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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATOSA_chr15_52576321_52684388 | 52672172 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03098.hp2 |
a0006 | a0006c0006 | a0006c0006t0004 | a0006c0006t0004g0189 a0006c0006t0004g0190 |
2 | 138 | 0.0145 | 19 | c.16+ others(34): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar | |||||||
ATOSB_chr9_35099117_35120862 | 35115891 | C | CGTTGTTG others(12): Show |
upstream_gene_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0155 | 1 | 430 | 0.0023 | 19 | c.-30 others(28): Show |
ATOSB | ENSG00000005238.20 | transcript | ENST00000322813.10 | protein_coding | 30 | chr9 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160653564 | A | ACATATAC others(12): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0017 | a0017c0022 | a0017c0022t0046 | a0017c0022t0046g0056 | 1 | 234 | 0.0043 | 19 | c.676 others(36): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160669918 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG02451.hp2 others(6): Show |
a0001a0006a0007others(1): Show | a0001c0005a0001c0008a0001c0011others(3): Show | a0001c0005t0012a0001c0008t0045a0001c0011t0041others(4): Show | a0001c0005t0012g0002 a0001c0005t0012g0004 a0001c0008t0045g0026 others(6): Show |
9 | 50 | 0.1800 | 19 | c.675 others(34): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160704914 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0165 | 1 | 33 | 0.0303 | 19 | c.-20 others(40): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 3/25 | chr5 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112778628 | T | TGAGTAGC others(12): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(125): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0004others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(76): Show | a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0024 others(125): Show |
128 | 252 | 0.5079 | 19 | c.40- others(34): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112778682 | T | TGAGTAGC others(12): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02109.hp1 HG02717.hp2 others(3): Show |
a0001a0004a0012 | a0001c0001a0001c0009a0004c0027others(1): Show | a0001c0001t0001a0001c0009t0003a0001c0009t0075others(2): Show | a0001c0001t0001g0152 a0001c0001t0001g0219 a0001c0009t0003g0218 others(3): Show |
6 | 250 | 0.0240 | 19 | c.40- others(34): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112779016 | T | TGAGTAGC others(12): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0182 | 1 | 252 | 0.0040 | 19 | c.40- others(34): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112779239 | T | TGGAGTAG others(12): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01261.hp1 HG03017.hp1 others(6): Show |
a0001a0002a0003others(4): Show | a0001c0002a0002c0003a0002c0048others(5): Show | a0001c0002t0001a0002c0003t0002a0002c0048t0008others(5): Show | a0001c0002t0001g0167 a0002c0003t0002g0027 a0002c0048t0008g0165 others(6): Show |
9 | 251 | 0.0359 | 19 | c.40- others(34): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112779348 | T | TGAGTAGC others(12): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(76): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(48): Show | a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0024 others(76): Show |
79 | 237 | 0.3333 | 19 | c.40- others(34): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112779356 | C | CGCTGGAG others(12): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03098.hp2 |
a0001 | a0001c0019a0001c0042 | a0001c0019t0015a0001c0042t0046 | a0001c0019t0015g0147 a0001c0042t0046g0148 |
2 | 252 | 0.0079 | 19 | c.40- others(34): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112861992 | T | TCAGGCGT others(12): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00544.hp2 others(115): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(49): Show | a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 others(115): Show |
118 | 251 | 0.4701 | 19 | c.285 others(36): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112862049 | G | GCAGGCGT others(12): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0167 | 1 | 247 | 0.0040 | 19 | c.285 others(36): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139866343 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0182 | 1 | 89 | 0.0112 | 19 | c.28- others(36): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194409693 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02486.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 a0001c0001t0001g0182 a0001c0001t0001g0250 |
3 | 121 | 0.0248 | 19 | c.357 others(38): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 33/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194421944 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02896.hp2 HG03195.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0011 a0001c0001t0008g0012 a0001c0001t0008g0013 others(3): Show |
6 | 140 | 0.0429 | 19 | c.331 others(38): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 30/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194468386 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0184 a0001c0001t0007g0186 a0001c0001t0007g0187 others(1): Show |
4 | 210 | 0.0190 | 19 | c.-46 others(36): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 2/33 | chr3 | TogoVar | |||||||
ATP1B1_chr1_169101690_169137719 | 169135014 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0314 | 1 | 80 | 0.0125 | 19 | c.*34 others(30): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 2296 | chr1 | TogoVar | |||||||
ATP2A2_chr12_110276247_110356093 | 110293871 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0220 | 1 | 216 | 0.0046 | 19 | c.324 others(36): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
ATP2A2_chr12_110276247_110356093 | 110309140 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01934.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0190 a0001c0001t0003g0202 |
2 | 46 | 0.0435 | 19 | c.463 others(38): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3924658 | G | GGGGAACC others(12): Show |
3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00597.hp1 others(25): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0012others(10): Show | a0001c0001t0005g0206 a0001c0001t0005g0224 a0001c0001t0005g0226 others(25): Show |
28 | 329 | 0.0851 | 19 | c.*74 others(28): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 21/21 | 763 | chr17 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89583790 | C | CGGGGGGG others(12): Show |
downstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 95 | 0.0105 | 19 | c.*71 others(30): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 4258 | chr12 | TogoVar | |||||||
ATP2B4_chr1_203621832_203749081 | 203686685 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0090 | 1 | 33 | 0.0303 | 19 | c.193 others(36): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203719225 | G | GAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0052 | 1 | 277 | 0.0036 | 19 | c.240 others(38): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84397655 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01106.hp2 HG01346.hp2 others(27): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(17): Show | a0001c0001t0001g0334 a0001c0001t0002g0316 a0001c0001t0002g0364 others(27): Show |
30 | 49 | 0.6122 | 19 | c.100 others(34): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84397671 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0337 | 1 | 430 | 0.0023 | 19 | c.100 others(34): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84424599 | T | TTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00609.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0002t0003others(1): Show | a0001c0001t0002g0373 a0001c0001t0003g0192 a0001c0001t0003g0324 others(6): Show |
9 | 372 | 0.0242 | 19 | c.920 others(36): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 10/26 | chr16 | TogoVar | |||||||
ATP4A_chr19_35545031_35568658 | 35552141 | G | GGTTCAGG others(12): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0009 | a0009c0023 | a0009c0023t0001 | a0009c0023t0001g0143 | 1 | 424 | 0.0024 | 19 | c.275 others(36): Show |
ATP4A | ENSG00000105675.9 | transcript | ENST00000262623.4 | protein_coding | 18/21 | chr19 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53667995 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 408 | 0.0025 | 19 | c.311 others(36): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53672083 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01192.hp2 NA19072.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0075 |
3 | 70 | 0.0429 | 19 | c.39+ others(32): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53679264 | A | AGAGAGAG others(12): Show |
upstream_gene_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 416 | 0.0024 | 19 | c.-32 others(30): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 3182 | chr12 | TogoVar | |||||||
ATP5ME_chr4_667436_679276 | 668430 | G | GCTACCCC others(12): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 HG02922.hp1 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 388 | 0.0103 | 19 | c.*40 others(30): Show |
ATP5ME | ENSG00000169020.10 | transcript | ENST00000304312.5 | protein_coding | 4005 | chr4 | TogoVar | |||||||
ATP5ME_chr4_667436_679276 | 668580 | A | ACTACCCC others(12): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 389 | 0.0026 | 19 | c.*39 others(30): Show |
ATP5ME | ENSG00000169020.10 | transcript | ENST00000304312.5 | protein_coding | 3855 | chr4 | TogoVar | |||||||
ATP5ME_chr4_667436_679276 | 669472 | A | ACTACGCC others(12): Show |
downstream_gene_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 383 | 0.0026 | 19 | c.*30 others(30): Show |
ATP5ME | ENSG00000169020.10 | transcript | ENST00000304312.5 | protein_coding | 2963 | chr4 | TogoVar | |||||||
ATP5ME_chr4_667436_679276 | 669534 | C | CCCATGCT others(12): Show |
downstream_gene_variant | MODIFIER | HG02165.hp2 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 384 | 0.0052 | 19 | c.*29 others(30): Show |
ATP5ME | ENSG00000169020.10 | transcript | ENST00000304312.5 | protein_coding | 2901 | chr4 | TogoVar | |||||||
ATP5ME_chr4_667436_679276 | 669553 | G | GCCATGCT others(12): Show |
downstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 378 | 0.0026 | 19 | c.*29 others(30): Show |
ATP5ME | ENSG00000169020.10 | transcript | ENST00000304312.5 | protein_coding | 2882 | chr4 | TogoVar | |||||||
ATP5MGL_chr22_42634803_42645601 | 42638728 | T | TAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01258.hp2 HG02040.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 19 | 79 | 0.2405 | 19 | c.*12 others(30): Show |
ATP5MGL | ENSG00000249222.1 | transcript | ENST00000505920.1 | protein_coding | 1074 | chr22 | TogoVar | |||||||
ATP5MJ_chr14_103907288_103926529 | 103914837 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0047 | 1 | 342 | 0.0029 | 19 | c.124 others(34): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 2/3 | chr14 | TogoVar | |||||||
ATP5MJ_chr14_103907288_103926529 | 103914837 | C | CAAAAAGG others(12): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 | 1 | 342 | 0.0029 | 19 | c.124 others(34): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 2/3 | chr14 | TogoVar | |||||||
ATP5MJ_chr14_103907288_103926529 | 103925043 | C | CTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 NA18965.hp2 NA19011.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0178 a0002c0002t0001g0175 a0002c0002t0001g0176 |
3 | 328 | 0.0091 | 19 | c.-35 others(30): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 3515 | chr14 | TogoVar | |||||||
ATP6V0A2_chr12_123707353_123766755 | 123729322 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03942.hp2 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0005g0125 |
3 | 59 | 0.0508 | 19 | c.648 others(36): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138737113 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG02055.hp2 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 a0001c0001t0001g0349 |
2 | 165 | 0.0121 | 19 | c.157 others(38): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 15/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138745658 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02717.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0005a0001c0013a0001c0035 | a0001c0005t0002a0001c0005t0004a0001c0013t0001others(1): Show | a0001c0005t0002g0043 a0001c0005t0002g0359 a0001c0005t0004g0177 others(2): Show |
5 | 119 | 0.0420 | 19 | c.132 others(36): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 13/21 | chr7 | TogoVar | |||||||
ATP6V1B1_chr2_70930900_70970431 | 70965548 | T | TAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 127 | 0.0079 | 19 | c.*42 others(28): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 118 | chr2 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17614351 | A | AAAAAATA others(12): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(121): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0139 others(114): Show |
124 | 368 | 0.3370 | 19 | c.100 others(36): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2/8 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17631706 | A | ATATATAT others(12): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0060 a0001c0001t0005g0187 |
2 | 186 | 0.0108 | 19 | c.-30 others(30): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2958 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17631706 | A | ATATATAT others(12): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 185 | 0.0054 | 19 | c.-30 others(30): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2958 | chr22 | TogoVar | |||||||
ATP7B_chr13_51927669_52016450 | 51953851 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01106.hp2 HG01884.hp1 others(10): Show |
a0002a0003 | a0002c0002a0002c0011a0003c0003others(1): Show | a0002c0002t0007a0002c0011t0018a0003c0003t0005others(4): Show | a0002c0002t0007g0039 a0002c0002t0007g0095 a0002c0002t0007g0096 others(9): Show |
13 | 148 | 0.0878 | 19 | c.244 others(38): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 9/20 | chr13 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42446080 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0256 | 1 | 15 | 0.0667 | 19 | c.295 others(36): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 31/36 | chr4 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57680277 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02735.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0011 | a0001c0001t0001g0006 a0001c0001t0005g0085 a0001c0001t0011g0181 |
3 | 16 | 0.1875 | 19 | c.163 others(38): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 15/27 | chr18 | TogoVar |