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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAAF3_chr19_55153665_55171613 | 55153755 | A | AAAAAAAA others(88): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(158): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0007a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(63): Show |
161 | 398 | 0.4045 | 95 | c.*53 others(106): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4909 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55153755 | A | AAAAAAAA others(88): Show |
downstream_gene_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 398 | 0.0025 | 95 | c.*53 others(106): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4909 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55153755 | A | AAAAAAAA others(88): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(151): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0011others(7): Show | a0001c0001t0001a0001c0004t0001a0001c0011t0001others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0051 a0001c0001t0001g0114 others(62): Show |
154 | 398 | 0.3869 | 95 | c.*53 others(106): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4909 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55153755 | A | AAAAAAAA others(88): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG02809.hp2 HG03209.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0030 a0002c0003t0001g0154 a0002c0003t0001g0155 |
4 | 398 | 0.0101 | 95 | c.*53 others(106): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4909 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55153756 | A | AAAAAAAT others(88): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG02145.hp1 others(12): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0009 a0002c0003t0001g0050 a0002c0003t0001g0108 others(5): Show |
15 | 398 | 0.0377 | 95 | c.*53 others(106): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4908 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55153764 | T | TTTTTTTT others(88): Show |
downstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 398 | 0.0025 | 95 | c.*52 others(106): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4900 | chr19 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123908121 | T | TCTGTCTC others(88): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 170 | 0.0059 | 95 | c.981 others(114): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 57/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAJC4_chr11_64225548_64239281 | 64237123 | G | GAGAGAGA others(88): Show |
downstream_gene_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 338 | 0.0030 | 95 | c.*29 others(106): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2843 | chr11 | TogoVar | |||||||
DOP1B_chr21_36151824_36299274 | 36161122 | T | TTACTGTT others(88): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0044 | 1 | 292 | 0.0034 | 95 | c.-26 others(112): Show |
DOP1B | ENSG00000142197.13 | transcript | ENST00000691173.1 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634769 | T | TCCCTTCC others(88): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 250 | 0.0040 | 95 | c.105 others(112): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634818 | C | CCCTTCCT others(88): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 250 | 0.0040 | 95 | c.105 others(112): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DR1_chr1_93340907_93374493 | 93344857 | T | TTATATAT others(88): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG01952.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018a0001c0001t0034 | a0001c0001t0002g0001 a0001c0001t0002g0069 a0001c0001t0018g0076 others(2): Show |
5 | 360 | 0.0139 | 95 | c.-17 others(106): Show |
DR1 | ENSG00000117505.13 | transcript | ENST00000370272.9 | protein_coding | 1049 | chr1 | TogoVar | |||||||
DR1_chr1_93340907_93374493 | 93344858 | T | TATATATA others(88): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0119 | a0001c0001t0119g0053 | 1 | 360 | 0.0028 | 95 | c.-17 others(106): Show |
DR1 | ENSG00000117505.13 | transcript | ENST00000370272.9 | protein_coding | 1048 | chr1 | TogoVar | |||||||
DR1_chr1_93340907_93374493 | 93344877 | A | ATTATATA others(88): Show |
upstream_gene_variant | MODIFIER | HG04199.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0095 | a0001c0001t0002g0041 a0001c0001t0095g0029 |
2 | 360 | 0.0056 | 95 | c.-17 others(106): Show |
DR1 | ENSG00000117505.13 | transcript | ENST00000370272.9 | protein_coding | 1029 | chr1 | TogoVar | |||||||
DUS3L_chr19_5780140_5796163 | 5796129 | G | GCCTTCTT others(88): Show |
upstream_gene_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0001 | 1 | 364 | 0.0028 | 95 | c.-49 others(106): Show |
DUS3L | ENSG00000141994.16 | transcript | ENST00000309061.12 | protein_coding | 4967 | chr19 | TogoVar | |||||||
DUS3L_chr19_5780140_5796163 | 5796129 | G | GCCTTCTT others(88): Show |
upstream_gene_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0001 | 1 | 364 | 0.0028 | 95 | c.-49 others(106): Show |
DUS3L | ENSG00000141994.16 | transcript | ENST00000309061.12 | protein_coding | 4967 | chr19 | TogoVar | |||||||
DYSF_chr2_71448561_71691763 | 71662936 | A | ATGTGTGT others(88): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00544.hp2 others(78): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(39): Show | a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0069 others(78): Show |
81 | 192 | 0.4219 | 95 | c.488 others(114): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 44/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71662991 | T | TGTGTGTG others(88): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0054 | 1 | 192 | 0.0052 | 95 | c.488 others(114): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 44/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71663040 | T | TGTGTGCA others(88): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02615.hp1 HG03209.hp2 others(1): Show |
a0001a0013 | a0001c0026a0001c0041a0013c0078 | a0001c0026t0001a0001c0041t0002a0013c0078t0001 | a0001c0026t0001g0048 a0001c0026t0001g0049 a0001c0041t0002g0144 others(1): Show |
4 | 192 | 0.0208 | 95 | c.488 others(114): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 44/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71662936 | A | ATGTGTGT others(88): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp2 others(83): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(42): Show | a0001c0001t0001g0005 a0001c0001t0001g0037 a0001c0001t0001g0078 others(83): Show |
86 | 208 | 0.4135 | 95 | c.500 others(114): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71662991 | T | TGTGTGTG others(88): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0085 | 1 | 208 | 0.0048 | 95 | c.500 others(114): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71663040 | T | TGTGTGCA others(88): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02615.hp1 HG03209.hp2 others(1): Show |
a0001a0014 | a0001c0026a0001c0042a0014c0083 | a0001c0026t0001a0001c0042t0001a0014c0083t0002 | a0001c0026t0001g0095 a0001c0026t0001g0097 a0001c0042t0001g0141 others(1): Show |
4 | 208 | 0.0192 | 95 | c.500 others(114): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EBI3_chr19_4224523_4242528 | 4228508 | G | GTCTCTGT others(88): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0033 |
2 | 438 | 0.0046 | 95 | c.-10 others(106): Show |
EBI3 | ENSG00000105246.6 | transcript | ENST00000221847.6 | protein_coding | 1014 | chr19 | TogoVar | |||||||
ECHDC3_chr10_11737382_11769070 | 11742311 | G | GGGGGCGG others(88): Show |
upstream_gene_variant | MODIFIER | NA18942.hp2 NA18964.hp1 NA18977.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0048 a0001c0001t0001g0133 others(2): Show |
7 | 420 | 0.0167 | 95 | c.-26 others(104): Show |
ECHDC3 | ENSG00000134463.15 | transcript | ENST00000379215.9 | protein_coding | 70 | chr10 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43675337 | T | TAGTATAG others(88): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01099.hp1 HG01257.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0139 a0002c0002t0001g0141 a0002c0002t0001g0145 others(2): Show |
5 | 290 | 0.0172 | 95 | c.141 others(114): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 13/31 | chr22 | TogoVar | |||||||
EGFLAM_chr5_38253559_38470480 | 38396045 | T | TTCACTGT others(88): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02622.hp2 others(11): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0010a0002c0009others(6): Show | a0001c0001t0001a0001c0010t0001a0001c0010t0006others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0091 a0001c0010t0001g0089 others(11): Show |
14 | 190 | 0.0737 | 95 | c.713 others(114): Show |
EGFLAM | ENSG00000164318.18 | transcript | ENST00000322350.10 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ELF2_chr4_139052265_139182218 | 139151026 | A | AACAAGAA others(88): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 342 | 0.0029 | 95 | c.-25 others(116): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110083995 | A | ATATGATA others(88): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0258 | 1 | 338 | 0.0030 | 95 | c.221 others(114): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ENTR1_chr9_136396922_136415614 | 136403327 | G | GAGAAAGG others(88): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 412 | 0.0024 | 95 | c.120 others(112): Show |
ENTR1 | ENSG00000165689.17 | transcript | ENST00000357365.8 | protein_coding | 9/9 | chr9 | TogoVar | |||||||
ENTR1_chr9_136396922_136415614 | 136403390 | C | CCCAGGGA others(88): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 412 | 0.0024 | 95 | c.120 others(112): Show |
ENTR1 | ENSG00000165689.17 | transcript | ENST00000357365.8 | protein_coding | 9/9 | chr9 | TogoVar | |||||||
EPPK1_chr8_143852324_143883467 | 143878395 | C | CCCGCACC others(88): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02895.hp2 others(2): Show |
a0044a0048a0123others(2): Show | a0044c0038a0048c0312a0123c0237others(2): Show | a0044c0038t0004a0048c0312t0001a0123c0237t0021others(2): Show | a0044c0038t0004g0051 a0048c0312t0001g0053 a0123c0237t0021g0052 others(2): Show |
5 | 424 | 0.0118 | 95 | c.-46 others(108): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212373950 | T | TCCATATA others(88): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0035 | 1 | 56 | 0.0179 | 95 | c.82+ others(114): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212373951 | C | CCATATAT others(88): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 56 | 0.0179 | 95 | c.82+ others(114): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 56040597 | A | ATATGTAT others(88): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0002 | 1 | 74 | 0.0135 | 95 | c.164 others(116): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 7/17 | chr3 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 696086 | T | TTCCTCTC others(88): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0237 | 1 | 378 | 0.0027 | 95 | c.170 others(112): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERN1_chr17_64034142_64135144 | 64035086 | G | GAATCCTA others(88): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0166 | 1 | 234 | 0.0043 | 95 | c.*89 others(106): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4055 | chr17 | TogoVar | |||||||
ERP44_chr9_99974185_100104000 | 100100920 | A | ATTATATA others(88): Show |
upstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0082 | 1 | 220 | 0.0046 | 95 | c.-20 others(106): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 1921 | chr9 | TogoVar | |||||||
ESR1_chr6_151802682_152108274 | 151850114 | T | TTATATAT others(88): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0099 | 1 | 250 | 0.0040 | 95 | c.643 others(112): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ETFA_chr15_76210353_76316469 | 76230514 | C | CCGCGCCC others(88): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0103 a0001c0001t0003g0115 |
2 | 336 | 0.0060 | 95 | c.882 others(110): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
F10_chr13_113117799_113154529 | 113151454 | T | TGAGCAGC others(88): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0370 | 1 | 412 | 0.0024 | 95 | c.*19 others(106): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 1926 | chr13 | TogoVar | |||||||
F10_chr13_113117799_113154529 | 113151492 | A | AAAGTGAT others(88): Show |
downstream_gene_variant | MODIFIER | HG02132.hp1 HG02809.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058 a0001c0002t0001g0231 |
2 | 412 | 0.0049 | 95 | c.*19 others(106): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 1964 | chr13 | TogoVar | |||||||
F10_chr13_113117799_113154529 | 113151587 | A | AAAGTGAT others(88): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG01952.hp1 HG02132.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0048 a0001c0001t0001g0050 others(9): Show |
16 | 412 | 0.0388 | 95 | c.*20 others(106): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 2059 | chr13 | TogoVar | |||||||
F10_chr13_113117799_113154529 | 113151676 | A | ATGGGAGA others(88): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0001a0002c0008t0001 | a0001c0001t0001g0057 a0002c0008t0001g0280 |
2 | 412 | 0.0049 | 95 | c.*21 others(106): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 2148 | chr13 | TogoVar | |||||||
F10_chr13_113117799_113154529 | 113151682 | A | AAAGTGAT others(88): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(183): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(168): Show |
186 | 412 | 0.4515 | 95 | c.*21 others(106): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 2154 | chr13 | TogoVar | |||||||
F10_chr13_113117799_113154529 | 113151727 | C | CCCTGAGG others(88): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG01891.hp2 HG02165.hp2 others(22): Show |
a0001a0012 | a0001c0001a0012c0020 | a0001c0001t0001a0012c0020t0001 | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0019 others(18): Show |
25 | 412 | 0.0607 | 95 | c.*22 others(106): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 2199 | chr13 | TogoVar | |||||||
F10_chr13_113117799_113154529 | 113151727 | C | CCCTGAGG others(88): Show |
downstream_gene_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 412 | 0.0024 | 95 | c.*22 others(106): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 2199 | chr13 | TogoVar | |||||||
F10_chr13_113117799_113154529 | 113154227 | G | GGCGGGGC others(88): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 412 | 0.0024 | 95 | c.*47 others(106): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 4699 | chr13 | TogoVar | |||||||
F5_chr1_169506951_169591481 | 169554159 | T | TGACCTCC others(88): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02559.hp1 HG02602.hp2 others(3): Show |
a0002a0003a0005 | a0002c0003a0002c0019a0003c0018others(2): Show | a0002c0003t0001a0002c0003t0004a0002c0019t0001others(3): Show | a0002c0003t0001g0220 a0002c0003t0004g0275 a0002c0019t0001g0284 others(3): Show |
6 | 306 | 0.0196 | 95 | c.111 others(114): Show |
F5 | ENSG00000198734.12 | transcript | ENST00000367797.9 | protein_coding | 7/24 | chr1 | TogoVar | |||||||
F5_chr1_169506951_169591481 | 169554159 | T | TGACCTCC others(88): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0004 | a0004c0051 | a0004c0051t0003 | a0004c0051t0003g0279 | 1 | 306 | 0.0033 | 95 | c.111 others(114): Show |
F5 | ENSG00000198734.12 | transcript | ENST00000367797.9 | protein_coding | 7/24 | chr1 | TogoVar | |||||||
F5_chr1_169506951_169591481 | 169554162 | C | CCTCCCTA others(88): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0011 | a0011c0036 | a0011c0036t0003 | a0011c0036t0003g0049 | 1 | 306 | 0.0033 | 95 | c.111 others(114): Show |
F5 | ENSG00000198734.12 | transcript | ENST00000367797.9 | protein_coding | 7/24 | chr1 | TogoVar |