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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDKL5_chrX_18420608_18645196 | 18640434 | A | ACCCCCCC others(1): Show |
downstream_gene_variant | MODIFIER | NA18953.hp1 | a0003 | a0003c0004 | a0003c0004t0026 | a0003c0004t0026g0079 | 1 | 192 | 0.0052 | 8 | c.*11 others(21): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 239 | chrX | TogoVar | |||||||
CDKN1A_chr6_36673714_36692332 | 36680307 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01074.hp2 others(48): Show |
a0001a0002a0003 | a0001c0001a0001c0010a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(41): Show |
51 | 454 | 0.1123 | 8 | c.-6+ others(23): Show |
CDKN1A | ENSG00000124762.14 | transcript | ENST00000244741.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKN1A_chr6_36673714_36692332 | 36680340 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01255.hp1 others(16): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0056 a0001c0001t0001g0328 a0001c0001t0001g0329 others(15): Show |
19 | 454 | 0.0419 | 8 | c.-6+ others(23): Show |
CDKN1A | ENSG00000124762.14 | transcript | ENST00000244741.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKN1A_chr6_36673714_36692332 | 36681264 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01261.hp1 HG01952.hp1 others(14): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0009a0001c0010t0001 | a0001c0001t0001g0012 a0001c0001t0001g0049 a0001c0001t0001g0169 others(10): Show |
17 | 454 | 0.0374 | 8 | c.-6+ others(23): Show |
CDKN1A | ENSG00000124762.14 | transcript | ENST00000244741.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKN1A_chr6_36673714_36692332 | 36681266 | T | TTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01192.hp2 HG01257.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(2): Show | a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0120 others(13): Show |
21 | 454 | 0.0463 | 8 | c.-6+ others(23): Show |
CDKN1A | ENSG00000124762.14 | transcript | ENST00000244741.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKN1A_chr6_36673714_36692332 | 36681334 | T | TTCTTTTT others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02145.hp1 HG02738.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0291 a0001c0001t0001g0300 others(5): Show |
10 | 454 | 0.0220 | 8 | c.-6+ others(23): Show |
CDKN1A | ENSG00000124762.14 | transcript | ENST00000244741.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKN1A_chr6_36673714_36692332 | 36681361 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02809.hp1 HG02818.hp2 others(20): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0015a0002c0002t0016others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0041 others(15): Show |
23 | 454 | 0.0507 | 8 | c.-6+ others(23): Show |
CDKN1A | ENSG00000124762.14 | transcript | ENST00000244741.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKN1A_chr6_36673714_36692332 | 36681411 | T | TTCTCTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(117): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 others(100): Show |
120 | 454 | 0.2643 | 8 | c.-6+ others(23): Show |
CDKN1A | ENSG00000124762.14 | transcript | ENST00000244741.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKN2AIPNL_chr5_134397065_134416881 | 134407256 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00735.hp1 HG01167.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0034 others(3): Show |
27 | 380 | 0.0711 | 8 | c.339 others(25): Show |
CDKN2AIPNL | ENSG00000237190.4 | transcript | ENST00000458198.3 | protein_coding | 2/2 | chr5 | TogoVar | |||||||
CDKN2A_chr9_21962752_21999392 | 21981148 | A | ATATACGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(208): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0013 others(204): Show |
211 | 404 | 0.5223 | 8 | c.194 others(25): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CDKN2A_chr9_21962752_21999392 | 21981148 | A | ATATATAC others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02818.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 a0001c0001t0001g0268 a0001c0001t0001g0269 others(1): Show |
4 | 404 | 0.0099 | 8 | c.194 others(25): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CDKN2A_chr9_21962752_21999392 | 21981170 | A | ATATATAC others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02258.hp1 HG02486.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0179 a0001c0001t0001g0277 others(2): Show |
6 | 404 | 0.0149 | 8 | c.194 others(25): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CDKN2A_chr9_21962752_21999392 | 21987396 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG00733.hp1 HG00738.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0024 a0001c0001t0001g0113 a0001c0001t0001g0211 others(11): Show |
14 | 404 | 0.0347 | 8 | c.193 others(25): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CDKN2A_chr9_21962752_21999392 | 21990611 | T | TGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02129.hp2 HG04199.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0123 a0001c0001t0001g0195 a0001c0001t0002g0282 others(1): Show |
4 | 404 | 0.0099 | 8 | c.193 others(25): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CDKN2A_chr9_21962752_21999392 | 21993799 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01433.hp1 HG01928.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(3): Show |
6 | 404 | 0.0149 | 8 | c.193 others(23): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CDKN2B_chr9_21997903_22014305 | 22005112 | A | ATGTGTGT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG02056.hp2 HG02165.hp1 HG02622.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0030a0001c0001t0031others(1): Show | a0001c0001t0006g0005 a0001c0001t0030g0071 a0001c0001t0031g0043 others(1): Show |
23 | 416 | 0.0553 | 8 | c.*86 others(17): Show |
CDKN2B | ENSG00000147883.12 | transcript | ENST00000276925.7 | protein_coding | 2/2 | 874 | chr9 | TogoVar | ||||||
CDKN2D_chr19_10561460_10573979 | 10570547 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01256.hp2 HG03209.hp2 NA18747.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 |
7 | 410 | 0.0171 | 8 | c.-18 others(19): Show |
CDKN2D | ENSG00000129355.7 | transcript | ENST00000393599.3 | protein_coding | 1569 | chr19 | TogoVar | |||||||
CDNF_chr10_14814245_14843037 | 14814974 | A | AAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp2 others(81): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(74): Show |
84 | 418 | 0.2010 | 8 | c.*50 others(19): Show |
CDNF | ENSG00000185267.10 | transcript | ENST00000465530.2 | protein_coding | 4270 | chr10 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 125958565 | A | ATATATGT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG02027.hp1 NA18942.hp2 NA18966.hp2 |
a0001a0031 | a0001c0004a0031c0066 | a0001c0004t0032a0001c0004t0063a0031c0066t0032 | a0001c0004t0032g0050 a0001c0004t0063g0185 a0031c0066t0032g0026 |
3 | 334 | 0.0090 | 8 | c.*23 others(19): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 20/20 | 2376 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 125958565 | A | ATATGTGT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01123.hp1 HG02895.hp1 HG02922.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0030a0002c0002t0033a0002c0002t0066 | a0002c0002t0030g0018 a0002c0002t0030g0023 a0002c0002t0033g0268 others(2): Show |
5 | 334 | 0.0150 | 8 | c.*23 others(19): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 20/20 | 2376 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 125958565 | A | ATGTGTGT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG02280.hp2 HG02486.hp1 HG02886.hp1 others(3): Show |
a0013a0014a0015others(1): Show | a0013c0059a0014c0032a0015c0041others(2): Show | a0013c0059t0108a0014c0032t0036a0014c0032t0088others(3): Show | a0013c0059t0108g0327 a0014c0032t0036g0323 a0014c0032t0088g0271 others(3): Show |
6 | 334 | 0.0180 | 8 | c.*23 others(19): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 20/20 | 2376 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 125971382 | C | CTAAATAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp1 others(75): Show |
a0001a0002a0003others(7): Show | a0001c0004a0001c0021a0001c0035others(15): Show | a0001c0004t0003a0001c0004t0022a0001c0004t0031others(39): Show | a0001c0004t0003g0048 a0001c0004t0003g0062 a0001c0004t0003g0067 others(73): Show |
78 | 334 | 0.2335 | 8 | c.335 others(27): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 18/19 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 125981970 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02109.hp2 HG02451.hp2 others(7): Show |
a0001a0002a0008others(1): Show | a0001c0071a0002c0014a0002c0019others(2): Show | a0001c0071t0073a0002c0014t0001a0002c0019t0012others(4): Show | a0001c0071t0073g0251 a0002c0014t0001g0245 a0002c0019t0012g0129 others(7): Show |
10 | 334 | 0.0299 | 8 | c.299 others(25): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 16/19 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126028707 | A | AATTTATT others(1): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02630.hp1 HG03139.hp1 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0021a0002c0003a0003c0005others(3): Show | a0001c0021t0064a0002c0003t0001a0003c0005t0002others(5): Show | a0001c0021t0064g0094 a0002c0003t0001g0020 a0003c0005t0002g0060 others(6): Show |
9 | 334 | 0.0270 | 8 | c.-61 others(25): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126050495 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02970.hp2 NA18990.hp1 others(1): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0031a0004c0006others(1): Show | a0001c0001t0001a0002c0031t0094a0004c0006t0004others(1): Show | a0001c0001t0001g0244 a0002c0031t0094g0310 a0004c0006t0004g0187 others(1): Show |
4 | 334 | 0.0120 | 8 | c.-62 others(27): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126063171 | G | GAGCATAG others(1): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01243.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0019a0001c0001t0020others(8): Show | a0001c0001t0001g0057 a0001c0001t0001g0118 a0001c0001t0001g0242 others(12): Show |
15 | 334 | 0.0449 | 8 | c.-66 others(17): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 306 | chr11 | TogoVar | |||||||
CDPF1_chr22_46239013_46255293 | 46242731 | G | GCACACAC others(1): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02280.hp1 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0004 | a0002c0002t0003g0012 a0002c0002t0004g0002 |
12 | 280 | 0.0429 | 8 | c.*23 others(19): Show |
CDPF1 | ENSG00000205643.11 | transcript | ENST00000314567.8 | protein_coding | 1281 | chr22 | TogoVar | |||||||
CDR2L_chr17_74982632_75010800 | 74989410 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp1 others(143): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(13): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(99): Show |
146 | 352 | 0.4148 | 8 | c.79+ others(23): Show |
CDR2L | ENSG00000109089.7 | transcript | ENST00000337231.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CDR2L_chr17_74982632_75010800 | 74999288 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00735.hp2 others(17): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0022 a0001c0001t0001g0037 a0001c0001t0001g0040 others(12): Show |
20 | 352 | 0.0568 | 8 | c.80- others(21): Show |
CDR2L | ENSG00000109089.7 | transcript | ENST00000337231.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CDR2L_chr17_74982632_75010800 | 74999325 | C | CACACAAA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG03710.hp2 NA18944.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0186 others(3): Show |
8 | 352 | 0.0227 | 8 | c.80- others(21): Show |
CDR2L | ENSG00000109089.7 | transcript | ENST00000337231.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CDR2L_chr17_74982632_75010800 | 74999325 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00558.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0027 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0024 others(9): Show |
19 | 352 | 0.0540 | 8 | c.80- others(21): Show |
CDR2L | ENSG00000109089.7 | transcript | ENST00000337231.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CDRT4_chr17_15431015_15472621 | 15444714 | C | CAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG02109.hp1 HG02895.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0019a0002c0002t0002a0002c0002t0014 | a0001c0001t0019g0164 a0002c0002t0002g0040 a0002c0002t0002g0209 others(2): Show |
6 | 430 | 0.0140 | 8 | c.-47 others(25): Show |
CDRT4 | ENSG00000239704.12 | transcript | ENST00000619038.5 | protein_coding | 2/3 | chr17 | TogoVar | |||||||
CDRT4_chr17_15431015_15472621 | 15451471 | C | CCCATGGC others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp1 others(182): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0045 others(133): Show |
185 | 430 | 0.4302 | 8 | c.-48 others(25): Show |
CDRT4 | ENSG00000239704.12 | transcript | ENST00000619038.5 | protein_coding | 2/3 | chr17 | TogoVar | |||||||
CDRT4_chr17_15431015_15472621 | 15456986 | G | GATGGGAT others(1): Show |
intron_variant | MODIFIER | NA18942.hp1 NA18946.hp1 NA18966.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 6 | 430 | 0.0140 | 8 | c.-12 others(27): Show |
CDRT4 | ENSG00000239704.12 | transcript | ENST00000619038.5 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
CDS1_chr4_84578127_84656334 | 84619044 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG01993.hp2 others(21): Show |
a0001a0010a0011 | a0001c0001a0010c0005a0011c0011 | a0001c0001t0002a0001c0001t0015a0010c0005t0002others(1): Show | a0001c0001t0002g0084 a0001c0001t0002g0268 a0001c0001t0002g0270 others(21): Show |
24 | 384 | 0.0625 | 8 | c.441 others(23): Show |
CDS1 | ENSG00000163624.6 | transcript | ENST00000295887.6 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CDS1_chr4_84578127_84656334 | 84635574 | T | TCTGCCTG others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01109.hp2 HG01243.hp1 others(15): Show |
a0001a0003a0006 | a0001c0001a0003c0009a0006c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0043 others(15): Show |
18 | 384 | 0.0469 | 8 | c.810 others(23): Show |
CDS1 | ENSG00000163624.6 | transcript | ENST00000295887.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CDS1_chr4_84578127_84656334 | 84635625 | G | GCCTGCCT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01169.hp2 HG01952.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013 | a0001c0001t0001g0031 a0001c0001t0001g0047 a0001c0001t0001g0112 others(15): Show |
18 | 384 | 0.0469 | 8 | c.810 others(23): Show |
CDS1 | ENSG00000163624.6 | transcript | ENST00000295887.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CDS1_chr4_84578127_84656334 | 84635625 | G | GCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG02083.hp2 others(11): Show |
a0001a0009 | a0001c0001a0009c0004 | a0001c0001t0002a0009c0004t0002 | a0001c0001t0002g0004 a0001c0001t0002g0084 a0001c0001t0002g0272 others(10): Show |
14 | 384 | 0.0365 | 8 | c.810 others(23): Show |
CDS1 | ENSG00000163624.6 | transcript | ENST00000295887.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CDS1_chr4_84578127_84656334 | 84635688 | T | TTCCCTCC others(1): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03130.hp1 NA18961.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0196 others(2): Show |
5 | 384 | 0.0130 | 8 | c.810 others(23): Show |
CDS1 | ENSG00000163624.6 | transcript | ENST00000295887.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CDS2_chr20_5122008_5202887 | 5124836 | C | CATTTTAG others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00738.hp1 others(47): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0038 others(47): Show |
50 | 348 | 0.1437 | 8 | c.-22 others(19): Show |
CDS2 | ENSG00000101290.14 | transcript | ENST00000460006.6 | protein_coding | 2171 | chr20 | TogoVar | |||||||
CDS2_chr20_5122008_5202887 | 5188055 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01496.hp1 HG02615.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0019a0001c0001t0034others(6): Show | a0001c0001t0002g0222 a0001c0001t0019g0011 a0001c0001t0019g0290 others(9): Show |
13 | 348 | 0.0374 | 8 | c.982 others(23): Show |
CDS2 | ENSG00000101290.14 | transcript | ENST00000460006.6 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDS2_chr20_5122008_5202887 | 5202781 | G | GACACACA others(1): Show |
downstream_gene_variant | MODIFIER | NA18942.hp1 NA18945.hp1 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0081 | a0001c0001t0014g0129 a0001c0001t0014g0130 a0001c0001t0081g0095 |
3 | 348 | 0.0086 | 8 | c.*12 others(21): Show |
CDS2 | ENSG00000101290.14 | transcript | ENST00000460006.6 | protein_coding | 4895 | chr20 | TogoVar | |||||||
CDV3_chr3_133568686_133595261 | 133576841 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | NA18974.hp2 NA18990.hp1 NA18998.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0080 a0001c0001t0002g0017 a0001c0001t0002g0064 others(4): Show |
8 | 386 | 0.0207 | 8 | c.317 others(25): Show |
CDV3 | ENSG00000091527.17 | transcript | ENST00000264993.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CDV3_chr3_133568686_133595261 | 133594433 | T | TAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00544.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 others(9): Show |
24 | 386 | 0.0622 | 8 | c.*63 others(19): Show |
CDV3 | ENSG00000091527.17 | transcript | ENST00000264993.8 | protein_coding | 4173 | chr3 | TogoVar | |||||||
CDYL2_chr16_80592907_80809598 | 80672352 | C | CACAGAGA others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02273.hp1 HG02683.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0040a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0040g0044 a0001c0002t0001g0177 a0001c0002t0002g0089 others(3): Show |
6 | 258 | 0.0233 | 8 | c.616 others(27): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 2/6 | chr16 | TogoVar | |||||||
CDYL2_chr16_80592907_80809598 | 80712189 | G | GTACATAT others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03041.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0040a0001c0003t0002a0001c0004t0011 | a0001c0001t0040g0044 a0001c0003t0002g0043 a0001c0003t0002g0216 others(1): Show |
4 | 258 | 0.0155 | 8 | c.25- others(25): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
CDYL2_chr16_80592907_80809598 | 80717004 | T | TGATGGAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(28): Show | a0001c0001t0001g0126 a0001c0001t0002g0057 a0001c0001t0002g0062 others(39): Show |
43 | 258 | 0.1667 | 8 | c.25- others(25): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
CDYL2_chr16_80592907_80809598 | 80717149 | A | AGATGGAT others(1): Show |
intron_variant | MODIFIER | HG03516.hp1 NA18974.hp1 NA18988.hp2 others(1): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0005a0001c0006t0008 | a0001c0002t0005g0021 a0001c0002t0005g0022 a0001c0006t0008g0076 others(1): Show |
4 | 258 | 0.0155 | 8 | c.25- others(25): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
CDYL2_chr16_80592907_80809598 | 80742461 | C | CATGGATG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(106): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0033 others(106): Show |
109 | 258 | 0.4225 | 8 | c.25- others(25): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
CDYL2_chr16_80592907_80809598 | 80759102 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00735.hp2 others(37): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0088 others(36): Show |
40 | 258 | 0.1550 | 8 | c.24+ others(25): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 1/6 | chr16 | TogoVar |