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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASCL5_chr1_201108943_201132184 | 201111932 | C | CTTTCCTC others(22): Show |
downstream_gene_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 418 | 0.0024 | 29 | c.*28 others(40): Show |
ASCL5 | ENSG00000232237.5 | transcript | ENST00000449188.3 | protein_coding | 2010 | chr1 | TogoVar | ||||||
ASCL5_chr1_201108943_201132184 | 201111971 | T | TCCCCCAC others(22): Show |
downstream_gene_variant | MODIFIER | NA18985.hp2 | a0003 | a0003c0003 | a0003c0003t0026 | a0003c0003t0026g0057 | 1 | 418 | 0.0024 | 29 | c.*27 others(40): Show |
ASCL5 | ENSG00000232237.5 | transcript | ENST00000449188.3 | protein_coding | 1971 | chr1 | TogoVar | ||||||
ASH2L_chr8_38100529_38145080 | 38117219 | T | TGGTTATT others(22): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 330 | 0.0030 | 29 | c.853 others(44): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ASIP_chr20_34236423_34274344 | 34258700 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0212 | 1 | 306 | 0.0033 | 29 | c.-10 others(46): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASIP_chr20_34236423_34274344 | 34258700 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03225.hp1 NA18747.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025a0001c0001t0002g0216a0001c0001t0002g0217 | 4 | 306 | 0.0131 | 29 | c.-10 others(46): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASIP_chr20_34236423_34274344 | 34258700 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG02155.hp2 HG02647.hp2 HG02965.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069a0001c0001t0002g0194a0001c0001t0002g0198others(4): Show | 7 | 306 | 0.0229 | 29 | c.-10 others(46): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASPDH_chr19_50506603_50518913 | 50513457 | G | GGGGGACA others(22): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 372 | 0.0027 | 29 | c.53- others(40): Show |
ASPDH | ENSG00000204653.10 | transcript | ENST00000389208.9 | protein_coding | 1/6 | chr19 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61539699 | G | GTGTGTGT others(22): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 258 | 0.0039 | 29 | c.176 others(48): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 21/24 | chr8 | TogoVar | ||||||
ASPM_chr1_197079127_197151669 | 197148333 | C | CAAAAAAA others(22): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG02630.hp1 HG02735.hp1 |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0001a0001c0003t0001a0001c0008t0001 | a0001c0001t0001g0113a0001c0003t0001g0203a0001c0008t0001g0098 | 3 | 296 | 0.0101 | 29 | c.-18 others(40): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 1665 | chr1 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130500285 | A | ACGAACTG others(22): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 374 | 0.0027 | 29 | c.119 others(46): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 14/14 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116790970 | A | AGAAAGAA others(22): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0062 | 1 | 102 | 0.0098 | 29 | c.239 others(50): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116933979 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0062 | 1 | 102 | 0.0098 | 29 | c.188 others(50): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117016634 | A | AACCTATA others(22): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0009 | a0001c0009t0004 | a0001c0009t0004g0032 | 1 | 102 | 0.0098 | 29 | c.142 others(48): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 6/22 | chr9 | TogoVar | ||||||
ATAD2B_chr2_23743664_23932123 | 23745422 | A | AAGGAAAG others(22): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0226 | 1 | 246 | 0.0041 | 29 | c.*66 others(40): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 3241 | chr2 | TogoVar | ||||||
ATAD2B_chr2_23743664_23932123 | 23745422 | A | AAGGAAGG others(22): Show |
downstream_gene_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 246 | 0.0041 | 29 | c.*66 others(40): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 3241 | chr2 | TogoVar | ||||||
ATAD2B_chr2_23743664_23932123 | 23807907 | A | AATATAAA others(22): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG01069.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100a0001c0001t0001g0101a0001c0001t0001g0102others(3): Show | 6 | 246 | 0.0244 | 29 | c.245 others(48): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 18/27 | chr2 | TogoVar | ||||||
ATAD2B_chr2_23743664_23932123 | 23878010 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 246 | 0.0041 | 29 | c.902 others(46): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 7/27 | chr2 | TogoVar | ||||||
ATAD2B_chr2_23743664_23932123 | 23878025 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0246 | 1 | 246 | 0.0041 | 29 | c.902 others(46): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 7/27 | chr2 | TogoVar | ||||||
ATAD2_chr8_123314850_123401447 | 123354864 | A | AAAAAAAT others(22): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0007 | 1 | 278 | 0.0036 | 29 | c.164 others(48): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 13/27 | chr8 | TogoVar | ||||||
ATAD2_chr8_123314850_123401447 | 123354864 | A | AAAAATAT others(22): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0012 | 1 | 278 | 0.0036 | 29 | c.164 others(48): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 13/27 | chr8 | TogoVar | ||||||
ATAD2_chr8_123314850_123401447 | 123377091 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02630.hp1 HG02895.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0026 | a0001c0001t0001a0001c0001t0002a0002c0026t0001 | a0001c0001t0001g0263a0001c0001t0001g0265a0001c0001t0002g0048others(1): Show | 4 | 278 | 0.0144 | 29 | c.320 others(46): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 2/27 | chr8 | TogoVar | ||||||
ATCAY_chr19_3875685_3933082 | 3931338 | G | GCCGGGCT others(22): Show |
downstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0260 | 1 | 384 | 0.0026 | 29 | c.*67 others(40): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 3257 | chr19 | TogoVar | ||||||
ATF4_chr22_39515562_39527683 | 39523993 | C | CTTTTTTT others(22): Show |
downstream_gene_variant | MODIFIER | NA18966.hp1 NA18973.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 2 | 354 | 0.0057 | 29 | c.*13 others(40): Show |
ATF4 | ENSG00000128272.18 | transcript | ENST00000674920.3 | protein_coding | 1311 | chr22 | TogoVar | ||||||
ATF7_chr12_53507054_53631382 | 53587366 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG01192.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0204a0001c0001t0001g0209a0001c0001t0001g0219others(4): Show | 7 | 330 | 0.0212 | 29 | c.48+ others(46): Show |
ATF7 | ENSG00000170653.19 | transcript | ENST00000420353.7 | protein_coding | 2/11 | chr12 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 81993359 | C | CTTTCTTT others(22): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0030 | 1 | 226 | 0.0044 | 29 | c.108 others(46): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 2/7 | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 81993360 | C | CTTCTTTC others(22): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01361.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0097a0001c0001t0011g0098a0001c0001t0011g0099 | 3 | 226 | 0.0133 | 29 | c.108 others(46): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82118400 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG01891.hp1 NA18984.hp2 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0006 | a0001c0001t0001g0192a0004c0004t0006g0184 | 2 | 226 | 0.0089 | 29 | c.217 others(48): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG2B_chr14_96274195_96368341 | 96308283 | T | TATATATA others(22): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0001 | a0002c0001t0006 | a0002c0001t0006g0171 | 1 | 356 | 0.0028 | 29 | c.430 others(48): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 29/41 | chr14 | TogoVar | ||||||
ATG4A_chrX_108086778_108159671 | 108141338 | A | ATCCTATC others(22): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 249 | 0.0040 | 29 | c.814 others(46): Show |
ATG4A | ENSG00000101844.18 | transcript | ENST00000372232.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11378027 | A | ATTTTTTT others(22): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0060 | 1 | 292 | 0.0034 | 29 | c.187 others(48): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATL2_chr2_38288954_38382273 | 38329423 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG03490.hp1 NA18939.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088a0001c0001t0002g0122 | 2 | 236 | 0.0085 | 29 | c.364 others(48): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38337486 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0063 | 1 | 236 | 0.0042 | 29 | c.363 others(46): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160669918 | T | TAAAAAAA others(22): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0008 | a0001c0008t0019 | a0001c0008t0019g0087 | 1 | 236 | 0.0042 | 29 | c.675 others(44): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160704914 | C | CATCTTTT others(22): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0033 | a0001c0033t0016 | a0001c0033t0016g0210 | 1 | 236 | 0.0042 | 29 | c.-20 others(50): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 3/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160704914 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01934.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0005 | a0001c0001t0004g0232a0001c0002t0005g0127 | 2 | 236 | 0.0085 | 29 | c.-20 others(50): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 3/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160824698 | A | ATATCTAA others(22): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0053 | a0001c0002t0053g0236 | 1 | 236 | 0.0042 | 29 | c.-57 others(50): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112787832 | C | CTGATGCG others(22): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03209.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0008 | a0001c0001t0001g0065a0001c0002t0008g0066 | 2 | 254 | 0.0079 | 29 | c.162 others(46): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112828118 | G | GAAACGCC others(22): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(162): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0004others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(74): Show | a0001c0001t0001g0012a0001c0001t0001g0015a0001c0001t0001g0016others(162): Show | 165 | 254 | 0.6496 | 29 | c.122 others(48): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP13A3_chr3_194397677_194492002 | 194421944 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0009 | 1 | 304 | 0.0033 | 29 | c.331 others(48): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 30/33 | chr3 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193541248 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0289 | 1 | 302 | 0.0033 | 29 | c.60+ others(46): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | ||||||
ATP1B1_chr1_169101690_169137719 | 169114131 | G | GAGGACCC others(22): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00738.hp1 others(36): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0020a0001c0001t0001g0023a0001c0001t0001g0028others(34): Show | 39 | 412 | 0.0947 | 29 | c.226 others(46): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B1_chr12_89583049_89713838 | 89630772 | A | AATATATA others(22): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01070.hp1 others(29): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0007others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0015others(4): Show | a0001c0002t0001g0038a0001c0002t0001g0039a0001c0002t0001g0040others(29): Show | 32 | 332 | 0.0964 | 29 | c.788 others(44): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 5/20 | chr12 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84397655 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG01071.hp2 HG03704.hp1 NA18943.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0004a0002c0007 | a0001c0001t0002a0002c0004t0001a0002c0007t0001 | a0001c0001t0002g0304a0001c0001t0002g0310a0002c0004t0001g0217others(1): Show | 4 | 432 | 0.0093 | 29 | c.100 others(44): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP5MC2_chr12_53660170_53681083 | 53672083 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01169.hp2 HG01496.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0025 | 9 | 418 | 0.0215 | 29 | c.39+ others(42): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138718231 | C | CAGAGGGA others(22): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(103): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0007others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0020a0001c0001t0001g0051a0001c0001t0001g0052others(103): Show | 106 | 376 | 0.2819 | 29 | c.214 others(48): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 19/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138737113 | T | TATATATA others(22): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01515.hp1 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0014a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(6): Show | a0001c0001t0001g0020a0001c0001t0001g0077a0001c0001t0001g0092others(17): Show | 20 | 376 | 0.0532 | 29 | c.157 others(48): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 15/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138745658 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 376 | 0.0027 | 29 | c.132 others(46): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 13/21 | chr7 | TogoVar | ||||||
ATP6V1C2_chr2_10716630_10790110 | 10733812 | A | AAGTGCTT others(22): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp2 others(202): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0015others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(39): Show | a0001c0001t0001g0079a0001c0001t0001g0112a0001c0001t0001g0113others(201): Show | 205 | 354 | 0.5791 | 29 | c.197 others(46): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25937362 | C | CTTTCTTT others(22): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0003 | a0001c0003t0069 | a0001c0003t0069g0012 | 1 | 122 | 0.0082 | 29 | c.318 others(50): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8B1_chr18_57641426_57808315 | 57759155 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0005 | a0005c0007 | a0005c0007t0030 | a0005c0007t0030g0007 | 1 | 314 | 0.0032 | 29 | c.-25 others(48): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar |