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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EXT1_chr8_117789490_118116826 | 118073627 | AGAGAAAG others(13): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0008 | a0001c0008t0016 | a0001c0008t0016g0163 | 1 | 190 | 0.0053 | -20 | c.962 others(39): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 118073632 | AAGAAGAG others(13): Show |
A | intron_variant | MODIFIER | HG01884.hp1 NA18941.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0046 | a0001c0001t0001g0123 a0001c0003t0046g0094 |
2 | 190 | 0.0105 | -20 | c.962 others(39): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 118096660 | AAGGAAGG others(13): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00738.hp1 HG02055.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0001g0084 a0001c0001t0001g0145 a0001c0001t0001g0146 others(7): Show |
10 | 190 | 0.0526 | -20 | c.962 others(39): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT2_chr11_44090678_44256962 | 44119124 | TTATATAT others(13): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG02630.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0028a0001c0001t0063 | a0001c0001t0002g0215 a0001c0001t0028g0252 a0001c0001t0028g0253 others(1): Show |
4 | 334 | 0.0120 | -20 | c.743 others(37): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EXT2_chr11_44090678_44256962 | 44212298 | TATAAATA others(13): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01346.hp2 HG01515.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0001c0001t0031a0002c0005t0061 | a0001c0001t0002g0196 a0001c0001t0002g0199 a0001c0001t0002g0201 others(3): Show |
6 | 334 | 0.0180 | -20 | c.166 others(39): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EYA1_chr8_71192433_71367069 | 71364939 | CATATATA others(13): Show |
C | upstream_gene_variant | MODIFIER | HG02818.hp1 HG02922.hp2 HG02965.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0009a0001c0001t0010a0001c0003t0017 | a0001c0001t0009g0008 a0001c0001t0010g0005 a0001c0001t0010g0006 others(1): Show |
4 | 232 | 0.0172 | -20 | c.-33 others(31): Show |
EYA1 | ENSG00000104313.20 | transcript | ENST00000340726.8 | protein_coding | 2871 | chr8 | TogoVar | |||||||
EYA2_chr20_46889843_47193844 | 47014628 | ATGTGTGT others(13): Show |
A | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0234 | 1 | 238 | 0.0042 | -20 | c.299 others(37): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47057139 | GAGGAAGG others(13): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01192.hp1 HG01361.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0014 a0001c0001t0002g0021 a0001c0001t0002g0114 others(7): Show |
10 | 238 | 0.0420 | -20 | c.416 others(39): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47100003 | CTTTGGTT others(13): Show |
C | intron_variant | MODIFIER | HG01358.hp2 HG01884.hp1 HG02258.hp2 others(5): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0020 a0001c0001t0001g0173 a0001c0001t0002g0106 others(5): Show |
8 | 238 | 0.0336 | -20 | c.888 others(37): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47156123 | CACACATA others(13): Show |
C | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0121 | 1 | 238 | 0.0042 | -20 | c.978 others(39): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47156127 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG02071.hp1 HG02135.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0060 a0001c0001t0003g0107 |
2 | 238 | 0.0084 | -20 | c.979 others(39): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47166393 | TAAAAAAA others(13): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG01358.hp2 HG02615.hp1 others(3): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0002a0001c0001t0003a0005c0006t0002others(1): Show | a0001c0001t0002g0038 a0001c0001t0002g0044 a0001c0001t0002g0106 others(3): Show |
6 | 238 | 0.0252 | -20 | c.979 others(37): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47185276 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG02809.hp1 HG02976.hp2 HG03041.hp2 others(1): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0008 | a0001c0001t0001a0001c0001t0003a0001c0002t0004others(1): Show | a0001c0001t0001g0141 a0001c0001t0003g0191 a0001c0002t0004g0028 others(1): Show |
4 | 238 | 0.0168 | -20 | c.153 others(39): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA4_chr6_133236357_133537128 | 133299714 | AAAAATAA others(13): Show |
A | intron_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0141 | 1 | 264 | 0.0038 | -20 | c.33+ others(37): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 63760648 | ATATCTAT others(13): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0019 | a0019c0023 | a0019c0023t0001 | a0019c0023t0001g0010 | 1 | 24 | 0.0417 | -20 | c.807 others(39): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 41/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 63798967 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0019 | a0019c0023 | a0019c0023t0001 | a0019c0023t0001g0010 | 1 | 24 | 0.0417 | -20 | c.741 others(39): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 37/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 64011989 | TTCCTCTC others(13): Show |
T | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0012 | 1 | 24 | 0.0417 | -20 | c.672 others(41): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 33/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 64404378 | AGAGTGTG others(13): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG03098.hp2 HG03209.hp2 |
a0004a0008a0016 | a0004c0017a0008c0007a0016c0014 | a0004c0017t0001a0008c0007t0001a0016c0014t0001 | a0004c0017t0001g0002 a0008c0007t0001g0009 a0016c0014t0001g0005 |
3 | 24 | 0.1250 | -20 | c.592 others(41): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 28/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 64766647 | AAAATATA others(13): Show |
A | intron_variant | MODIFIER | HG01169.hp2 | a0003 | a0003c0019 | a0003c0019t0001 | a0003c0019t0001g0006 | 1 | 24 | 0.0417 | -20 | c.344 others(41): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 22/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 64950792 | CATATACA others(13): Show |
C | intron_variant | MODIFIER | HG02896.hp1 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0015 | 1 | 24 | 0.0417 | -20 | c.226 others(39): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 14/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 65064240 | GATATATA others(13): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02630.hp2 HG02965.hp2 others(1): Show |
a0002a0003a0004others(1): Show | a0002c0021a0003c0002a0004c0017others(1): Show | a0002c0021t0001a0003c0002t0002a0004c0017t0001others(1): Show | a0002c0021t0001g0008 a0003c0002t0002g0019 a0004c0017t0001g0002 others(1): Show |
4 | 24 | 0.1667 | -20 | c.202 others(39): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 12/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 65141645 | GTCTGTCT others(13): Show |
G | intron_variant | MODIFIER | HG01169.hp2 HG02451.hp1 HG02622.hp1 others(8): Show |
a0002a0003a0005others(8): Show | a0002c0021a0003c0019a0005c0010others(8): Show | a0002c0021t0001a0003c0019t0001a0005c0010t0001others(8): Show | a0002c0021t0001g0008 a0003c0019t0001g0006 a0005c0010t0001g0015 others(8): Show |
11 | 24 | 0.4583 | -20 | c.202 others(41): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 12/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 65153363 | ATGTGTGT others(13): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0020 | 1 | 24 | 0.0417 | -20 | c.202 others(41): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 12/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 65182543 | AATTTCCT others(13): Show |
A | intron_variant | MODIFIER | HG01169.hp2 HG02896.hp1 |
a0003a0005 | a0003c0019a0005c0010 | a0003c0019t0001a0005c0010t0001 | a0003c0019t0001g0006 a0005c0010t0001g0015 |
2 | 24 | 0.0833 | -20 | c.202 others(43): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 12/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 65371727 | CTCTCTCT others(13): Show |
C | intron_variant | MODIFIER | HG02886.hp1 | a0020 | a0020c0015 | a0020c0015t0002 | a0020c0015t0002g0023 | 1 | 24 | 0.0417 | -20 | c.129 others(41): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 8/42 | chr6 | TogoVar | |||||||
EZH2_chr7_148802383_148889291 | 148839053 | TAAGGAAG others(13): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG01175.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0088 others(5): Show |
8 | 380 | 0.0211 | -20 | c.247 others(37): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 3/19 | chr7 | TogoVar | |||||||
EZH2_chr7_148802383_148889291 | 148866545 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG02970.hp1 NA18906.hp1 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0001a0001c0007t0001 | a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0007t0001g0376 |
3 | 380 | 0.0079 | -20 | c.-8+ others(37): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 1/19 | chr7 | TogoVar | |||||||
EZH2_chr7_148802383_148889291 | 148866654 | ATACGTAT others(13): Show |
A | intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209 | 1 | 380 | 0.0026 | -20 | c.-8+ others(37): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 1/19 | chr7 | TogoVar | |||||||
EZH2_chr7_148802383_148889291 | 148866678 | GTATATGC others(13): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG02970.hp1 NA18906.hp1 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0001a0001c0007t0001 | a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0007t0001g0376 |
3 | 380 | 0.0079 | -20 | c.-8+ others(37): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 1/19 | chr7 | TogoVar | |||||||
EZR_chr6_158760748_158824368 | 158774672 | AACACACA others(13): Show |
A | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 312 | 0.0032 | -20 | c.795 others(37): Show |
EZR | ENSG00000092820.19 | transcript | ENST00000367075.4 | protein_coding | 8/13 | chr6 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6198244 | TTTGAATA others(13): Show |
T | intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 292 | 0.0034 | -20 | c.111 others(37): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 8/14 | chr6 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6293778 | AGAGAGAG others(13): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 292 | 0.0034 | -20 | c.319 others(39): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 3/14 | chr6 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6316078 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG02040.hp2 HG02080.hp2 others(5): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0015a0004c0016others(1): Show | a0001c0001t0001a0001c0001t0002a0003c0015t0001others(2): Show | a0001c0001t0001g0198 a0001c0001t0001g0256 a0001c0001t0001g0258 others(5): Show |
8 | 292 | 0.0274 | -20 | c.130 others(37): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 2/14 | chr6 | TogoVar | |||||||
FAAH2_chrX_57281706_57494193 | 57306690 | TTGTGTGT others(13): Show |
T | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0152 | 1 | 282 | 0.0036 | -20 | c.276 others(37): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FAAH2_chrX_57281706_57494193 | 57352030 | ATATATAC others(13): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01081.hp1 HG01358.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0161 a0001c0002t0002g0180 a0001c0002t0002g0190 others(5): Show |
8 | 282 | 0.0284 | -20 | c.742 others(39): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FAAH_chr1_46389317_46418845 | 46397937 | TTTTTTTT others(13): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00673.hp1 others(60): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(30): Show |
63 | 370 | 0.1703 | -20 | c.195 others(37): Show |
FAAH | ENSG00000117480.16 | transcript | ENST00000243167.9 | protein_coding | 1/14 | chr1 | TogoVar | |||||||
FAAP100_chr17_81534891_81557353 | 81535651 | CCATCCCC others(13): Show |
C | downstream_gene_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0222 | 1 | 436 | 0.0023 | -20 | c.*51 others(31): Show |
FAAP100 | ENSG00000185504.17 | transcript | ENST00000327787.13 | protein_coding | 4239 | chr17 | TogoVar | |||||||
FAAP100_chr17_81534891_81557353 | 81542188 | AAAAAAAA others(13): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG01256.hp1 HG01258.hp1 others(14): Show |
a0001a0002a0009 | a0001c0001a0002c0004a0009c0011 | a0001c0001t0001a0002c0004t0002a0009c0011t0001 | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0123 others(3): Show |
17 | 436 | 0.0390 | -20 | c.242 others(37): Show |
FAAP100 | ENSG00000185504.17 | transcript | ENST00000327787.13 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
FAAP100_chr17_81534891_81557353 | 81542190 | AAAAAAAA others(13): Show |
A | intron_variant | MODIFIER | HG02155.hp2 HG02602.hp2 NA19011.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0133 others(1): Show |
4 | 436 | 0.0092 | -20 | c.242 others(37): Show |
FAAP100 | ENSG00000185504.17 | transcript | ENST00000327787.13 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
FABP6_chr5_160224506_160243716 | 160229821 | TTTTTATT others(13): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(107): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0019 others(46): Show |
110 | 476 | 0.2311 | -20 | c.67+ others(33): Show |
FABP6 | ENSG00000170231.16 | transcript | ENST00000402432.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
FABP6_chr5_160224506_160243716 | 160243244 | AAAATAAA others(13): Show |
A | downstream_gene_variant | MODIFIER | HG01123.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0112 | 1 | 476 | 0.0021 | -20 | c.*45 others(31): Show |
FABP6 | ENSG00000170231.16 | transcript | ENST00000402432.4 | protein_coding | 4529 | chr5 | TogoVar | |||||||
FADS1_chr11_61794627_61822003 | 61799115 | CAAAAAAA others(13): Show |
C | downstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 272 | 0.0037 | -20 | c.*32 others(31): Show |
FADS1 | ENSG00000149485.19 | transcript | ENST00000350997.12 | protein_coding | 511 | chr11 | TogoVar | |||||||
FADS6_chr17_74872302_74898633 | 74888142 | ACACACAC others(13): Show |
A | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 440 | 0.0023 | -20 | c.411 others(37): Show |
FADS6 | ENSG00000172782.13 | transcript | ENST00000612771.5 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
FADS6_chr17_74872302_74898633 | 74888144 | ACACACAC others(13): Show |
A | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 | 1 | 440 | 0.0023 | -20 | c.411 others(37): Show |
FADS6 | ENSG00000172782.13 | transcript | ENST00000612771.5 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
FAF1_chr1_50432028_50965267 | 50490384 | AAAGGAAG others(13): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG01243.hp1 HG01256.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0016others(1): Show | a0001c0001t0002g0126 a0001c0001t0002g0154 a0001c0001t0002g0155 others(7): Show |
10 | 190 | 0.0526 | -20 | c.165 others(37): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 17/18 | chr1 | TogoVar | |||||||
FAF1_chr1_50432028_50965267 | 50519358 | AGGAAGGA others(13): Show |
A | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 | 1 | 190 | 0.0053 | -20 | c.149 others(41): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 15/18 | chr1 | TogoVar | |||||||
FAF1_chr1_50432028_50965267 | 50624002 | GAAGAAGA others(13): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00741.hp1 HG01256.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(11): Show | a0001c0001t0001g0099 a0001c0001t0001g0163 a0001c0001t0001g0166 others(23): Show |
26 | 190 | 0.1368 | -20 | c.745 others(39): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 8/18 | chr1 | TogoVar | |||||||
FAF1_chr1_50432028_50965267 | 50746274 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | NA20805.hp2 homoSapiens_chm13v2.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0106 a0002c0004t0001g0091 |
2 | 190 | 0.0105 | -20 | c.368 others(37): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 4/18 | chr1 | TogoVar | |||||||
FAF1_chr1_50432028_50965267 | 50746276 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG00733.hp2 NA18942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008 | a0001c0001t0001g0107 a0001c0001t0005g0112 a0001c0001t0008g0156 |
3 | 190 | 0.0158 | -20 | c.368 others(37): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 4/18 | chr1 | TogoVar | |||||||
FAF1_chr1_50432028_50965267 | 50917624 | AAAAGGAA others(13): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00741.hp1 HG01175.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(6): Show | a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 others(14): Show |
17 | 190 | 0.0895 | -20 | c.45+ others(37): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 1/18 | chr1 | TogoVar |