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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP10A_chr15_25673712_25868327 | 25758477 | A | ACTCATTC others(45): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02630.hp1 HG02647.hp1 others(1): Show |
a0001a0007a0037 | a0001c0001a0001c0019a0007c0073others(1): Show | a0001c0001t0001a0001c0019t0001a0007c0073t0001others(1): Show | a0001c0001t0001g0039 a0001c0019t0001g0031 a0007c0073t0001g0218 others(1): Show |
4 | 300 | 0.0133 | 52 | c.655 others(71): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758477 | A | ACTCATTC others(45): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0016 | a0016c0024 | a0016c0024t0001 | a0016c0024t0001g0020 | 1 | 300 | 0.0033 | 52 | c.655 others(71): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758488 | C | CCACCTGC others(45): Show |
intron_variant | MODIFIER | HG00558.hp1 HG03453.hp2 NA19000.hp1 others(1): Show |
a0003a0005a0014others(1): Show | a0003c0003a0005c0005a0014c0020others(1): Show | a0003c0003t0001a0005c0005t0001a0014c0020t0001others(1): Show | a0003c0003t0001g0010 a0005c0005t0001g0052 a0014c0020t0001g0130 others(1): Show |
4 | 300 | 0.0133 | 52 | c.655 others(71): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758516 | T | TCACCTGC others(45): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0004 | a0004c0027 | a0004c0027t0001 | a0004c0027t0001g0012 | 1 | 300 | 0.0033 | 52 | c.655 others(71): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758533 | A | ACTCATTC others(45): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0004 | a0004c0059 | a0004c0059t0001 | a0004c0059t0001g0051 | 1 | 300 | 0.0033 | 52 | c.655 others(71): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758561 | A | ACTCATTC others(45): Show |
intron_variant | MODIFIER | HG00738.hp2 NA18943.hp1 |
a0002a0015 | a0002c0002a0015c0029 | a0002c0002t0001a0015c0029t0001 | a0002c0002t0001g0157 a0015c0029t0001g0152 |
2 | 300 | 0.0067 | 52 | c.655 others(71): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758617 | A | ACTCATTC others(45): Show |
intron_variant | MODIFIER | HG02280.hp1 NA19058.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0061 a0002c0002t0001g0154 |
2 | 300 | 0.0067 | 52 | c.654 others(71): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758628 | C | CCACCTGC others(45): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0052 | a0052c0051 | a0052c0051t0001 | a0052c0051t0001g0054 | 1 | 300 | 0.0033 | 52 | c.654 others(71): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758645 | A | ACTCATTC others(45): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0020 | a0020c0018 | a0020c0018t0001 | a0020c0018t0001g0064 | 1 | 300 | 0.0033 | 52 | c.654 others(71): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758725 | C | CCTCATTC others(45): Show |
intron_variant | MODIFIER | NA18970.hp2 NA18988.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0151 |
3 | 300 | 0.0100 | 52 | c.654 others(71): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758725 | C | CCTCATTC others(45): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 300 | 0.0033 | 52 | c.654 others(71): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758753 | A | ACTCATTC others(45): Show |
intron_variant | MODIFIER | HG02132.hp2 NA18951.hp1 NA18961.hp1 others(1): Show |
a0002a0004a0005 | a0002c0002a0004c0004a0005c0005others(1): Show | a0002c0002t0001a0004c0004t0002a0005c0005t0001others(1): Show | a0002c0002t0001g0127 a0004c0004t0002g0291 a0005c0005t0001g0266 others(1): Show |
4 | 300 | 0.0133 | 52 | c.654 others(71): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758753 | A | ACTCATTC others(45): Show |
intron_variant | MODIFIER | HG01891.hp2 HG06807.hp1 |
a0007 | a0007c0015a0007c0086 | a0007c0015t0001a0007c0086t0001 | a0007c0015t0001g0247 a0007c0086t0001g0279 |
2 | 300 | 0.0067 | 52 | c.654 others(71): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758781 | A | ACTCATTC others(45): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0020 | a0020c0018 | a0020c0018t0001 | a0020c0018t0001g0064 | 1 | 300 | 0.0033 | 52 | c.654 others(71): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160652889 | T | TTATATAA others(45): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(18): Show |
a0001a0002a0010others(3): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0065 a0001c0001t0002g0047 a0001c0001t0002g0130 others(18): Show |
21 | 236 | 0.0890 | 52 | c.676 others(69): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112803887 | A | ATTCCCCT others(45): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0008 | a0008c0023 | a0008c0023t0002 | a0008c0023t0002g0064 | 1 | 254 | 0.0039 | 52 | c.163 others(69): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112804305 | T | TCCTCCTT others(45): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02083.hp1 |
a0002a0003 | a0002c0010a0003c0007 | a0002c0010t0010a0003c0007t0011 | a0002c0010t0010g0222 a0003c0007t0011g0115 |
2 | 254 | 0.0079 | 52 | c.163 others(67): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112804353 | G | GTTCCCCT others(45): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0003 | a0003c0007 | a0003c0007t0011 | a0003c0007t0011g0105 | 1 | 254 | 0.0039 | 52 | c.163 others(67): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112863701 | C | CAGCTTCC others(45): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0008 | a0008c0023 | a0008c0023t0002 | a0008c0023t0002g0064 | 1 | 254 | 0.0039 | 52 | c.299 others(71): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 25/29 | chr13 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112864890 | C | CAGCTTCC others(45): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0004 | a0001c0004t0050 | a0001c0004t0050g0033 | 1 | 254 | 0.0039 | 52 | c.299 others(71): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 25/29 | chr13 | TogoVar | |||||||
ATP1B4_chrX_120357089_120388237 | 120374621 | T | TTATATAT others(45): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01433.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0047 | 2 | 353 | 0.0057 | 52 | c.563 others(67): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3923758 | G | GTGGGCAG others(45): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0087 | 1 | 332 | 0.0030 | 52 | c.*16 others(63): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 114 | chr17 | TogoVar | |||||||
ATP2B3_chrX_153512642_153587929 | 153584581 | A | AAGGAAGG others(45): Show |
downstream_gene_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0241 | 1 | 267 | 0.0038 | 52 | c.*42 others(63): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 1653 | chrX | TogoVar | |||||||
ATP2B3_chrX_153512642_153587929 | 153584581 | A | AAGGAAGG others(45): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0163 | 1 | 267 | 0.0038 | 52 | c.*42 others(63): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 1653 | chrX | TogoVar | |||||||
ATP2B3_chrX_153512642_153587929 | 153584581 | A | AAGGAAGG others(45): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG01258.hp1 HG02071.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0015 | a0001c0001t0001a0001c0002t0001a0001c0015t0001 | a0001c0001t0001g0050 a0001c0001t0001g0127 a0001c0001t0001g0210 others(4): Show |
7 | 267 | 0.0262 | 52 | c.*42 others(63): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 1653 | chrX | TogoVar | |||||||
ATP2B3_chrX_153512642_153587929 | 153584581 | A | AAGGAAGG others(45): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG01074.hp1 HG01109.hp1 others(6): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0013a0001c0002t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0013g0166 a0001c0002t0001g0144 others(6): Show |
9 | 267 | 0.0337 | 52 | c.*42 others(63): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 1653 | chrX | TogoVar | |||||||
ATP2B3_chrX_153512642_153587929 | 153584581 | A | AAGGAAGG others(45): Show |
downstream_gene_variant | MODIFIER | HG02004.hp2 HG02145.hp1 NA18998.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0015a0001c0001t0035a0001c0002t0001others(1): Show | a0001c0001t0015g0227 a0001c0001t0035g0070 a0001c0002t0001g0134 others(1): Show |
4 | 267 | 0.0150 | 52 | c.*42 others(63): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 1653 | chrX | TogoVar | |||||||
ATP2B3_chrX_153512642_153587929 | 153584581 | A | AAGGAAGG others(45): Show |
downstream_gene_variant | MODIFIER | NA18612.hp1 NA18939.hp1 NA18945.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0014 a0001c0001t0004g0040 a0001c0001t0004g0178 others(5): Show |
9 | 267 | 0.0337 | 52 | c.*42 others(63): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 1653 | chrX | TogoVar | |||||||
ATP2B3_chrX_153512642_153587929 | 153584581 | A | AAGGAAGG others(45): Show |
downstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 267 | 0.0038 | 52 | c.*42 others(63): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 1653 | chrX | TogoVar | |||||||
ATP2B3_chrX_153512642_153587929 | 153584581 | A | AAGGAAGG others(45): Show |
downstream_gene_variant | MODIFIER | HG02015.hp1 HG04115.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0002t0001 | a0001c0001t0018g0052 a0001c0002t0001g0116 |
2 | 267 | 0.0075 | 52 | c.*42 others(63): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 1653 | chrX | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138718202 | G | GGGGCGGG others(45): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0241 | 1 | 376 | 0.0027 | 52 | c.214 others(71): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 19/21 | chr7 | TogoVar | |||||||
ATP6V1A_chr3_113742035_113817056 | 113782561 | T | TATATATA others(45): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0283 | 1 | 312 | 0.0032 | 52 | c.211 others(69): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 3/14 | chr3 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25465748 | C | CCTCCCTC others(45): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0073 | a0001c0003t0073g0001 | 1 | 122 | 0.0082 | 52 | c.77- others(67): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25609534 | G | GGGATTCA others(45): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01175.hp2 others(1): Show |
a0001 | a0001c0001a0001c0018 | a0001c0001t0011a0001c0001t0013a0001c0018t0007 | a0001c0001t0011g0062 a0001c0001t0011g0063 a0001c0001t0013g0005 others(1): Show |
4 | 122 | 0.0328 | 52 | c.221 others(73): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25609563 | A | ATTCAAAT others(45): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01109.hp2 HG01358.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0011a0001c0003t0006a0001c0003t0018others(3): Show | a0001c0001t0011g0061 a0001c0003t0006g0078 a0001c0003t0018g0057 others(3): Show |
6 | 122 | 0.0492 | 52 | c.221 others(73): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25609565 | T | TCAAATAT others(45): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0040 | 1 | 122 | 0.0082 | 52 | c.221 others(73): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25609565 | T | TCAAATAT others(45): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00738.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(28): Show | a0001c0001t0001g0036 a0001c0001t0004g0046 a0001c0001t0005g0102 others(30): Show |
33 | 122 | 0.2705 | 52 | c.221 others(73): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57713240 | C | CTTCCTTC others(45): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0022 | 1 | 314 | 0.0032 | 52 | c.182 others(69): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57713240 | C | CTTCCTTC others(45): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0279 | 1 | 314 | 0.0032 | 52 | c.182 others(69): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57756291 | G | GTATATAT others(45): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02976.hp1 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0002g0213 a0001c0001t0003g0285 a0001c0001t0003g0303 others(2): Show |
5 | 314 | 0.0159 | 52 | c.-25 others(71): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57756291 | G | GTATATAT others(45): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00597.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0133 others(12): Show |
15 | 314 | 0.0478 | 52 | c.-25 others(71): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57756294 | T | TATATATA others(45): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0289 | 1 | 314 | 0.0032 | 52 | c.-25 others(71): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79071399 | C | CTTTTTTT others(45): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 298 | 0.0034 | 52 | c.119 others(69): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATPAF1_chr1_46627737_46673364 | 46651659 | C | CCCCCCCC others(45): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 412 | 0.0024 | 52 | c.588 others(67): Show |
ATPAF1 | ENSG00000123472.13 | transcript | ENST00000574428.6 | protein_coding | 6/8 | chr1 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142496322 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02630.hp1 HG02717.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002 | a0001c0004t0001g0157 a0001c0004t0001g0210 a0001c0004t0002g0003 others(1): Show |
4 | 322 | 0.0124 | 52 | c.589 others(67): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 34/46 | chr3 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105664575 | G | GTGTGTGT others(45): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0142 | 1 | 252 | 0.0040 | 52 | c.578 others(67): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105664575 | G | GTGTGTGT others(45): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0025 | 1 | 252 | 0.0040 | 52 | c.578 others(67): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105692424 | T | TCCTTCCT others(45): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0246 | 1 | 252 | 0.0040 | 52 | c.356 others(71): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105727748 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0150 | 1 | 252 | 0.0040 | 52 | c.355 others(71): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105733861 | T | TCCATCCA others(45): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00741.hp2 HG01069.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0019others(4): Show | a0001c0001t0003g0150 a0001c0001t0005g0182 a0001c0001t0019g0062 others(4): Show |
7 | 252 | 0.0278 | 52 | c.355 others(71): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar |