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 | 18626723 | T | TCTCTCTC others(9): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0150 | 1 | 192 | 0.0052 | 16 | c.249 others(35): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CDKN1A_chr6_36673714_36692332 | 36680340 | G | GTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0378 | 1 | 454 | 0.0022 | 16 | c.-6+ others(31): 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(9): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0006 | a0006c0007 | a0006c0007t0002 | a0006c0007t0002g0140 | 1 | 454 | 0.0022 | 16 | c.-6+ others(31): 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(9): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01255.hp2 HG02135.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0177 a0001c0001t0001g0196 others(3): Show |
7 | 454 | 0.0154 | 16 | c.-6+ others(31): Show |
CDKN1A | ENSG00000124762.14 | transcript | ENST00000244741.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKN1A_chr6_36673714_36692332 | 36681269 | T | TTTCTCTC others(9): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00597.hp1 HG00609.hp2 others(43): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0021 a0001c0001t0001g0058 a0001c0001t0001g0111 others(37): Show |
46 | 454 | 0.1013 | 16 | c.-6+ others(31): Show |
CDKN1A | ENSG00000124762.14 | transcript | ENST00000244741.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKN1A_chr6_36673714_36692332 | 36681334 | T | TTCTTTCT others(9): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307 | 1 | 454 | 0.0022 | 16 | c.-6+ others(31): 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(9): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 454 | 0.0022 | 16 | c.-6+ others(31): Show |
CDKN1A | ENSG00000124762.14 | transcript | ENST00000244741.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKN1A_chr6_36673714_36692332 | 36681411 | T | TTCTTTCT others(9): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02148.hp2 HG02976.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0116 a0001c0001t0001g0248 a0001c0001t0001g0254 others(6): Show |
9 | 454 | 0.0198 | 16 | c.-6+ others(31): 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(9): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 380 | 0.0026 | 16 | c.339 others(33): Show |
CDKN2AIPNL | ENSG00000237190.4 | transcript | ENST00000458198.3 | protein_coding | 2/2 | chr5 | TogoVar | |||||||
CDKN2A_chr9_21962752_21979857 | 21971575 | A | ATTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02135.hp1 HG02622.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0002g0024 others(3): Show |
8 | 416 | 0.0192 | 16 | c.151 others(31): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000304494.10 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CDKN2A_chr9_21962752_21999392 | 21971575 | A | ATTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02135.hp1 HG02622.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0184 a0001c0001t0001g0376 a0001c0001t0002g0222 others(5): Show |
8 | 404 | 0.0198 | 16 | c.194 others(31): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CDKN2A_chr9_21962752_21999392 | 21981126 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0356 a0001c0001t0002g0357 |
2 | 404 | 0.0050 | 16 | c.194 others(33): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CDKN2A_chr9_21962752_21999392 | 21981128 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 404 | 0.0025 | 16 | c.194 others(33): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CDKN2A_chr9_21962752_21999392 | 21981175 | C | CGTATATA others(9): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0312 | 1 | 404 | 0.0025 | 16 | c.194 others(33): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CDKN2A_chr9_21962752_21999392 | 21987396 | A | AACACACA others(9): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0374 | 1 | 404 | 0.0025 | 16 | c.193 others(33): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CDKN2A_chr9_21962752_21999392 | 21990611 | T | TGAGAGAG others(9): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01346.hp1 HG01978.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012 | a0001c0001t0001g0015 a0001c0001t0001g0067 a0001c0001t0001g0068 others(15): Show |
18 | 404 | 0.0446 | 16 | c.193 others(33): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CDKN2D_chr19_10561460_10573979 | 10570547 | C | CAAAAAAA others(9): Show |
upstream_gene_variant | MODIFIER | HG02155.hp2 HG02809.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 410 | 0.0098 | 16 | c.-18 others(27): Show |
CDKN2D | ENSG00000129355.7 | transcript | ENST00000393599.3 | protein_coding | 1569 | chr19 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 125958563 | A | ATGTGTGT others(9): Show |
3_prime_UTR_variant | MODIFIER | NA18951.hp2 NA18953.hp1 |
a0001a0010 | a0001c0001a0010c0015 | a0001c0001t0029a0010c0015t0029 | a0001c0001t0029g0044 a0010c0015t0029g0074 |
2 | 334 | 0.0060 | 16 | c.*23 others(27): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 20/20 | 2378 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 125958565 | A | ATATATAT others(9): Show |
3_prime_UTR_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0002 | a0002c0002t0087 | a0002c0002t0087g0298 | 1 | 334 | 0.0030 | 16 | c.*23 others(27): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 20/20 | 2376 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 125958565 | A | ATATATGT others(9): Show |
3_prime_UTR_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0012 | a0002c0012t0077 | a0002c0012t0077g0272 | 1 | 334 | 0.0030 | 16 | c.*23 others(27): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 20/20 | 2376 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 125958565 | A | ATATGTGT others(9): Show |
3_prime_UTR_variant | MODIFIER | HG02723.hp2 HG02809.hp1 HG03486.hp1 |
a0001a0002a0021 | a0001c0009a0002c0012a0021c0055 | a0001c0009t0075a0002c0012t0092a0021c0055t0041 | a0001c0009t0075g0278 a0002c0012t0092g0320 a0021c0055t0041g0189 |
3 | 334 | 0.0090 | 16 | c.*23 others(27): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 20/20 | 2376 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 125971382 | C | CTAAATAA others(9): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01069.hp1 HG01433.hp1 others(9): Show |
a0003a0005a0006others(3): Show | a0003c0005a0005c0030a0005c0056others(6): Show | a0003c0005t0002a0005c0030t0096a0005c0056t0025others(6): Show | a0003c0005t0002g0060 a0003c0005t0002g0061 a0003c0005t0002g0099 others(9): Show |
12 | 334 | 0.0359 | 16 | c.335 others(35): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 18/19 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 125973018 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01099.hp1 HG01167.hp2 others(1): Show |
a0002a0004a0006 | a0002c0002a0004c0026a0006c0070 | a0002c0002t0003a0002c0002t0091a0004c0026t0022others(1): Show | a0002c0002t0003g0239 a0002c0002t0091g0299 a0004c0026t0022g0195 others(1): Show |
4 | 334 | 0.0120 | 16 | c.335 others(35): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 18/19 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 125974402 | G | GAGGGAGG others(9): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00741.hp2 others(50): Show |
a0001a0002a0003others(7): Show | a0001c0033a0002c0014a0002c0048others(13): Show | a0001c0033t0004a0001c0033t0043a0002c0014t0056others(28): Show | a0001c0033t0004g0088 a0001c0033t0043g0250 a0002c0014t0056g0249 others(49): Show |
53 | 334 | 0.1587 | 16 | c.335 others(35): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 18/19 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126050495 | A | AACACACA others(9): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02896.hp1 |
a0021a0022 | a0021c0055a0022c0057 | a0021c0055t0041a0022c0057t0103 | a0021c0055t0041g0189 a0022c0057t0103g0321 |
2 | 334 | 0.0060 | 16 | c.-62 others(35): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126063561 | T | TTCCTTAG others(9): Show |
upstream_gene_variant | MODIFIER | HG01123.hp2 | a0009 | a0009c0016 | a0009c0016t0034 | a0009c0016t0034g0275 | 1 | 334 | 0.0030 | 16 | c.-10 others(27): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 696 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126063658 | C | CGTGGTGT others(9): Show |
upstream_gene_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 334 | 0.0030 | 16 | c.-11 others(27): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 793 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126063837 | G | GCATTCAA others(9): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 | a0024 | a0024c0036 | a0024c0036t0026 | a0024c0036t0026g0145 | 1 | 334 | 0.0030 | 16 | c.-13 others(27): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 972 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126064414 | C | CTTGGCCT others(9): Show |
upstream_gene_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0306 | 1 | 334 | 0.0030 | 16 | c.-18 others(27): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 1549 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126064686 | A | ACATAATG others(9): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 | a0014 | a0014c0032 | a0014c0032t0036 | a0014c0032t0036g0323 | 1 | 334 | 0.0030 | 16 | c.-21 others(27): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 1821 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126064867 | A | AATCATTC others(9): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 | a0008 | a0008c0008 | a0008c0008t0007 | a0008c0008t0007g0136 | 1 | 334 | 0.0030 | 16 | c.-23 others(27): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2002 | chr11 | TogoVar | |||||||
CDPF1_chr22_46239013_46255293 | 46242731 | G | GCGCGCGC others(9): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 | a0005 | a0005c0005 | a0005c0005t0008 | a0005c0005t0008g0020 | 1 | 280 | 0.0036 | 16 | c.*23 others(27): Show |
CDPF1 | ENSG00000205643.11 | transcript | ENST00000314567.8 | protein_coding | 1281 | chr22 | TogoVar | |||||||
CDR2L_chr17_74982632_75010800 | 74989410 | A | AACACACA others(9): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02300.hp1 HG02572.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0003t0004others(2): Show | a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0002t0002g0108 others(3): Show |
6 | 352 | 0.0171 | 16 | c.79+ others(31): 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(9): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 352 | 0.0028 | 16 | c.80- others(29): 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(9): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 352 | 0.0028 | 16 | c.80- others(29): 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(9): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 352 | 0.0028 | 16 | c.80- others(29): Show |
CDR2L | ENSG00000109089.7 | transcript | ENST00000337231.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CDRT4_chr17_15431015_15472621 | 15435748 | C | CAAAAAAA others(9): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG01106.hp1 HG01934.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0015 | a0001c0001t0001g0017 a0001c0001t0001g0130 a0001c0001t0001g0243 others(3): Show |
8 | 430 | 0.0186 | 16 | c.*20 others(27): Show |
CDRT4 | ENSG00000239704.12 | transcript | ENST00000619038.5 | protein_coding | 266 | chr17 | TogoVar | |||||||
CDRT4_chr17_15431015_15472621 | 15444714 | C | CAGAGAGA others(9): Show |
intron_variant | MODIFIER | HG02698.hp1 HG03041.hp1 HG03516.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005a0002c0002t0020others(1): Show | a0002c0002t0002g0165 a0002c0002t0002g0182 a0002c0002t0002g0192 others(3): Show |
6 | 430 | 0.0140 | 16 | c.-47 others(33): Show |
CDRT4 | ENSG00000239704.12 | transcript | ENST00000619038.5 | protein_coding | 2/3 | chr17 | TogoVar | |||||||
CDRT4_chr17_15431015_15472621 | 15456563 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01934.hp2 HG02109.hp1 others(2): Show |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0014a0005c0005t0007 | a0002c0002t0014g0124 a0005c0005t0007g0020 |
5 | 430 | 0.0116 | 16 | c.-12 others(35): Show |
CDRT4 | ENSG00000239704.12 | transcript | ENST00000619038.5 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
CDS1_chr4_84578127_84656334 | 84619044 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0208 | 1 | 384 | 0.0026 | 16 | c.441 others(31): 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(9): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01167.hp1 HG01261.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0018 a0001c0001t0001g0061 a0001c0001t0001g0098 others(4): Show |
7 | 384 | 0.0182 | 16 | c.810 others(31): 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(9): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG02148.hp2 others(9): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(3): Show | a0001c0001t0001g0024 a0001c0001t0001g0115 a0001c0001t0001g0218 others(9): Show |
12 | 384 | 0.0313 | 16 | c.810 others(31): 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(9): Show |
intron_variant | MODIFIER | HG00423.hp1 HG03453.hp2 NA18949.hp1 others(8): Show |
a0001a0008 | a0001c0001a0008c0003 | a0001c0001t0001a0001c0001t0002a0008c0003t0001 | a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0027 others(8): Show |
11 | 384 | 0.0287 | 16 | c.810 others(31): Show |
CDS1 | ENSG00000163624.6 | transcript | ENST00000295887.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CDS1_chr4_84578127_84656334 | 84635688 | T | TTCCTTCC others(9): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02572.hp1 NA18965.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0010a0002c0002t0006 | a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0148 others(4): Show |
7 | 384 | 0.0182 | 16 | c.810 others(31): Show |
CDS1 | ENSG00000163624.6 | transcript | ENST00000295887.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CDS1_chr4_84578127_84656334 | 84635696 | T | TTCCCTCC others(9): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02280.hp2 HG02486.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0030 | a0001c0001t0001g0098 a0001c0001t0004g0259 a0001c0001t0004g0260 others(8): Show |
11 | 384 | 0.0287 | 16 | c.810 others(31): Show |
CDS1 | ENSG00000163624.6 | transcript | ENST00000295887.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CDS2_chr20_5122008_5202887 | 5188055 | C | CGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0292 | 1 | 348 | 0.0029 | 16 | c.982 others(32): Show |
CDS2 | ENSG00000101290.14 | transcript | ENST00000460006.6 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDV3_chr3_133568686_133595261 | 133576841 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01168.hp2 HG01169.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0016others(1): Show | a0001c0001t0001g0087 a0001c0001t0006g0012 a0001c0001t0016g0086 others(1): Show |
9 | 386 | 0.0233 | 16 | c.317 others(33): 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(9): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG00733.hp1 HG01192.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0046 others(2): Show |
8 | 386 | 0.0207 | 16 | c.*63 others(27): Show |
CDV3 | ENSG00000091527.17 | transcript | ENST00000264993.8 | protein_coding | 4173 | chr3 | TogoVar | |||||||
CDV3_chr3_133568686_133595261 | 133594443 | A | AAAAAAAA others(9): Show |
downstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 386 | 0.0026 | 16 | c.*63 others(27): Show |
CDV3 | ENSG00000091527.17 | transcript | ENST00000264993.8 | protein_coding | 4183 | chr3 | TogoVar | |||||||
CDYL2_chr16_80592907_80809598 | 80672352 | C | CACACACA others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0212 | 1 | 258 | 0.0039 | 16 | c.616 others(35): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 2/6 | chr16 | TogoVar |