regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATG4D_chr19_10538904_10558418 | 10548003 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG01069.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0006others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0018a0001c0001t0001g0066others(14): Show | 25 | 406 | 0.0616 | -18 | c.835 others(33): Show |
ATG4D | ENSG00000130734.10 | transcript | ENST00000309469.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ATIC_chr2_215307059_215354764 | 215352385 | CAGCCTGG others(11): Show |
C | downstream_gene_variant | MODIFIER | NA19001.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0023 | 1 | 382 | 0.0026 | -18 | c.*27 others(29): Show |
ATIC | ENSG00000138363.15 | transcript | ENST00000236959.14 | protein_coding | 2622 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38325661 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02129.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0226 | 1 | 236 | 0.0042 | -18 | c.364 others(35): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108317640 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0009 | a0002c0009t0035 | a0002c0009t0035g0104 | 1 | 304 | 0.0033 | -18 | c.634 others(35): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 43/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATN1_chr12_6922959_6947321 | 6928065 | CCGGGCGG others(11): Show |
C | 5_prime_UTR_variant | MODIFIER | HG02615.hp1 | a0007 | a0007c0038 | a0007c0038t0008 | a0007c0038t0008g0004 | 1 | 414 | 0.0024 | -18 | c.-46 others(27): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 1/10 | 5906 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
ATN1_chr12_6922959_6947321 | 6936728 | ACAGCAGC others(11): Show |
A | disruptive_inframe_deletion | MODERATE | HG02135.hp2 HG02258.hp2 HG02809.hp2 others(7): Show |
a0011 | a0011c0016a0011c0020 | a0011c0016t0001a0011c0016t0005a0011c0016t0006others(1): Show | a0011c0016t0001g0043a0011c0016t0005g0017a0011c0016t0005g0050others(3): Show | 10 | 414 | 0.0242 | -18 | c.149 others(27): Show |
p.Gln others(13): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 5/10 | 2079/4702 | 1491/3573 | 497/1190 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
ATP10A_chr15_25673712_25868327 | 25730311 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02559.hp2 others(10): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0019a0003c0003others(3): Show | a0001c0001t0001a0001c0019t0003a0003c0003t0001others(4): Show | a0001c0001t0001g0038a0001c0001t0001g0060a0001c0001t0001g0208others(10): Show | 13 | 300 | 0.0433 | -18 | c.741 others(35): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 3/20 | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25750704 | TATGATGA others(11): Show |
T | intron_variant | MODIFIER | HG03453.hp1 | a0030 | a0030c0051 | a0030c0051t0001 | a0030c0051t0001g0024 | 1 | 300 | 0.0033 | -18 | c.655 others(37): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25847609 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG03041.hp1 NA19240.hp1 |
a0009a0050 | a0009c0045a0050c0041 | a0009c0045t0001a0050c0041t0001 | a0009c0045t0001g0049a0050c0041t0001g0171 | 2 | 300 | 0.0067 | -18 | c.449 others(37): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160653364 | ACGTACAT others(11): Show |
A | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0008 | 1 | 236 | 0.0042 | -18 | c.676 others(35): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160693403 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG02976.hp2 HG03492.hp2 HG03688.hp2 others(1): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0009a0001c0011t0025 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0009g0098others(1): Show | 4 | 236 | 0.0170 | -18 | c.-20 others(37): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 3/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160755824 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG03834.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0099 | 1 | 236 | 0.0042 | -18 | c.-33 others(39): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160755830 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01192.hp2 others(15): Show |
a0001a0002a0008others(2): Show | a0001c0001a0001c0002a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0007others(10): Show | a0001c0001t0001g0169a0001c0001t0001g0170a0001c0001t0001g0182others(15): Show | 18 | 236 | 0.0763 | -18 | c.-33 others(39): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160783562 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0025 | 1 | 236 | 0.0042 | -18 | c.-33 others(37): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160787105 | GACACACA others(11): Show |
G | intron_variant | MODIFIER | HG02717.hp1 HG02818.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0002t0010a0001c0005t0012others(1): Show | a0001c0001t0002g0004a0001c0002t0010g0003a0001c0005t0012g0002others(1): Show | 4 | 236 | 0.0170 | -18 | c.-57 others(37): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160812014 | CAGAGACA others(11): Show |
C | intron_variant | MODIFIER | HG02083.hp2 HG03710.hp2 HG03942.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0002c0004t0004 | a0001c0001t0001g0159a0001c0001t0002g0154a0002c0004t0004g0146 | 3 | 236 | 0.0127 | -18 | c.-57 others(39): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160822989 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG00621.hp2 | a0002 | a0002c0004 | a0002c0004t0008 | a0002c0004t0008g0049 | 1 | 236 | 0.0042 | -18 | c.-57 others(39): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | ||||||
ATP10D_chr4_47480275_47598486 | 47528458 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01243.hp2 others(5): Show |
a0001a0002a0016 | a0001c0016a0002c0008a0016c0018 | a0001c0016t0002a0002c0008t0002a0016c0018t0010 | a0001c0016t0002g0309a0001c0016t0002g0310a0001c0016t0002g0311others(5): Show | 8 | 332 | 0.0241 | -18 | c.776 others(35): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ATP10D_chr4_47480275_47598486 | 47528497 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG06807.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0044 | 1 | 332 | 0.0030 | -18 | c.776 others(35): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112719379 | TTGAAACA others(11): Show |
T | intron_variant | MODIFIER | NA19002.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0170 | 1 | 254 | 0.0039 | -18 | c.39+ others(35): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11B_chr3_182788504_182926629 | 182854752 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(34): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0004a0001c0002t0006others(5): Show | a0001c0001t0001g0062a0001c0001t0001g0107a0001c0002t0004g0007others(33): Show | 37 | 324 | 0.1142 | -18 | c.852 others(35): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 10/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP11C_chrX_139721348_139938053 | 139742874 | AAAATATA others(11): Show |
A | intron_variant | MODIFIER | HG02071.hp1 HG02083.hp1 NA18953.hp1 others(1): Show |
a0001a0006 | a0001c0003a0006c0006 | a0001c0003t0002a0006c0006t0002 | a0001c0003t0002g0039a0001c0003t0002g0040a0001c0003t0002g0042others(1): Show | 4 | 234 | 0.0171 | -18 | c.303 others(35): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 26/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139742876 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02970.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011a0001c0001t0025 | a0001c0001t0004g0062a0001c0001t0011g0036a0001c0001t0025g0035 | 3 | 234 | 0.0128 | -18 | c.303 others(35): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 26/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139922223 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02630.hp1 HG02896.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0013a0001c0001t0034a0003c0004t0004 | a0001c0001t0013g0232a0001c0001t0034g0226a0003c0004t0004g0196 | 3 | 234 | 0.0128 | -18 | c.27+ others(33): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
ATP12A_chr13_24675408_24717472 | 24681327 | GCTGGCTG others(11): Show |
G | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 382 | 0.0026 | -18 | c.10- others(31): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP13A1_chr19_19640198_19668676 | 19666607 | GTTTTTTT others(11): Show |
G | upstream_gene_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG03209.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0085a0001c0007t0001g0052a0001c0007t0001g0053 | 3 | 380 | 0.0079 | -18 | c.-29 others(29): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 2932 | chr19 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193418121 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG01261.hp1 HG02148.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0004t0015others(2): Show | a0001c0001t0001g0164a0001c0001t0001g0166a0001c0001t0002g0240others(3): Show | 6 | 302 | 0.0199 | -18 | c.284 others(37): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 25/29 | chr3 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193545973 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(118): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0116others(117): Show | 121 | 302 | 0.4007 | -18 | c.60+ others(33): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | ||||||
ATP1A3_chr19_41961582_41999230 | 41967983 | AAGACAGG others(11): Show |
A | intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 282 | 0.0036 | -18 | c.282 others(35): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 20/22 | chr19 | TogoVar | ||||||
ATP1A3_chr19_41961582_41999230 | 41983579 | AATAATAA others(11): Show |
A | intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 282 | 0.0036 | -18 | c.993 others(35): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 8/22 | chr19 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141874779 | CTTTTTTT others(11): Show |
C | upstream_gene_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 408 | 0.0025 | -18 | c.-20 others(29): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1863 | chr3 | TogoVar | ||||||
ATP2A1_chr16_28873488_28909466 | 28880524 | GCTGCGGG others(11): Show |
G | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128a0001c0001t0001g0129 | 2 | 380 | 0.0053 | -18 | c.220 others(33): Show |
ATP2A1 | ENSG00000196296.14 | transcript | ENST00000395503.9 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP2A3_chr17_3918873_3969437 | 3966363 | GTTTTTTT others(11): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00735.hp1 others(37): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0025a0001c0002t0001others(23): Show | a0001c0001t0001g0297a0001c0001t0001g0298a0001c0001t0025g0123others(36): Show | 40 | 332 | 0.1205 | -18 | c.-20 others(29): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1927 | chr17 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89643160 | GTATGTAT others(11): Show |
G | intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0055 | 1 | 332 | 0.0030 | -18 | c.209 others(33): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 2/20 | chr12 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10319761 | TGAGAGAG others(11): Show |
T | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG02280.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0015a0001c0002t0007a0001c0003t0007others(6): Show | a0001c0001t0015g0163a0001c0002t0007g0057a0001c0003t0007g0192others(10): Show | 14 | 290 | 0.0483 | -18 | c.*90 others(29): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 4261 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10356074 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01255.hp2 NA20805.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0004 | a0001c0001t0003g0198a0001c0004t0004g0026 | 2 | 290 | 0.0069 | -18 | c.213 others(37): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 14/22 | chr3 | TogoVar | ||||||
ATP2B3_chrX_153512642_153587929 | 153513428 | ATGTGTGT others(11): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02040.hp1 HG02109.hp2 others(28): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0020others(14): Show | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0001t0001g0080others(26): Show | 31 | 267 | 0.1161 | -18 | c.-46 others(29): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 4213 | chrX | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203626272 | GGTGTGTG others(11): Show |
G | upstream_gene_variant | MODIFIER | HG02886.hp1 HG03516.hp2 |
a0001 | a0001c0001a0001c0023 | a0001c0001t0029a0001c0023t0060 | a0001c0001t0029g0011a0001c0023t0060g0019 | 2 | 318 | 0.0063 | -18 | c.-14 others(29): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 559 | chr1 | TogoVar | ||||||
ATP2C1_chr3_130889084_131008150 | 130902284 | GTTTTTTT others(11): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02523.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088a0001c0001t0001g0311 | 2 | 382 | 0.0052 | -18 | c.6+7 others(31): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP2C1_chr3_130889084_131008150 | 130941223 | AGTGTGTG others(11): Show |
A | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 382 | 0.0026 | -18 | c.423 others(33): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP5F1A_chr18_46075248_46103296 | 46092180 | AAATAATA others(11): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG03195.hp2 HG03225.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0038a0001c0001t0081others(1): Show | a0001c0001t0003g0235a0001c0001t0038g0208a0001c0001t0038g0209others(2): Show | 5 | 390 | 0.0128 | -18 | c.140 others(33): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 2/11 | chr18 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53667952 | CACACATA others(11): Show |
C | intron_variant | MODIFIER | HG01515.hp2 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161a0001c0001t0001g0187 | 2 | 418 | 0.0048 | -18 | c.311 others(35): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | ||||||
ATP5ME_chr4_667436_679276 | 668487 | ACTACCCC others(11): Show |
A | downstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 394 | 0.0025 | -18 | c.*39 others(29): Show |
ATP5ME | ENSG00000169020.10 | transcript | ENST00000304312.5 | protein_coding | 3948 | chr4 | TogoVar | ||||||
ATP5ME_chr4_667436_679276 | 668734 | GCCATGCT others(11): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0019 | 2 | 394 | 0.0051 | -18 | c.*37 others(29): Show |
ATP5ME | ENSG00000169020.10 | transcript | ENST00000304312.5 | protein_coding | 3701 | chr4 | TogoVar | ||||||
ATP5ME_chr4_667436_679276 | 668891 | TTCCCCTA others(11): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 3 | 394 | 0.0076 | -18 | c.*35 others(29): Show |
ATP5ME | ENSG00000169020.10 | transcript | ENST00000304312.5 | protein_coding | 3544 | chr4 | TogoVar | ||||||
ATP5ME_chr4_667436_679276 | 669225 | TTCCCCTA others(11): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00544.hp1 others(68): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(4): Show | 71 | 394 | 0.1802 | -18 | c.*32 others(29): Show |
ATP5ME | ENSG00000169020.10 | transcript | ENST00000304312.5 | protein_coding | 3210 | chr4 | TogoVar | ||||||
ATP5ME_chr4_667436_679276 | 669416 | GCTACCCC others(11): Show |
G | downstream_gene_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 394 | 0.0025 | -18 | c.*30 others(29): Show |
ATP5ME | ENSG00000169020.10 | transcript | ENST00000304312.5 | protein_coding | 3019 | chr4 | TogoVar | ||||||
ATP5MGL_chr22_42634803_42645601 | 42643551 | CTCCATGC others(11): Show |
C | upstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 374 | 0.0027 | -18 | c.-32 others(29): Show |
ATP5MGL | ENSG00000249222.1 | transcript | ENST00000505920.1 | protein_coding | 2951 | chr22 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138702249 | CCGAGGTG others(11): Show |
C | downstream_gene_variant | MODIFIER | HG02976.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014 | a0001c0001t0002g0030a0001c0001t0014g0376 | 2 | 376 | 0.0053 | -18 | c.*43 others(29): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 4044 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138702250 | CGAGGTGG others(11): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00558.hp1 others(54): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0007others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | a0001c0001t0001g0041a0001c0001t0001g0051a0001c0001t0001g0058others(54): Show | 57 | 376 | 0.1516 | -18 | c.*43 others(29): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 4043 | chr7 | TogoVar |