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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP5PO_chr21_33898453_33920804 | 33911662 | G | GTTT | intron_variant | MODIFIER | HG01167.hp2 HG01346.hp2 HG02055.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0002t0001g0036 others(1): Show |
6 | 101 | 0.0594 | 3 | c.198 others(18): Show |
ATP5PO | ENSG00000241837.7 | transcript | ENST00000290299.7 | protein_coding | 3/6 | chr21 | TogoVar | |||||||
ATP6AP1_chrX_154423677_154441516 | 154425927 | G | GTTT | upstream_gene_variant | MODIFIER | HG00438.hp2 HG01081.hp1 HG01258.hp1 others(22): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004a0001c0002t0005 | a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0002t0003g0015 others(5): Show |
25 | 134 | 0.1866 | 3 | c.-27 others(14): Show |
ATP6AP1 | ENSG00000071553.18 | transcript | ENST00000369762.7 | protein_coding | 2749 | chrX | TogoVar | |||||||
ATP6AP2_chrX_40575970_40611848 | 40576955 | G | GTTT | upstream_gene_variant | MODIFIER | HG01261.hp1 HG01928.hp1 HG02896.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0003 | a0001c0001t0001g0001 a0001c0001t0001g0111 a0001c0002t0002g0041 others(3): Show |
7 | 39 | 0.1795 | 3 | c.-41 others(14): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 4014 | chrX | TogoVar | |||||||
ATP6AP2_chrX_40575970_40611848 | 40596868 | C | CCTT | intron_variant | MODIFIER | HG01081.hp2 HG01891.hp2 HG02055.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0003a0001c0003t0003a0001c0006t0003 | a0001c0001t0003g0020 a0001c0003t0003g0028 a0001c0003t0003g0029 others(5): Show |
11 | 297 | 0.0370 | 3 | c.301 others(18): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP6AP2_chrX_40575970_40611848 | 40600313 | T | TTTC | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00639.hp1 others(69): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0003a0001c0002t0002a0001c0002t0003others(6): Show | a0001c0001t0003g0020 a0001c0002t0002g0005 a0001c0002t0002g0006 others(48): Show |
72 | 297 | 0.2424 | 3 | c.739 others(18): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP6V0A1_chr17_42453878_42527579 | 42462998 | C | CTTT | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00733.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(32): Show |
45 | 138 | 0.3261 | 3 | c.117 others(20): Show |
ATP6V0A1 | ENSG00000033627.18 | transcript | ENST00000343619.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ATP6V0A2_chr12_123707353_123766755 | 123728395 | C | CTTT | intron_variant | MODIFIER | HG01109.hp2 HG01256.hp2 HG02055.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0005a0001c0001t0029a0001c0001t0034others(1): Show | a0001c0001t0005g0038 a0001c0001t0005g0039 a0001c0001t0005g0041 others(9): Show |
12 | 70 | 0.1714 | 3 | c.648 others(18): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATP6V0A2_chr12_123707353_123766755 | 123732632 | A | ATTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(101): Show |
a0001a0006a0007others(2): Show | a0001c0001a0001c0011a0006c0010others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(86): Show |
104 | 184 | 0.5652 | 3 | c.649 others(20): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATP6V0A2_chr12_123707353_123766755 | 123746639 | T | TAAA | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG01256.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0003t0004 | a0001c0001t0005g0038 a0001c0001t0005g0041 a0001c0001t0005g0042 others(6): Show |
9 | 162 | 0.0556 | 3 | c.160 others(20): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATP6V0A2_chr12_123707353_123766755 | 123763563 | C | CTTT | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02559.hp2 HG02895.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0019a0001c0001t0029 | a0001c0001t0005g0038 a0001c0001t0005g0041 a0001c0001t0005g0042 others(4): Show |
7 | 140 | 0.0500 | 3 | c.*55 others(14): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 1809 | chr12 | TogoVar | |||||||
ATP6V0A2_chr12_123707353_123766755 | 123765561 | A | ATCT | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG02027.hp1 others(12): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0001g0099 a0001c0001t0004g0140 a0001c0001t0005g0123 others(12): Show |
15 | 183 | 0.0820 | 3 | c.*75 others(14): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 3807 | chr12 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138704602 | C | CAAA | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00597.hp2 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0007others(9): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(15): Show | a0001c0001t0002g0030 a0001c0001t0002g0151 a0001c0001t0002g0187 others(25): Show |
28 | 37 | 0.7568 | 3 | c.*20 others(14): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 1691 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138710192 | A | ATTT | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG01081.hp1 others(30): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0005a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(10): Show | a0001c0001t0001g0041 a0001c0001t0001g0056 a0001c0001t0001g0058 others(30): Show |
33 | 228 | 0.1447 | 3 | c.225 others(20): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 20/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138713280 | G | GAAA | intron_variant | MODIFIER | HG00323.hp1 HG01261.hp1 HG02738.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0002g0182 others(3): Show |
6 | 54 | 0.1111 | 3 | c.225 others(22): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 20/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138714238 | G | GAAA | intron_variant | MODIFIER | HG00597.hp2 HG01243.hp2 HG02080.hp2 others(6): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(6): Show | a0001c0001t0001g0087 a0001c0001t0004g0352 a0001c0001t0007g0375 others(6): Show |
9 | 78 | 0.1154 | 3 | c.225 others(22): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 20/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138717909 | G | GAAA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(62): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0001c0014others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(19): Show | a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0029 others(62): Show |
65 | 236 | 0.2754 | 3 | c.214 others(22): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 19/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138722744 | C | CAAA | intron_variant | MODIFIER | HG01192.hp2 HG01891.hp1 HG02056.hp2 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0010others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(8): Show | a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0153 others(22): Show |
25 | 146 | 0.1712 | 3 | c.201 others(20): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 18/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138723055 | C | CAAA | intron_variant | MODIFIER | HG00438.hp1 HG03239.hp1 HG03486.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0012 | a0001c0001t0001a0002c0002t0001a0002c0012t0001others(1): Show | a0001c0001t0001g0122 a0001c0001t0001g0253 a0001c0001t0001g0302 others(7): Show |
10 | 93 | 0.1075 | 3 | c.201 others(22): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 18/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138723055 | C | CCAA | intron_variant | MODIFIER | HG02027.hp2 HG02055.hp2 HG02080.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 a0001c0001t0001g0261 a0001c0001t0001g0349 |
3 | 86 | 0.0349 | 3 | c.201 others(22): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 18/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138723523 | C | CTTT | intron_variant | MODIFIER | HG00438.hp2 HG01257.hp2 HG01516.hp1 others(33): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0001c0035others(9): Show | a0001c0001t0001a0001c0007t0001a0001c0035t0001others(10): Show | a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0090 others(33): Show |
36 | 139 | 0.2590 | 3 | c.201 others(22): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 18/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138724189 | C | CAAA | intron_variant | MODIFIER | HG00597.hp2 HG00733.hp1 HG00733.hp2 others(61): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0007others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0056 others(61): Show |
64 | 226 | 0.2832 | 3 | c.201 others(22): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 18/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138742900 | C | CAAA | intron_variant | MODIFIER | HG00280.hp1 HG01167.hp2 HG01169.hp1 others(45): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0007others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(22): Show | a0001c0001t0001g0077 a0001c0001t0001g0368 a0001c0001t0002g0030 others(45): Show |
48 | 73 | 0.6575 | 3 | c.147 others(22): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 14/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138745960 | A | ATAT | intron_variant | MODIFIER | HG00323.hp2 HG01167.hp2 HG01169.hp1 others(10): Show |
a0001a0005a0007others(1): Show | a0001c0001a0001c0005a0001c0008others(4): Show | a0001c0001t0001a0001c0005t0004a0001c0008t0002others(5): Show | a0001c0001t0001g0124 a0001c0001t0001g0337 a0001c0005t0004g0177 others(10): Show |
13 | 159 | 0.0818 | 3 | c.132 others(20): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 13/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138745962 | A | ATAT | intron_variant | MODIFIER | HG02027.hp1 HG02080.hp2 HG02132.hp1 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0001c0035others(3): Show | a0001c0001t0001a0001c0005t0002a0001c0035t0001others(3): Show | a0001c0001t0001g0155 a0001c0005t0002g0043 a0001c0035t0001g0025 others(6): Show |
9 | 98 | 0.0918 | 3 | c.132 others(20): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 13/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138759052 | A | ATTT | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00639.hp1 others(37): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0058 a0001c0001t0001g0153 a0001c0001t0001g0154 others(37): Show |
40 | 122 | 0.3279 | 3 | c.639 others(18): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 8/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138760444 | C | CAAA | intron_variant | MODIFIER | HG01243.hp2 HG02738.hp2 HG03927.hp2 others(4): Show |
a0001a0003a0005 | a0001c0001a0003c0004a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0058 a0001c0001t0001g0221 a0001c0001t0002g0202 others(4): Show |
7 | 273 | 0.0256 | 3 | c.513 others(18): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 7/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138760460 | A | AAAG | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00642.hp1 others(67): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0007others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(32): Show | a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0034 others(67): Show |
70 | 367 | 0.1907 | 3 | c.513 others(18): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 7/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138763966 | C | CAAA | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG02717.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0023a0001c0035others(1): Show | a0001c0001t0001a0001c0023t0001a0001c0035t0001others(1): Show | a0001c0001t0001g0180 a0001c0001t0001g0265 a0001c0001t0001g0266 others(4): Show |
7 | 359 | 0.0195 | 3 | c.292 others(18): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 5/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138763975 | A | AAAT | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00597.hp1 others(41): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0007others(8): Show | a0001c0001t0001a0001c0005t0001a0001c0007t0001others(10): Show | a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0047 others(41): Show |
44 | 362 | 0.1215 | 3 | c.292 others(18): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 5/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138784323 | T | TGTA | intron_variant | MODIFIER | HG01891.hp2 HG02622.hp1 HG02922.hp1 others(2): Show |
a0001a0002a0007 | a0001c0001a0001c0020a0002c0002others(1): Show | a0001c0001t0007a0001c0020t0001a0001c0020t0007others(2): Show | a0001c0001t0007g0374 a0001c0020t0001g0036 a0001c0020t0007g0373 others(2): Show |
5 | 374 | 0.0134 | 3 | c.-18 others(20): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138802556 | G | GAAA | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02486.hp2 others(22): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0008others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0033 others(22): Show |
25 | 351 | 0.0712 | 3 | c.-46 others(14): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 4361 | chr7 | TogoVar | |||||||
ATP6V0B_chr1_43969960_43983295 | 43978202 | T | TGAC | 3_prime_UTR_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00642.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0002t0002g0004 others(1): Show |
44 | 394 | 0.1117 | 3 | c.*19 others(12): Show |
ATP6V0B | ENSG00000117410.14 | transcript | ENST00000472174.7 | protein_coding | 8/8 | 199 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP6V0B_chr1_43969960_43983295 | 43979336 | C | CGCG | downstream_gene_variant | MODIFIER | HG01099.hp2 HG01106.hp2 HG01517.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0023 others(2): Show |
12 | 350 | 0.0343 | 3 | c.*13 others(14): Show |
ATP6V0B | ENSG00000117410.14 | transcript | ENST00000472174.7 | protein_coding | 1042 | chr1 | TogoVar | |||||||
ATP6V0C_chr16_2508952_2525218 | 2517713 | T | TGTG | intron_variant | MODIFIER | HG02071.hp1 HG02155.hp2 NA19004.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0039 |
4 | 72 | 0.0556 | 3 | c.80- others(18): Show |
ATP6V0C | ENSG00000185883.12 | transcript | ENST00000330398.9 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
ATP6V0D1_chr16_67433019_67486157 | 67479213 | A | ATTT | intron_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01071.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0045 a0001c0001t0003g0003 a0001c0001t0003g0023 others(23): Show |
28 | 135 | 0.2074 | 3 | c.130 others(20): Show |
ATP6V0D1 | ENSG00000159720.13 | transcript | ENST00000290949.8 | protein_coding | 1/7 | chr16 | TogoVar | |||||||
ATP6V0D2_chr8_86093910_86159225 | 86096193 | C | CTTT | upstream_gene_variant | MODIFIER | HG01943.hp2 HG02145.hp2 HG02572.hp1 others(6): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0007 a0001c0001t0001g0076 a0001c0001t0001g0137 others(5): Show |
9 | 145 | 0.0621 | 3 | c.-27 others(14): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2716 | chr8 | TogoVar | |||||||
ATP6V0D2_chr8_86093910_86159225 | 86105616 | C | CTTT | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp2 others(105): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0017 others(100): Show |
108 | 326 | 0.3313 | 3 | c.130 others(20): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86115358 | A | ATTT | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00639.hp2 others(16): Show |
a0001a0005a0006 | a0001c0001a0005c0005a0006c0007 | a0001c0001t0001a0001c0001t0002a0005c0005t0001others(1): Show | a0001c0001t0001g0016 a0001c0001t0001g0143 a0001c0001t0001g0186 others(15): Show |
19 | 72 | 0.2639 | 3 | c.302 others(20): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86121604 | G | GGAT | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp2 others(132): Show |
a0001a0002a0007 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(125): Show |
135 | 199 | 0.6784 | 3 | c.302 others(20): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86129982 | G | GAAA | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG00639.hp2 others(32): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0001 | a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0163 others(30): Show |
35 | 255 | 0.1373 | 3 | c.303 others(20): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86145000 | C | CAAA | intron_variant | MODIFIER | HG00621.hp1 NA18950.hp2 NA18994.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0025 a0001c0001t0001g0043 a0001c0001t0001g0096 others(3): Show |
6 | 61 | 0.0984 | 3 | c.639 others(20): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86145368 | A | AAAG | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG01074.hp1 others(51): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0013 others(49): Show |
54 | 283 | 0.1908 | 3 | c.639 others(20): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | chr8 | TogoVar | |||||||
ATP6V0D2_chr8_86093910_86159225 | 86149052 | G | GAAA | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG00639.hp2 others(52): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 others(47): Show |
55 | 110 | 0.5000 | 3 | c.640 others(20): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V0E1_chr5_172978771_173040445 | 172993679 | A | ACCC | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp2 HG01993.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 others(12): Show |
15 | 131 | 0.1145 | 3 | c.105 others(20): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATP6V0E1_chr5_172978771_173040445 | 173017856 | A | AAAG | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG02486.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0178 a0001c0001t0001g0195 a0001c0001t0001g0202 others(9): Show |
12 | 280 | 0.0429 | 3 | c.153 others(20): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATP6V1A_chr3_113742035_113817056 | 113747010 | G | GCCC | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018a0001c0001t0022 | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0017 others(26): Show |
31 | 48 | 0.6458 | 3 | c.-11 others(12): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 24 | chr3 | TogoVar | |||||||
ATP6V1A_chr3_113742035_113817056 | 113759287 | G | GTTT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG01175.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0116 a0001c0001t0002g0008 a0001c0001t0002g0009 others(17): Show |
22 | 196 | 0.1122 | 3 | c.-14 others(22): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP6V1A_chr3_113742035_113817056 | 113761083 | A | ACAT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(128): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0036 a0001c0001t0001g0109 a0001c0001t0001g0110 others(115): Show |
131 | 310 | 0.4226 | 3 | c.-14 others(22): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP6V1A_chr3_113742035_113817056 | 113772933 | C | CTTT | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(91): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0036 a0001c0001t0001g0109 a0001c0001t0001g0116 others(79): Show |
94 | 240 | 0.3917 | 3 | c.-13 others(20): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70934062 | C | CAAA | upstream_gene_variant | MODIFIER | HG00597.hp2 HG01346.hp2 HG02004.hp2 others(7): Show |
a0001a0002 | a0001c0002a0001c0007a0001c0017others(3): Show | a0001c0002t0001a0001c0007t0001a0001c0017t0009others(3): Show | a0001c0002t0001g0003 a0001c0002t0001g0120 a0001c0007t0001g0149 others(7): Show |
10 | 375 | 0.0267 | 3 | c.-18 others(14): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1837 | chr2 | TogoVar |