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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CPNE7_chr16_89570758_89602246 | 89587781 | G | GCCCCCGT others(4): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 299 | 0.0033 | 11 | c.927 others(26): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587785 | C | CCGTGTCA others(4): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01257.hp1 HG01952.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0002others(5): Show | a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0095 others(17): Show |
20 | 287 | 0.0697 | 11 | c.927 others(26): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587845 | G | GCCCCCGT others(4): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02615.hp1 HG03239.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0005 | a0001c0001t0001g0269 a0001c0001t0001g0326 a0001c0002t0005g0284 |
3 | 295 | 0.0102 | 11 | c.927 others(26): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587849 | C | CCGTGTCA others(4): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01175.hp1 HG01516.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0001a0001c0002t0003a0001c0002t0004others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0030 a0001c0001t0001g0034 others(16): Show |
20 | 300 | 0.0667 | 11 | c.927 others(26): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587855 | T | TACCCGCG others(4): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0314 | 1 | 144 | 0.0069 | 11 | c.927 others(26): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587947 | C | CCCCCCGT others(4): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0016 | 1 | 321 | 0.0031 | 11 | c.928 others(26): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587947 | C | CCCCTCGT others(4): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 321 | 0.0031 | 11 | c.928 others(26): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587947 | C | CCTCCCGT others(4): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0019 | 1 | 321 | 0.0031 | 11 | c.928 others(26): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587951 | C | CCATGTCA others(4): Show |
intron_variant | MODIFIER | NA18970.hp2 NA19057.hp1 |
a0001a0011 | a0001c0001a0011c0021 | a0001c0001t0001a0011c0021t0001 | a0001c0001t0001g0187 a0011c0021t0001g0216 |
2 | 270 | 0.0074 | 11 | c.928 others(26): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587951 | C | CCGTGTCA others(4): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02027.hp1 HG02080.hp2 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(8): Show | a0001c0001t0001g0171 a0001c0001t0001g0237 a0001c0001t0001g0325 others(14): Show |
17 | 285 | 0.0596 | 11 | c.928 others(26): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587951 | C | CCGTGTTA others(4): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 269 | 0.0037 | 11 | c.928 others(26): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587957 | T | TACCCGCG others(4): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0331 | 1 | 138 | 0.0072 | 11 | c.928 others(26): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587973 | G | GCCCCCGT others(4): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01952.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 a0001c0001t0001g0096 a0001c0001t0001g0325 |
3 | 313 | 0.0096 | 11 | c.928 others(26): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587977 | C | CCGTGTCA others(4): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0019 | 1 | 272 | 0.0037 | 11 | c.928 others(26): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587977 | C | CCGTGTCA others(4): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00741.hp2 HG01261.hp2 others(17): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(9): Show | a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0262 others(17): Show |
20 | 291 | 0.0687 | 11 | c.928 others(26): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89588000 | C | CCCCCCGT others(4): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0326 | 1 | 334 | 0.0030 | 11 | c.928 others(26): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89588004 | C | CCGTGTCA others(4): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01071.hp2 HG01361.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(7): Show | a0001c0001t0001g0011 a0001c0001t0001g0058 a0001c0001t0001g0060 others(20): Show |
23 | 289 | 0.0796 | 11 | c.928 others(26): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89588010 | T | TACCCGCG others(4): Show |
intron_variant | MODIFIER | HG02080.hp1 NA19009.hp2 NA19087.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0004a0002c0003t0003 | a0001c0001t0001g0048 a0001c0002t0004g0215 a0002c0003t0003g0144 others(1): Show |
4 | 153 | 0.0261 | 11 | c.928 others(26): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89588065 | C | CCCCCCGT others(4): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 331 | 0.0060 | 11 | c.928 others(26): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89588069 | C | CCGTGTCA others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG01071.hp2 others(11): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0013others(2): Show | a0001c0001t0001a0001c0002t0003a0001c0002t0013others(3): Show | a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0097 others(11): Show |
14 | 296 | 0.0473 | 11 | c.928 others(26): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89588069 | C | CCGTGTTA others(4): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 283 | 0.0035 | 11 | c.928 others(26): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89588069 | C | CGTGTCAC others(4): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 283 | 0.0035 | 11 | c.928 others(26): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | chr16 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89588075 | T | TACCCGCG others(4): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01346.hp2 NA18962.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0002a0002c0004t0002 | a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0002t0002g0270 others(1): Show |
4 | 128 | 0.0313 | 11 | c.928 others(26): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89588091 | G | GCCCCCGT others(4): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01952.hp2 |
a0001a0005 | a0001c0001a0005c0014 | a0001c0001t0001a0005c0014t0001 | a0001c0001t0001g0325 a0005c0014t0001g0012 |
2 | 298 | 0.0067 | 11 | c.928 others(26): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89588095 | C | CCGTGTCA others(4): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01346.hp2 HG01361.hp1 others(27): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(9): Show | a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0031 others(26): Show |
30 | 261 | 0.1149 | 11 | c.928 others(26): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE8_chr12_38647203_38910591 | 38653617 | T | TAAAAAAA others(4): Show |
3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG01070.hp2 HG01071.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0008a0001c0002t0023 | a0001c0001t0006g0092 a0001c0001t0006g0183 a0001c0001t0006g0187 others(19): Show |
22 | 165 | 0.1333 | 11 | c.*25 others(20): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 20/20 | 264 | chr12 | TogoVar | ||||||
CPNE8_chr12_38647203_38910591 | 38653620 | A | AAAAAAAA others(4): Show |
3_prime_UTR_variant | MODIFIER | HG02698.hp2 HG03017.hp2 HG03239.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0020a0001c0003t0011 | a0001c0001t0020g0170 a0001c0003t0011g0001 a0001c0003t0011g0002 others(1): Show |
4 | 332 | 0.0120 | 11 | c.*26 others(20): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 20/20 | 261 | chr12 | TogoVar | ||||||
CPNE8_chr12_38647203_38910591 | 38710268 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0002 | a0001c0002t0028 | a0001c0002t0028g0311 | 1 | 3 | 0.3333 | 11 | c.915 others(28): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 13/19 | chr12 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38736234 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00642.hp2 others(56): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0014a0001c0002t0002others(8): Show | a0001c0001t0001g0121 a0001c0001t0001g0130 a0001c0001t0001g0148 others(56): Show |
59 | 170 | 0.3471 | 11 | c.723 others(28): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 10/19 | chr12 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38756039 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02615.hp2 HG03471.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0002 | a0001c0001t0012g0111 a0001c0001t0012g0135 a0001c0002t0002g0184 others(1): Show |
4 | 122 | 0.0328 | 11 | c.722 others(28): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 10/19 | chr12 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38902362 | A | AAGAAAAG others(4): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02074.hp1 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0322 |
3 | 330 | 0.0091 | 11 | c.98+ others(26): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38902366 | A | AAAGAAAG others(4): Show |
intron_variant | MODIFIER | HG01261.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0286 a0001c0001t0005g0129 |
2 | 330 | 0.0061 | 11 | c.98+ others(26): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38902370 | A | AAAGAAAG others(4): Show |
intron_variant | MODIFIER | HG02155.hp1 HG02615.hp2 HG03486.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0012 | a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 others(3): Show |
6 | 326 | 0.0184 | 11 | c.98+ others(26): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38902374 | A | AAAGAAAG others(4): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0134 | 1 | 338 | 0.0030 | 11 | c.98+ others(26): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
CPPED1_chr16_12654799_12808887 | 12689217 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03516.hp1 |
a0004 | a0004c0004 | a0004c0004t0007 | a0004c0004t0007g0090 a0004c0004t0007g0092 |
2 | 151 | 0.0132 | 11 | c.715 others(30): Show |
CPPED1 | ENSG00000103381.12 | transcript | ENST00000381774.9 | protein_coding | 3/3 | chr16 | TogoVar | |||||||
CPPED1_chr16_12654799_12808887 | 12713831 | T | TGTAATTC others(4): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00609.hp1 others(24): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(17): Show | a0001c0001t0001g0176 a0001c0001t0001g0185 a0001c0001t0001g0190 others(24): Show |
27 | 288 | 0.0938 | 11 | c.290 others(28): Show |
CPPED1 | ENSG00000103381.12 | transcript | ENST00000381774.9 | protein_coding | 2/3 | chr16 | TogoVar | |||||||
CPPED1_chr16_12654799_12808887 | 12783976 | A | ATCCCTGC others(4): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01261.hp2 HG02055.hp2 others(14): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0002c0002t0004a0002c0002t0011others(9): Show | a0002c0002t0001g0065 a0002c0002t0001g0076 a0002c0002t0004g0064 others(14): Show |
17 | 288 | 0.0590 | 11 | c.71- others(26): Show |
CPPED1 | ENSG00000103381.12 | transcript | ENST00000381774.9 | protein_coding | 1/3 | chr16 | TogoVar | |||||||
CPPED1_chr16_12654799_12808887 | 12803886 | T | TAACCGCG others(4): Show |
5_prime_UTR_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0002 | a0002c0002t0030 | a0002c0002t0030g0289 | 1 | 288 | 0.0035 | 11 | c.-11 others(20): Show |
CPPED1 | ENSG00000103381.12 | transcript | ENST00000381774.9 | protein_coding | 1/4 | 111 | chr16 | TogoVar | ||||||
CPPED1_chr16_12654799_12808887 | 12803887 | C | CGGGGCGG others(4): Show |
upstream_gene_variant | MODIFIER | HG01255.hp1 HG01258.hp1 HG01346.hp2 others(20): Show |
a0002a0004a0007 | a0002c0002a0002c0006a0004c0004others(1): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0016others(10): Show | a0002c0002t0001g0118 a0002c0002t0001g0122 a0002c0002t0001g0127 others(20): Show |
23 | 287 | 0.0801 | 11 | c.-11 others(20): Show |
CPPED1 | ENSG00000103381.12 | transcript | ENST00000381774.9 | protein_coding | 1 | chr16 | TogoVar | |||||||
CPQ_chr8_96640242_97148501 | 96854530 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0050 | 1 | 61 | 0.0164 | 11 | c.641 others(30): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 96975311 | G | GAACAGAC others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00733.hp2 HG01081.hp1 others(86): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 others(86): Show |
89 | 124 | 0.7177 | 11 | c.961 others(28): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPSF2_chr14_92116969_92177145 | 92165854 | C | CTTTTTTT others(4): Show |
3_prime_UTR_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0121 | a0001c0001t0121g0249 | 1 | 75 | 0.0133 | 11 | c.*41 others(22): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 16/16 | 4136 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CPSF2_chr14_92116969_92177145 | 92173373 | A | ATAATATA others(4): Show |
downstream_gene_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0088 | a0001c0001t0088g0155 | 1 | 386 | 0.0026 | 11 | c.*11 others(24): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 1229 | chr14 | TogoVar | |||||||
CPSF4_chr7_99433943_99462373 | 99446771 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 NA18971.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0103 a0001c0003t0002g0248 |
2 | 97 | 0.0206 | 11 | c.155 others(28): Show |
CPSF4 | ENSG00000160917.15 | transcript | ENST00000292476.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPSF6_chr12_69234569_69279358 | 69249152 | C | CGGTGGGG others(4): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01346.hp1 HG02165.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006a0001c0002t0026others(3): Show | a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0018 others(7): Show |
11 | 166 | 0.0663 | 11 | c.61- others(26): Show |
CPSF6 | ENSG00000111605.18 | transcript | ENST00000435070.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CPT1A_chr11_68749883_68846916 | 68768066 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0006 | a0002c0006t0011 | a0002c0006t0011g0165 | 1 | 11 | 0.0909 | 11 | c.174 others(30): Show |
CPT1A | ENSG00000110090.13 | transcript | ENST00000265641.10 | protein_coding | 14/18 | chr11 | TogoVar | |||||||
CPT1A_chr11_68749883_68846916 | 68838570 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0006 | a0002c0006t0011 | a0002c0006t0011g0104 | 1 | 234 | 0.0043 | 11 | c.-14 others(28): Show |
CPT1A | ENSG00000110090.13 | transcript | ENST00000265641.10 | protein_coding | 1/18 | chr11 | TogoVar | |||||||
CPT1A_chr11_68749883_68846916 | 68838571 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01175.hp1 HG01175.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 others(8): Show |
11 | 131 | 0.0840 | 11 | c.-14 others(28): Show |
CPT1A | ENSG00000110090.13 | transcript | ENST00000265641.10 | protein_coding | 1/18 | chr11 | TogoVar | |||||||
CPT1A_chr11_68749883_68846916 | 68838579 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0025 | 1 | 231 | 0.0043 | 11 | c.-14 others(28): Show |
CPT1A | ENSG00000110090.13 | transcript | ENST00000265641.10 | protein_coding | 1/18 | chr11 | TogoVar | |||||||
CPT1C_chr19_49686116_49718731 | 49701953 | A | AATATAAA others(4): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00642.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0002 | a0001c0001t0001g0310 a0001c0001t0002g0023 a0001c0001t0002g0027 others(7): Show |
10 | 327 | 0.0306 | 11 | c.693 others(26): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |