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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATG2B_chr14_96274195_96368341 | 96308270 | A | ACATATAT others(19): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0137 | 1 | 293 | 0.0034 | 26 | c.430 others(45): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 29/41 | chr14 | TogoVar | |||||||
ATG4B_chr2_241632693_241678857 | 241642871 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0154 | 1 | 63 | 0.0159 | 26 | c.10+ others(41): Show |
ATG4B | ENSG00000168397.17 | transcript | ENST00000404914.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATG4D_chr19_10538904_10558418 | 10555236 | C | CCCGCCCT others(19): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(312): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(170): Show |
315 | 404 | 0.7797 | 26 | c.*21 others(37): Show |
ATG4D | ENSG00000130734.10 | transcript | ENST00000309469.9 | protein_coding | 1819 | chr19 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11497357 | C | CTATATAT others(19): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 40 | 0.0250 | 26 | c.208 others(47): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38325713 | C | CACACACA others(19): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0205 | 1 | 234 | 0.0043 | 26 | c.364 others(43): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38329423 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG03492.hp2 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 a0001c0001t0002g0106 |
2 | 75 | 0.0267 | 26 | c.364 others(45): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38334902 | T | TTTATAAT others(19): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01256.hp1 HG01496.hp2 others(33): Show |
a0001a0003a0006 | a0001c0001a0001c0003a0003c0004others(1): Show | a0001c0001t0004a0001c0001t0013a0001c0003t0001others(14): Show | a0001c0001t0004g0132 a0001c0001t0013g0099 a0001c0003t0001g0150 others(33): Show |
36 | 127 | 0.2835 | 26 | c.363 others(43): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38337486 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02055.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 a0001c0001t0002g0087 |
2 | 29 | 0.0690 | 26 | c.363 others(43): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38365134 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0131 | 1 | 186 | 0.0054 | 26 | c.118 others(45): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATM_chr11_108218067_108374102 | 108317652 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0005 | a0005c0006 | a0005c0006t0005 | a0005c0006t0005g0166 | 1 | 140 | 0.0071 | 26 | c.634 others(43): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 43/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160652889 | T | TTATATAA others(19): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01167.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0051 others(42): Show |
45 | 132 | 0.3409 | 26 | c.676 others(43): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160822989 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0227 | 1 | 131 | 0.0076 | 26 | c.-57 others(47): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112719313 | C | CTCAATGC others(19): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0003 | a0002c0003t0035 | a0002c0003t0035g0031 | 1 | 252 | 0.0040 | 26 | c.39+ others(43): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112811161 | A | AACACACA others(19): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0016 | a0001c0016t0004 | a0001c0016t0004g0215 | 1 | 47 | 0.0213 | 26 | c.441 others(41): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139769281 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 32 | 0.0313 | 26 | c.221 others(43): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 19/29 | chrX | TogoVar | |||||||
ATP12A_chr13_24675408_24717472 | 24682392 | G | GGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01243.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0014a0001c0003t0001others(3): Show | a0001c0001t0004g0282 a0001c0001t0004g0285 a0001c0001t0014g0284 others(8): Show |
12 | 336 | 0.0357 | 26 | c.168 others(41): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194491677 | T | TCCATCTC others(19): Show |
upstream_gene_variant | MODIFIER | NA18973.hp1 NA18978.hp2 NA18979.hp2 others(10): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0001t0019a0001c0001t0035others(1): Show | a0001c0001t0006g0267 a0001c0001t0006g0269 a0001c0001t0006g0270 others(10): Show |
13 | 302 | 0.0430 | 26 | c.-52 others(37): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 4676 | chr3 | TogoVar | |||||||
ATP1B3_chr3_141871643_141931549 | 141874438 | A | AAAAAAAA others(19): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0098 a0001c0001t0006g0097 |
2 | 107 | 0.0187 | 26 | c.-23 others(37): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2204 | chr3 | TogoVar | |||||||
ATP1B3_chr3_141871643_141931549 | 141874438 | A | AAAAAAAA others(19): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0095 | 1 | 106 | 0.0094 | 26 | c.-23 others(37): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2204 | chr3 | TogoVar | |||||||
ATP1B4_chrX_120357089_120388237 | 120374613 | A | ACCCTTAT others(19): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 332 | 0.0030 | 26 | c.563 others(41): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/7 | chrX | TogoVar | |||||||
ATP1B4_chrX_120357089_120388237 | 120374621 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 349 | 0.0029 | 26 | c.563 others(41): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3958775 | C | CACATATA others(19): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00735.hp2 others(29): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0024a0001c0002t0001others(13): Show | a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 others(28): Show |
32 | 330 | 0.0970 | 26 | c.119 others(43): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1/20 | chr17 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89658598 | G | GGAGAGAG others(19): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285 | 1 | 46 | 0.0217 | 26 | c.-22 others(45): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89677954 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01256.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0039 a0001c0002t0001g0041 a0001c0002t0001g0044 others(4): Show |
7 | 171 | 0.0409 | 26 | c.-22 others(47): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89677971 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0043 | 1 | 209 | 0.0048 | 26 | c.-22 others(47): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
ATP2B4_chr1_203621832_203749081 | 203686685 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0217 | 1 | 33 | 0.0303 | 26 | c.193 others(43): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203723457 | T | TCTCTCTC others(19): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0038 | 1 | 224 | 0.0045 | 26 | c.302 others(43): 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(19): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 NA19240.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0023a0001c0006t0039 | a0001c0001t0023g0069 a0001c0001t0023g0070 a0001c0006t0039g0018 |
3 | 211 | 0.0142 | 26 | c.*49 others(37): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 747 | chr1 | TogoVar | |||||||
ATP2C2_chr16_84363538_84469187 | 84383735 | C | CTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG00738.hp2 others(16): Show |
a0001a0002a0010others(3): Show | a0001c0002a0001c0003a0002c0006others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(8): Show | a0001c0002t0001g0123 a0001c0002t0002g0037 a0001c0002t0002g0134 others(16): Show |
19 | 394 | 0.0482 | 26 | c.100 others(45): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84397655 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02004.hp2 NA18747.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0011others(1): Show | a0001c0001t0003a0001c0003t0001a0001c0011t0002others(1): Show | a0001c0001t0003g0190 a0001c0003t0001g0120 a0001c0011t0002g0340 others(1): Show |
4 | 23 | 0.1739 | 26 | c.100 others(41): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP5MC1_chr17_48887787_48900871 | 48899067 | C | CAAAAAAA others(19): Show |
downstream_gene_variant | MODIFIER | HG02132.hp1 NA18975.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 2 | 9 | 0.2222 | 26 | c.*32 others(37): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 3197 | chr17 | TogoVar | |||||||
ATP5MC1_chr17_48887787_48900871 | 48899950 | T | TGAGGCAG others(19): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00735.hp1 others(77): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0010 |
80 | 332 | 0.2410 | 26 | c.*41 others(37): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 4080 | chr17 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53667956 | C | CACATATA others(19): Show |
intron_variant | MODIFIER | NA19060.hp2 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 2 | 200 | 0.0100 | 26 | c.311 others(43): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53672083 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02895.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 2 | 69 | 0.0290 | 26 | c.39+ others(39): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53672101 | A | ATAAAATA others(19): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03195.hp1 NA18522.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0038 a0001c0002t0001g0085 |
3 | 416 | 0.0072 | 26 | c.39+ others(39): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
ATP5ME_chr4_667436_679276 | 670206 | A | AGAAAATG others(19): Show |
downstream_gene_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 392 | 0.0026 | 26 | c.*22 others(37): Show |
ATP5ME | ENSG00000169020.10 | transcript | ENST00000304312.5 | protein_coding | 2229 | chr4 | TogoVar | |||||||
ATP5MGL_chr22_42634803_42645601 | 42638728 | T | TAAAAAAA others(19): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 HG01358.hp1 HG02809.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 6 | 66 | 0.0909 | 26 | c.*12 others(37): Show |
ATP5MGL | ENSG00000249222.1 | transcript | ENST00000505920.1 | protein_coding | 1074 | chr22 | TogoVar | |||||||
ATP5MJ_chr14_103907288_103926529 | 103914837 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0051 | 1 | 342 | 0.0029 | 26 | c.124 others(41): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 2/3 | chr14 | TogoVar | |||||||
ATP5PB_chr1_111444464_111467773 | 111454463 | T | TTTTTTGT others(19): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03098.hp1 NA18906.hp1 |
a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0028 | 3 | 422 | 0.0071 | 26 | c.223 others(41): Show |
ATP5PB | ENSG00000116459.11 | transcript | ENST00000369722.8 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP6V0A2_chr12_123707353_123766755 | 123712055 | T | TCACACAC others(19): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 HG02055.hp1 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0002a0002c0004t0007 | a0001c0002t0002g0014 a0002c0004t0007g0181 |
2 | 173 | 0.0116 | 26 | c.-51 others(35): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 297 | chr12 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138707350 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(18): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(9): Show | a0001c0001t0001g0178 a0001c0001t0001g0266 a0001c0001t0001g0297 others(18): Show |
21 | 269 | 0.0781 | 26 | c.243 others(43): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 21/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138745658 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(81): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0007others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0024 a0001c0001t0001g0037 a0001c0001t0001g0059 others(81): Show |
84 | 198 | 0.4242 | 26 | c.132 others(43): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 13/21 | chr7 | TogoVar | |||||||
ATP6V0D2_chr8_86093910_86159225 | 86126236 | C | CTATATAT others(19): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02074.hp2 HG02165.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0043 others(8): Show |
12 | 76 | 0.1579 | 26 | c.302 others(45): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86126239 | T | TAATATAT others(19): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 358 | 0.0028 | 26 | c.302 others(45): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V1A_chr3_113742035_113817056 | 113782561 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG03098.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0279 a0001c0001t0007g0280 |
2 | 309 | 0.0065 | 26 | c.211 others(43): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 3/14 | chr3 | TogoVar | |||||||
ATP6V1B1_chr2_70930900_70970431 | 70964114 | A | ATTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0017 | a0001c0017t0004 | a0001c0017t0004g0133 | 1 | 44 | 0.0227 | 26 | c.114 others(43): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1E2_chr2_46506847_46547577 | 46546478 | A | ATATATAT others(19): Show |
upstream_gene_variant | MODIFIER | NA19065.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0107 | 1 | 406 | 0.0025 | 26 | c.-46 others(37): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 3902 | chr2 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42446080 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 15 | 0.0667 | 26 | c.295 others(43): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 31/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42555319 | A | AGATAACT others(19): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0187 | 1 | 308 | 0.0032 | 26 | c.141 others(43): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42635780 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0150 | 1 | 225 | 0.0044 | 26 | c.50- others(41): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar |