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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATL2_chr2_38288954_38382273 | 38352133 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01256.hp2 HG01258.hp1 others(3): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0027a0002c0002t0001 | a0001c0003t0027g0044 a0002c0002t0001g0232 a0002c0002t0001g0233 others(3): Show |
6 | 65 | 0.0923 | -9 | c.119 others(26): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38357651 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG02132.hp2 NA18943.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0001t0004g0134 others(12): Show |
15 | 89 | 0.1685 | -9 | c.119 others(28): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATN1_chr12_6922959_6947321 | 6936728 | ACAGCAGC others(2): Show |
A | disruptive_inframe_deletion | MODERATE | HG01069.hp2 HG01167.hp1 HG01891.hp2 others(35): Show |
a0001a0004a0012others(1): Show | a0001c0001a0004c0009a0012c0027others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(20): Show |
38 | 159 | 0.2390 | -9 | c.150 others(18): Show |
p.Gln others(13): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 5/10 | 2088/4702 | 1500/3573 | 500/1190 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ATOSA_chr15_52576321_52684388 | 52598740 | ACATGGTT others(2): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG00673.hp1 others(61): Show |
a0001a0011a0013 | a0001c0001a0011c0014a0013c0022 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0116 others(59): Show |
64 | 360 | 0.1778 | -9 | c.264 others(28): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 9/12 | chr15 | TogoVar | |||||||
ATOSA_chr15_52576321_52684388 | 52658801 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02109.hp1 others(6): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0006c0006t0004a0006c0006t0010 | a0001c0001t0001g0192 a0006c0006t0004g0011 a0006c0006t0004g0186 others(5): Show |
9 | 82 | 0.1098 | -9 | c.16+ others(26): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar | |||||||
ATOSA_chr15_52576321_52684388 | 52679755 | TCTCCTCC others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(80): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0002c0007others(5): Show | a0001c0001t0005a0001c0001t0011a0002c0002t0001others(7): Show | a0001c0001t0005g0237 a0001c0001t0011g0341 a0002c0002t0001g0015 others(78): Show |
83 | 228 | 0.3640 | -9 | c.-10 others(20): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 368 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25750704 | TATGATGA others(2): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00558.hp2 others(122): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0019a0001c0047others(44): Show | a0001c0001t0001a0001c0001t0002a0001c0019t0003others(49): Show | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0038 others(122): Show |
125 | 128 | 0.9766 | -9 | c.655 others(28): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25847609 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp2 HG00735.hp2 others(31): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0009a0002c0002others(15): Show | a0001c0001t0001a0001c0009t0001a0002c0002t0001others(15): Show | a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0064 others(31): Show |
34 | 42 | 0.8095 | -9 | c.449 others(28): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112697727 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00558.hp2 others(52): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(36): Show | a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 others(52): Show |
55 | 69 | 0.7971 | -9 | c.39+ others(24): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112724120 | TTCTCCCC others(2): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG01123.hp2 HG01891.hp2 others(7): Show |
a0001a0002a0005others(2): Show | a0001c0004a0001c0017a0001c0044others(5): Show | a0001c0004t0006a0001c0017t0060a0001c0044t0047others(6): Show | a0001c0004t0006g0058 a0001c0004t0006g0061 a0001c0017t0060g0053 others(7): Show |
10 | 252 | 0.0397 | -9 | c.39+ others(26): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112803972 | TCCCTCAT others(2): Show |
T | intron_variant | MODIFIER | HG03540.hp1 HG03579.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0020a0001c0046 | a0001c0001t0001a0001c0020t0070a0001c0046t0016 | a0001c0001t0001g0210 a0001c0020t0070g0055 a0001c0046t0016g0062 |
3 | 240 | 0.0125 | -9 | c.163 others(24): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112804191 | GCCCTCCT others(2): Show |
G | intron_variant | MODIFIER | HG01517.hp1 HG02970.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0005a0001c0009 | a0001c0005t0020a0001c0005t0063a0001c0009t0004others(1): Show | a0001c0005t0020g0247 a0001c0005t0063g0130 a0001c0009t0004g0140 others(1): Show |
4 | 245 | 0.0163 | -9 | c.163 others(24): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112804296 | CCCTCCTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00597.hp2 others(55): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(20): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0021others(42): Show | a0001c0001t0001g0029 a0001c0001t0001g0065 a0001c0001t0001g0150 others(55): Show |
58 | 250 | 0.2320 | -9 | c.163 others(24): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112804409 | CCCTCCTT others(2): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp1 HG01071.hp1 others(29): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(16): Show | a0001c0001t0001g0086 a0001c0001t0001g0152 a0001c0001t0001g0156 others(29): Show |
32 | 252 | 0.1270 | -9 | c.163 others(24): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11B_chr3_182788504_182926629 | 182791352 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00609.hp1 others(97): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0004a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(94): Show |
100 | 137 | 0.7299 | -9 | c.-24 others(20): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 2151 | chr3 | TogoVar | |||||||
ATP11B_chr3_182788504_182926629 | 182844985 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG02886.hp2 HG03540.hp1 others(6): Show |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0004a0001c0002t0006a0001c0002t0022others(1): Show | a0001c0002t0004g0279 a0001c0002t0004g0292 a0001c0002t0006g0280 others(6): Show |
9 | 322 | 0.0280 | -9 | c.705 others(24): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP11B_chr3_182788504_182926629 | 182923825 | TACAAAAA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01255.hp2 HG02280.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0251 a0001c0001t0005g0252 a0001c0001t0005g0253 others(8): Show |
11 | 307 | 0.0358 | -9 | c.*57 others(20): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 2197 | chr3 | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139789970 | CAGTGAGC others(2): Show |
C | intron_variant | MODIFIER | NA18954.hp2 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 a0001c0001t0002g0180 |
2 | 232 | 0.0086 | -9 | c.120 others(26): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 12/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139803685 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01175.hp1 HG02109.hp2 HG02257.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0016others(2): Show | a0001c0001t0004g0062 a0001c0001t0004g0201 a0001c0001t0004g0210 others(4): Show |
7 | 40 | 0.1750 | -9 | c.555 others(24): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 6/29 | chrX | TogoVar | |||||||
ATP13A1_chr19_19640198_19668676 | 19664778 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01070.hp1 HG01099.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0154 others(1): Show |
6 | 271 | 0.0221 | -9 | c.-11 others(20): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 1103 | chr19 | TogoVar | |||||||
ATP13A1_chr19_19640198_19668676 | 19666607 | GTTTTTTT others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01123.hp1 HG01358.hp1 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(6): Show |
11 | 72 | 0.1528 | -9 | c.-29 others(20): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 2932 | chr19 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193478834 | AATGTCCC others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(131): Show |
a0001a0002a0003others(2): Show | a0001c0006a0001c0008a0001c0019others(7): Show | a0001c0006t0001a0001c0006t0003a0001c0006t0007others(31): Show | a0001c0006t0001g0112 a0001c0006t0001g0113 a0001c0006t0001g0200 others(131): Show |
134 | 300 | 0.4467 | -9 | c.808 others(26): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 8/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193347279 | ATTTAATT others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(269): Show |
a0001a0002a0003others(31): Show | a0001c0006a0001c0007a0001c0012others(40): Show | a0001c0006t0001a0001c0006t0002a0001c0007t0001others(50): Show | a0001c0006t0001g0005 a0001c0006t0001g0012 a0001c0006t0001g0013 others(251): Show |
272 | 282 | 0.9645 | -9 | c.742 others(26): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 7/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193353251 | GAAGCACA others(2): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG00738.hp1 others(14): Show |
a0001a0009a0018others(3): Show | a0001c0006a0009c0034a0018c0033others(3): Show | a0001c0006t0001a0009c0034t0001a0018c0033t0001others(3): Show | a0001c0006t0001g0012 a0001c0006t0001g0013 a0001c0006t0001g0079 others(12): Show |
17 | 282 | 0.0603 | -9 | c.606 others(24): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 6/29 | chr3 | TogoVar | |||||||
ATP1B1_chr1_169101690_169137719 | 169125328 | CTTACATC others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(176): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0249 a0001c0001t0002g0001 a0001c0001t0002g0005 others(146): Show |
179 | 410 | 0.4366 | -9 | c.382 others(24): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP1B1_chr1_169101690_169137719 | 169135014 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00741.hp1 HG01069.hp2 others(29): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0014a0001c0004t0004 | a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0020 others(25): Show |
32 | 111 | 0.2883 | -9 | c.*34 others(20): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 2296 | chr1 | TogoVar | |||||||
ATP1B3_chr3_141871643_141931549 | 141890285 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp2 HG01069.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0249 a0001c0001t0001g0260 a0001c0001t0001g0261 others(48): Show |
53 | 67 | 0.7910 | -9 | c.110 others(28): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141892651 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00642.hp2 HG00673.hp1 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0016others(2): Show | a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0334 others(49): Show |
54 | 164 | 0.3293 | -9 | c.110 others(28): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP2A2_chr12_110276247_110356093 | 110309140 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01943.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0218 a0001c0001t0007g0048 a0001c0001t0007g0049 others(3): Show |
6 | 50 | 0.1200 | -9 | c.463 others(28): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3965849 | TTTATTAT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01261.hp2 HG01361.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0164 a0001c0001t0002g0149 a0001c0001t0002g0162 |
3 | 211 | 0.0142 | -9 | c.-15 others(20): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1413 | chr17 | TogoVar | |||||||
ATP2B2_chr3_10319023_10510586 | 10443544 | CCCGAAGC others(2): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02647.hp2 HG02896.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0006a0001c0003t0006a0001c0004t0001others(8): Show | a0001c0001t0006g0136 a0001c0003t0006g0242 a0001c0004t0001g0004 others(8): Show |
11 | 288 | 0.0382 | -9 | c.199 others(26): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 2/22 | chr3 | TogoVar | |||||||
ATP2B2_chr3_10319023_10510586 | 10471376 | GTGTGTGT others(2): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG01891.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0002t0006a0001c0002t0030others(3): Show | a0001c0001t0003g0218 a0001c0002t0006g0211 a0001c0002t0030g0213 others(3): Show |
6 | 288 | 0.0208 | -9 | c.-31 others(30): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ATP2B4_chr1_203621832_203749081 | 203625326 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp2 HG02071.hp2 HG02083.hp2 others(7): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0040 others(7): Show |
10 | 108 | 0.0926 | -9 | c.-23 others(20): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1505 | chr1 | TogoVar | |||||||
ATP2B4_chr1_203621832_203749081 | 203674637 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(150): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0055 others(149): Show |
153 | 178 | 0.8596 | -9 | c.-46 others(28): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203687259 | AAAAAGAA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(270): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(64): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0015 others(269): Show |
273 | 316 | 0.8639 | -9 | c.193 others(26): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84447660 | TATATATT others(2): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02647.hp1 HG02723.hp1 others(3): Show |
a0001a0002a0009 | a0001c0001a0001c0005a0002c0074others(1): Show | a0001c0001t0001a0001c0005t0002a0002c0074t0002others(1): Show | a0001c0001t0001g0079 a0001c0005t0002g0076 a0001c0005t0002g0211 others(3): Show |
6 | 430 | 0.0140 | -9 | c.150 others(26): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP5F1A_chr18_46075248_46103296 | 46081664 | AAAAAAAA others(2): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00673.hp2 HG02004.hp1 HG02148.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0018a0001c0001t0121others(4): Show | a0001c0001t0008g0025 a0001c0001t0008g0051 a0001c0001t0008g0236 others(9): Show |
17 | 388 | 0.0438 | -9 | c.*26 others(20): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 12/12 | 2609 | chr18 | TogoVar | ||||||
ATP5F1A_chr18_46075248_46103296 | 46092180 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 HG01884.hp2 others(27): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0016others(9): Show | a0001c0001t0001g0021 a0001c0001t0001g0104 a0001c0001t0005g0013 others(18): Show |
30 | 78 | 0.3846 | -9 | c.140 others(24): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 2/11 | chr18 | TogoVar | |||||||
ATP5F1D_chr19_1236751_1249825 | 1246820 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02145.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0015 others(1): Show |
8 | 234 | 0.0342 | -9 | c.*23 others(20): Show |
ATP5F1D | ENSG00000099624.8 | transcript | ENST00000215375.7 | protein_coding | 1996 | chr19 | TogoVar | |||||||
ATP5MC1_chr17_48887787_48900871 | 48899067 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02818.hp2 HG02896.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0010 |
6 | 13 | 0.4615 | -9 | c.*32 others(20): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 3197 | chr17 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53678370 | CCACCATC others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(138): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(64): Show |
141 | 415 | 0.3398 | -9 | c.-23 others(20): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 2288 | chr12 | TogoVar | |||||||
ATP6V0A2_chr12_123707353_123766755 | 123708958 | ACACAGCT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG02559.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0192 a0001c0001t0019g0193 |
2 | 220 | 0.0091 | -9 | c.-36 others(20): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 3394 | chr12 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138730931 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 HG02818.hp1 others(8): Show |
a0001a0002 | a0001c0005a0001c0010a0001c0013others(3): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0002others(4): Show | a0001c0005t0001g0032 a0001c0005t0005g0067 a0001c0010t0002g0035 others(8): Show |
11 | 66 | 0.1667 | -9 | c.190 others(28): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 17/21 | chr7 | TogoVar | |||||||
ATP6V0B_chr1_43969960_43983295 | 43979336 | CGCGGCGG others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00642.hp1 others(41): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0004 a0001c0002t0002g0004 a0001c0002t0002g0017 |
44 | 382 | 0.1152 | -9 | c.*13 others(20): Show |
ATP6V0B | ENSG00000117410.14 | transcript | ENST00000472174.7 | protein_coding | 1042 | chr1 | TogoVar | |||||||
ATP6V0D2_chr8_86093910_86159225 | 86145370 | GAAGGAAA others(2): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02129.hp2 HG02723.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0023 a0001c0001t0001g0177 a0001c0001t0001g0315 others(6): Show |
9 | 180 | 0.0500 | -9 | c.639 others(26): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V0E1_chr5_172978771_173040445 | 173006403 | GATCGAGA others(2): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02280.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0022 others(6): Show |
10 | 292 | 0.0342 | -9 | c.152 others(28): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATP6V1A_chr3_113742035_113817056 | 113771429 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(113): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0036 a0001c0001t0001g0109 a0001c0001t0001g0110 others(101): Show |
116 | 216 | 0.5370 | -9 | c.-13 others(26): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70940907 | CTTTTTCT others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(142): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(18): Show | a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0054 others(116): Show |
145 | 308 | 0.4708 | -9 | c.119 others(26): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1C1_chr8_103016083_103078051 | 103043319 | CTTTGTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(82): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014a0001c0001t0026others(3): Show | a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0014 others(59): Show |
85 | 410 | 0.2073 | -9 | c.200 others(24): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V1C1_chr8_103016083_103078051 | 103047454 | ACACACAC others(2): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG02132.hp2 HG03209.hp1 others(11): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0007a0001c0001t0030a0003c0007t0007 | a0001c0001t0007g0006 a0001c0001t0007g0046 a0001c0001t0007g0256 others(7): Show |
14 | 410 | 0.0341 | -9 | c.201 others(26): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 3/12 | chr8 | TogoVar |