| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0041others(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 | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0012others(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 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0034others(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 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0013others(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 | a0001c0001t0001g0113a0001c0001t0001g0268a0001c0001t0001g0269others(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 | a0001c0001t0001g0009a0001c0001t0001g0179a0001c0001t0001g0277others(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 | a0001c0001t0001g0024a0001c0001t0001g0113a0001c0001t0001g0211others(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 | a0001c0001t0001g0123a0001c0001t0001g0195a0001c0001t0002g0282others(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 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0016others(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 | a0001c0001t0006g0005a0001c0001t0030g0070a0001c0001t0031g0042others(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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006 | 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 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(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 | a0001c0004t0032g0050a0001c0004t0063g0185a0031c0066t0032g0026 | 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 | a0002c0002t0030g0018a0002c0002t0030g0023a0002c0002t0033g0268others(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 |
a0012a0014a0015others(1): Show | a0012c0059a0014c0032a0015c0041others(2): Show | a0012c0059t0108a0014c0032t0036a0014c0032t0088others(3): Show | a0012c0059t0108g0327a0014c0032t0036g0323a0014c0032t0088g0271others(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 | a0001c0004t0003g0048a0001c0004t0003g0062a0001c0004t0003g0067others(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 |
a0001a0002a0007others(1): Show | a0001c0071a0002c0014a0002c0019others(2): Show | a0001c0071t0073a0002c0014t0001a0002c0019t0012others(4): Show | a0001c0071t0073g0251a0002c0014t0001g0245a0002c0019t0012g0129others(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 | a0001c0021a0002c0003a0003c0006others(3): Show | a0001c0021t0064a0002c0003t0001a0003c0006t0004others(5): Show | a0001c0021t0064g0094a0002c0003t0001g0020a0003c0006t0004g0178others(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 |
a0001a0002a0003others(1): Show | a0001c0001a0002c0031a0003c0006others(1): Show | a0001c0001t0001a0002c0031t0094a0003c0006t0004others(1): Show | a0001c0001t0001g0244a0002c0031t0094g0310a0003c0006t0004g0187others(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 |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0019a0001c0001t0020others(8): Show | a0001c0001t0001g0057a0001c0001t0001g0118a0001c0001t0001g0242others(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 | a0002c0002t0003g0012a0002c0002t0004g0002 | 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 |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(13): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(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 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0022a0001c0001t0001g0037a0001c0001t0001g0040others(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 | a0001c0001t0001g0044a0001c0001t0001g0050a0001c0001t0001g0186others(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 | a0001c0001t0001g0015a0001c0001t0001g0023a0001c0001t0001g0024others(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 | a0001c0001t0019g0164a0002c0002t0002g0040a0002c0002t0002g0209others(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 | a0001c0001t0001g0014a0001c0001t0001g0019a0001c0001t0001g0045others(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 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0084a0001c0001t0002g0268a0001c0001t0002g0270others(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 |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0026a0001c0001t0001g0034a0001c0001t0001g0043others(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 | a0001c0001t0001g0031a0001c0001t0001g0047a0001c0001t0001g0112others(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 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004a0001c0001t0002g0084a0001c0001t0002g0272others(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 | a0001c0001t0003g0049a0001c0001t0003g0050a0001c0001t0003g0196others(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 | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0038others(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 | a0001c0001t0002g0222a0001c0001t0019g0011a0001c0001t0019g0290others(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 | a0001c0001t0014g0129a0001c0001t0014g0130a0001c0001t0081g0095 | 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 | a0001c0001t0001g0080a0001c0001t0002g0017a0001c0001t0002g0064others(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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0013others(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 | a0001c0001t0040g0044a0001c0002t0001g0177a0001c0002t0002g0089others(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 | a0001c0001t0040g0044a0001c0003t0002g0043a0001c0003t0002g0216others(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 | a0001c0001t0001g0126a0001c0001t0002g0057a0001c0001t0002g0062others(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 | a0001c0002t0005g0021a0001c0002t0005g0022a0001c0006t0008g0076others(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 | a0001c0001t0001g0006a0001c0001t0001g0023a0001c0001t0001g0033others(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 | a0001c0001t0001g0055a0001c0001t0001g0064a0001c0001t0001g0088others(36): Show | 40 | 258 | 0.1550 | 8 | c.24+ others(25): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
| CDYL_chr6_4771404_4960544 | 4819116 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02257.hp1 HG02273.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0046a0001c0001t0001g0060a0001c0001t0001g0078others(12): Show | 15 | 250 | 0.0600 | 8 | c.24+ others(25): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CDYL_chr6_4771404_4960544 | 4821260 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02698.hp1 NA18948.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0073a0001c0001t0001g0097a0001c0001t0001g0168others(5): Show | 8 | 250 | 0.0320 | 8 | c.24+ others(25): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CDYL_chr6_4771404_4960544 | 4894937 | A | ATATGTGT others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01243.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0078a0001c0001t0001g0135a0001c0001t0002g0006 | 3 | 250 | 0.0120 | 8 | c.691 others(25): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CDYL_chr6_4771404_4960544 | 4895227 | A | ATGTGTAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG01496.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0185a0001c0001t0001g0249a0001c0001t0002g0074others(3): Show | 6 | 250 | 0.0240 | 8 | c.691 others(25): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CDYL_chr6_4771404_4960544 | 4897790 | G | GTTTTGTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01069.hp2 HG01071.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0073a0001c0001t0001g0082a0001c0001t0001g0087others(30): Show | 33 | 250 | 0.1320 | 8 | c.691 others(25): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CDYL_chr6_4771404_4960544 | 4900779 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01175.hp1 HG01975.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0011a0001c0001t0001g0089a0001c0001t0001g0139others(4): Show | 7 | 250 | 0.0280 | 8 | c.691 others(25): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |