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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLYBL_chr13_99601690_99897570 | 99794581 | T | TTTATTAT others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01081.hp1 HG01169.hp2 others(37): Show |
a0001a0002a0004 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0009t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0012a0001c0001t0001g0013others(37): Show | 40 | 218 | 0.1835 | 15 | c.249 others(34): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99818446 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0191 | 1 | 218 | 0.0046 | 15 | c.250 others(34): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99819465 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 218 | 0.0046 | 15 | c.250 others(34): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99833029 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 218 | 0.0046 | 15 | c.250 others(34): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99833030 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142a0001c0001t0001g0146 | 2 | 218 | 0.0092 | 15 | c.250 others(34): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99833030 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0189 | 1 | 218 | 0.0046 | 15 | c.250 others(34): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CMAS_chr12_22041218_22070668 | 22060333 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00438.hp2 NA18978.hp1 NA19083.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033a0001c0001t0002g0059 | 3 | 450 | 0.0067 | 15 | c.694 others(30): Show |
CMAS | ENSG00000111726.13 | transcript | ENST00000229329.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CMC1_chr3_28236619_28330142 | 28305779 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0020 | a0001c0001t0007g0021a0001c0001t0020g0322 | 2 | 338 | 0.0059 | 15 | c.110 others(34): Show |
CMC1 | ENSG00000187118.14 | transcript | ENST00000466830.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMC2_chr16_80961448_81011885 | 80965190 | A | ATATATAT others(8): Show |
downstream_gene_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0262 | 1 | 408 | 0.0025 | 15 | c.*10 others(28): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1257 | chr16 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80965192 | A | ATATATAT others(8): Show |
downstream_gene_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0185 | 1 | 408 | 0.0025 | 15 | c.*10 others(28): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1255 | chr16 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80965241 | A | ATGTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 408 | 0.0025 | 15 | c.*10 others(28): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1206 | chr16 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80965245 | G | GTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0017a0001c0001t0018others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0039others(16): Show | 24 | 408 | 0.0588 | 15 | c.*10 others(28): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1202 | chr16 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80971562 | T | TATATATA others(8): Show |
3_prime_UTR_variant | MODIFIER | HG01081.hp1 HG01358.hp2 HG01928.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0129a0001c0001t0131others(5): Show | a0001c0001t0019g0036a0001c0001t0019g0188a0001c0001t0019g0215others(7): Show | 11 | 408 | 0.0270 | 15 | c.*45 others(26): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 4/4 | 4530 | chr16 | TogoVar | |||||
CMC2_chr16_80961448_81011885 | 81008888 | A | ACCTGGGT others(8): Show |
upstream_gene_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0002 | a0002c0002t0031 | a0002c0002t0031g0059 | 1 | 408 | 0.0025 | 15 | c.-21 others(26): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 2004 | chr16 | TogoVar | ||||||
CMC4_chrX_155056622_155076136 | 155075292 | C | CCCTGAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 2 | 292 | 0.0069 | 15 | c.-46 others(26): Show |
CMC4 | ENSG00000182712.16 | transcript | ENST00000369484.8 | protein_coding | 4157 | chrX | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81520569 | G | GAGAGAGA others(8): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02056.hp2 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0032 | a0001c0001t0018g0017a0001c0001t0032g0156 | 2 | 268 | 0.0075 | 15 | c.300 others(34): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | chr16 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81557340 | G | GAATTCAC others(8): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01106.hp1 HG01168.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0051others(21): Show | 24 | 268 | 0.0896 | 15 | c.301 others(34): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CMIP_chr16_81439808_81716762 | 81577103 | T | TATCACCA others(8): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG01168.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0048a0001c0001t0001g0118a0001c0001t0001g0123others(19): Show | 22 | 268 | 0.0821 | 15 | c.301 others(34): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CMIP_chr16_81439808_81716762 | 81577257 | T | TATCACCA others(8): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG01168.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0048a0001c0001t0001g0118a0001c0001t0001g0123others(19): Show | 22 | 268 | 0.0821 | 15 | c.301 others(34): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CMIP_chr16_81439808_81716762 | 81654231 | T | TTTATTAT others(8): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0190 | 1 | 268 | 0.0037 | 15 | c.639 others(32): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CMIP_chr16_81439808_81716762 | 81707259 | T | TAATTGGA others(8): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0152 | 1 | 268 | 0.0037 | 15 | c.226 others(32): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CMKLR1_chr12_108283046_108344311 | 108324833 | T | TGTGCTGG others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(145): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0004c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0013others(138): Show | 148 | 400 | 0.3700 | 15 | c.-74 others(32): Show |
CMKLR1 | ENSG00000174600.14 | transcript | ENST00000550402.6 | protein_coding | 2/3 | chr12 | TogoVar | ||||||
CMKLR2_chr2_206170316_206218371 | 206180734 | C | CATTATTA others(8): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00642.hp2 others(36): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0003t0001others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0051a0001c0001t0001g0066others(35): Show | 39 | 322 | 0.1211 | 15 | c.-28 others(32): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
CMKLR2_chr2_206170316_206218371 | 206180756 | A | ATTATTAT others(8): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 322 | 0.0031 | 15 | c.-28 others(32): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
CMKLR2_chr2_206170316_206218371 | 206214165 | A | ATTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0233 | 1 | 322 | 0.0031 | 15 | c.-90 others(24): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 795 | chr2 | TogoVar | ||||||
CMPK2_chr2_6843316_6870907 | 6849404 | A | AGATGTGG others(8): Show |
3_prime_UTR_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0124 | 1 | 392 | 0.0026 | 15 | c.*43 others(24): Show |
CMPK2 | ENSG00000134326.12 | transcript | ENST00000256722.10 | protein_coding | 5/5 | 445 | chr2 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 99957693 | C | CTTTCTTT others(8): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0056 | 1 | 232 | 0.0043 | 15 | c.64+ others(34): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 99957693 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02129.hp2 HG02486.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0012 | a0001c0001t0001g0205a0001c0001t0004g0017a0001c0001t0004g0019others(2): Show | 5 | 232 | 0.0216 | 15 | c.64+ others(34): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 100054490 | T | TTGTTATG others(8): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01978.hp1 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0214a0001c0001t0001g0216a0001c0001t0002g0155 | 3 | 232 | 0.0129 | 15 | c.65- others(32): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 100074675 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01516.hp1 HG02257.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0014a0001c0001t0010g0056 | 2 | 232 | 0.0086 | 15 | c.65- others(32): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTM2_chr16_66574463_66593275 | 66589828 | T | TAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG01256.hp1 HG01496.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 7 | 410 | 0.0171 | 15 | c.*17 others(26): Show |
CMTM2 | ENSG00000140932.10 | transcript | ENST00000268595.3 | protein_coding | 1554 | chr16 | TogoVar | ||||||
CMTM6_chr3_32476312_32507852 | 32477706 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG01167.hp1 HG01952.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0042a0001c0001t0001g0104a0001c0001t0003g0003others(10): Show | 13 | 384 | 0.0339 | 15 | c.*62 others(26): Show |
CMTM6 | ENSG00000091317.8 | transcript | ENST00000205636.4 | protein_coding | 3605 | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32295455 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 | 1 | 344 | 0.0029 | 15 | c.147 others(34): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTM8_chr3_32233680_32375321 | 32319074 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165a0001c0001t0001g0180 | 2 | 344 | 0.0058 | 15 | c.148 others(34): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTM8_chr3_32233680_32375321 | 32319074 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 344 | 0.0029 | 15 | c.148 others(34): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTM8_chr3_32233680_32375321 | 32319074 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG02280.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080a0001c0001t0001g0086a0001c0001t0001g0087others(3): Show | 6 | 344 | 0.0174 | 15 | c.148 others(34): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTM8_chr3_32233680_32375321 | 32319074 | A | ATATATTT others(8): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03098.hp1 HG06807.hp2 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0071a0001c0001t0001g0096a0001c0001t0001g0103others(7): Show | 10 | 344 | 0.0291 | 15 | c.148 others(34): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTM8_chr3_32233680_32375321 | 32319074 | A | ATATTTTT others(8): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0331 | 1 | 344 | 0.0029 | 15 | c.148 others(34): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTM8_chr3_32233680_32375321 | 32319075 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 344 | 0.0029 | 15 | c.148 others(34): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32347297 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02486.hp1 NA18978.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0001c0001t0002a0003c0002t0001 | a0001c0001t0001g0091a0001c0001t0001g0298a0001c0001t0002g0275others(1): Show | 4 | 344 | 0.0116 | 15 | c.148 others(34): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTM8_chr3_32233680_32375321 | 32361286 | G | GTTTGTTT others(8): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01081.hp1 HG01256.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0016a0001c0001t0001g0032a0001c0001t0001g0047others(16): Show | 19 | 344 | 0.0552 | 15 | c.321 others(32): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTR1_chr6_37428221_37486508 | 37449271 | T | TTGTTATG others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp2 others(72): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0019a0001c0001t0001g0061others(57): Show | 75 | 358 | 0.2095 | 15 | c.445 others(30): Show |
CMTR1 | ENSG00000137200.13 | transcript | ENST00000373451.9 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CMYA5_chr5_79684836_79805222 | 79688942 | C | CAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG02257.hp2 HG02723.hp2 others(4): Show |
a0003a0006a0007others(3): Show | a0003c0003a0003c0069a0006c0004others(4): Show | a0003c0003t0009a0003c0069t0002a0006c0004t0002others(4): Show | a0003c0003t0009g0313a0003c0069t0002g0310a0006c0004t0002g0199others(4): Show | 7 | 358 | 0.0196 | 15 | c.-96 others(24): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 893 | chr5 | TogoVar | ||||||
CMYA5_chr5_79684836_79805222 | 79726909 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0322 | 1 | 358 | 0.0028 | 15 | c.150 others(32): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CMYA5_chr5_79684836_79805222 | 79742048 | C | CTCTTCTT others(8): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0039 | a0039c0030 | a0039c0030t0002 | a0039c0030t0002g0314 | 1 | 358 | 0.0028 | 15 | c.106 others(36): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 86870189 | C | CCTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02818.hp2 HG06807.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0023 | 3 | 152 | 0.0197 | 15 | c.88+ others(30): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 86870189 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(42): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0001a0001c0006t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0035others(42): Show | 45 | 152 | 0.2961 | 15 | c.88+ others(30): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 86870204 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 152 | 0.0066 | 15 | c.88+ others(30): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87129069 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01106.hp2 HG01515.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0043a0001c0001t0001g0051others(7): Show | 10 | 152 | 0.0658 | 15 | c.432 others(34): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87241268 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03225.hp1 |
a0001a0002 | a0001c0008a0002c0002 | a0001c0008t0001a0002c0002t0001 | a0001c0008t0001g0147a0002c0002t0001g0090 | 2 | 152 | 0.0132 | 15 | c.771 others(32): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |