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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COX18_chr4_73047362_73074716 | 73067864 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01255.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114a0001c0001t0001g0115 | 2 | 384 | 0.0052 | 19 | c.434 others(34): Show |
COX18 | ENSG00000163626.17 | transcript | ENST00000507544.3 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
COX18_chr4_73047362_73074716 | 73067864 | A | AAAAAAAT others(12): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01255.hp2 HG02145.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0002t0002a0002c0006t0007 | a0001c0001t0001g0022a0001c0001t0001g0108a0001c0002t0002g0194others(1): Show | 7 | 384 | 0.0182 | 19 | c.434 others(34): Show |
COX18 | ENSG00000163626.17 | transcript | ENST00000507544.3 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
COX4I2_chr20_31632912_31650006 | 31633906 | T | TAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02809.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0046a0002c0002t0001g0049 | 2 | 300 | 0.0067 | 19 | c.-40 others(30): Show |
COX4I2 | ENSG00000131055.5 | transcript | ENST00000376075.4 | protein_coding | 4005 | chr20 | TogoVar | ||||||
COX7A2_chr6_75232787_75248801 | 75248081 | C | CTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 382 | 0.0026 | 19 | c.-43 others(30): Show |
COX7A2 | ENSG00000112695.13 | transcript | ENST00000684430.2 | protein_coding | 4281 | chr6 | TogoVar | ||||||
COX7B2_chr4_46729827_46914245 | 46747298 | T | TTTTATTT others(12): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00621.hp2 others(55): Show |
a0000a0001 | a0000c0002a0001c0001 | a0000c0002t0003a0001c0001t0001a0001c0001t0003others(2): Show | a0000c0002t0003g0233a0001c0001t0001g0154a0001c0001t0001g0157others(55): Show | 58 | 300 | 0.1933 | 19 | c.-49 others(38): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
COX7B2_chr4_46729827_46914245 | 46880993 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 300 | 0.0033 | 19 | c.-10 others(40): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 1/2 | chr4 | TogoVar | ||||||
COX7B2_chr4_46729827_46914245 | 46907848 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00735.hp1 HG01123.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0007a0001c0001t0002g0022a0001c0001t0002g0023others(17): Show | 20 | 300 | 0.0667 | 19 | c.-10 others(38): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 1/2 | chr4 | TogoVar | ||||||
CPA2_chr7_130261863_130294798 | 130267832 | T | TTTCTTTC others(12): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0218 | 1 | 400 | 0.0025 | 19 | c.71+ others(32): Show |
CPA2 | ENSG00000158516.12 | transcript | ENST00000222481.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPA3_chr3_148860296_148902203 | 148899547 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 400 | 0.0025 | 19 | c.*28 others(30): Show |
CPA3 | ENSG00000163751.4 | transcript | ENST00000296046.4 | protein_coding | 2345 | chr3 | TogoVar | ||||||
CPA4_chr7_130288161_130329180 | 130308850 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02965.hp2 |
a0006 | a0006c0010 | a0006c0010t0005 | a0006c0010t0005g0054a0006c0010t0005g0055 | 2 | 402 | 0.0050 | 19 | c.793 others(34): Show |
CPA4 | ENSG00000128510.12 | transcript | ENST00000222482.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPA6_chr8_67417038_67751360 | 67448639 | G | GAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01175.hp2 HG03492.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0063a0002c0002t0001g0068 | 2 | 144 | 0.0139 | 19 | c.839 others(38): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 8/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67681200 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02622.hp2 HG02723.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0056a0001c0001t0001g0080a0001c0001t0001g0088others(5): Show | 8 | 144 | 0.0556 | 19 | c.117 others(38): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16906337 | C | CTTTCTTT others(12): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0154 | 1 | 278 | 0.0036 | 19 | c.402 others(36): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 30/41 | chr19 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16979447 | A | AATCCACC others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(162): Show |
a0001a0002a0004others(78): Show | a0001c0001a0001c0007a0001c0013others(116): Show | a0001c0001t0002a0001c0007t0002a0001c0013t0001others(116): Show | a0001c0001t0002g0048a0001c0001t0002g0147a0001c0001t0002g0158others(162): Show | 165 | 278 | 0.5935 | 19 | c.158 others(38): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 14/41 | chr19 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16987177 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0123 | a0123c0048 | a0123c0048t0001 | a0123c0048t0001g0011 | 1 | 278 | 0.0036 | 19 | c.139 others(38): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 13/41 | chr19 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16987179 | A | AAATATAT others(12): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0007 | a0007c0016 | a0007c0016t0001 | a0007c0016t0001g0007 | 1 | 278 | 0.0036 | 19 | c.139 others(38): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 13/41 | chr19 | TogoVar | ||||||
CPEB1_chr15_82538201_82652363 | 82584903 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01361.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0211a0001c0001t0014g0212a0001c0001t0014g0213 | 3 | 354 | 0.0085 | 19 | c.272 others(38): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 3/12 | chr15 | TogoVar | ||||||
CPEB1_chr15_82538201_82652363 | 82606817 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02572.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0015 | a0001c0001t0009g0187a0001c0001t0009g0232a0001c0001t0009g0239others(2): Show | 5 | 354 | 0.0141 | 19 | c.271 others(38): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 3/12 | chr15 | TogoVar | ||||||
CPEB3_chr10_92041692_92296078 | 92289718 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02735.hp2 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0032 | a0001c0001t0006g0228a0001c0001t0032g0239 | 2 | 278 | 0.0072 | 19 | c.-12 others(36): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
CPEB3_chr10_92041692_92296078 | 92289732 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0218 | 1 | 278 | 0.0036 | 19 | c.-12 others(36): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
CPED1_chr7_120983711_121302442 | 121088763 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00642.hp2 HG00741.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0061a0002c0002t0001g0086a0002c0002t0001g0093others(3): Show | 6 | 140 | 0.0429 | 19 | c.617 others(36): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPED1_chr7_120983711_121302442 | 121199689 | A | AAAGAAAG others(12): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0100 | 1 | 140 | 0.0071 | 19 | c.205 others(40): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPE_chr4_165374008_165503547 | 165481016 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178a0001c0001t0001g0180 | 2 | 332 | 0.0060 | 19 | c.673 others(36): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CPHXL2_chr16_75655227_75682009 | 75673497 | T | TTAATTTC others(12): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 392 | 0.0026 | 19 | c.13+ others(34): Show |
CPHXL2 | ENSG00000284484.1 | transcript | ENST00000640173.1 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
CPHXL_chr16_75709131_75731490 | 75725753 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 388 | 0.0026 | 19 | c.25+ others(32): Show |
CPHXL | ENSG00000283755.2 | transcript | ENST00000640559.2 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
CPLANE1_chr5_37101235_37254376 | 37147971 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0010 | a0010c0040 | a0010c0040t0001 | a0010c0040t0001g0052 | 1 | 268 | 0.0037 | 19 | c.846 others(36): Show |
CPLANE1 | ENSG00000197603.16 | transcript | ENST00000651892.2 | protein_coding | 43/52 | chr5 | TogoVar | ||||||
CPLANE1_chr5_37101235_37254376 | 37154459 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02559.hp1 HG02970.hp1 others(1): Show |
a0009 | a0009c0012 | a0009c0012t0005 | a0009c0012t0005g0264a0009c0012t0005g0266a0009c0012t0005g0267others(1): Show | 4 | 268 | 0.0149 | 19 | c.812 others(36): Show |
CPLANE1 | ENSG00000197603.16 | transcript | ENST00000651892.2 | protein_coding | 41/52 | chr5 | TogoVar | ||||||
CPLANE1_chr5_37101235_37254376 | 37187060 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02559.hp2 |
a0008 | a0008c0007 | a0008c0007t0003 | a0008c0007t0003g0040a0008c0007t0003g0046 | 2 | 268 | 0.0075 | 19 | c.408 others(36): Show |
CPLANE1 | ENSG00000197603.16 | transcript | ENST00000651892.2 | protein_coding | 23/52 | chr5 | TogoVar | ||||||
CPLX2_chr5_175866578_175889021 | 175871458 | A | AGAGAGAG others(12): Show |
upstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0002 | 1 | 378 | 0.0027 | 19 | c.-33 others(28): Show |
CPLX2 | ENSG00000145920.15 | transcript | ENST00000393745.8 | protein_coding | 119 | chr5 | TogoVar | ||||||
CPNE3_chr8_86509435_86566498 | 86552104 | T | TGGGAGGG others(12): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0072 | 1 | 340 | 0.0029 | 19 | c.112 others(36): Show |
CPNE3 | ENSG00000085719.13 | transcript | ENST00000517490.6 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPNE3_chr8_86509435_86566498 | 86552962 | G | GCCCCCCC others(12): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01978.hp2 NA18953.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0002t0001a0001c0010t0001 | a0001c0001t0001g0064a0001c0001t0001g0275a0001c0002t0001g0310others(1): Show | 4 | 340 | 0.0118 | 19 | c.112 others(38): Show |
CPNE3 | ENSG00000085719.13 | transcript | ENST00000517490.6 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPNE4_chr3_131528569_132040014 | 131698233 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA19240.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0060a0001c0001t0002g0072 | 2 | 94 | 0.0213 | 19 | c.433 others(36): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 4/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131700054 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 94 | 0.0106 | 19 | c.361 others(32): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 3/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131737115 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02486.hp2 HG02647.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0013a0001c0002t0001 | a0001c0001t0002g0069a0001c0001t0013g0017a0001c0002t0001g0031others(1): Show | 4 | 94 | 0.0426 | 19 | c.181 others(38): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 2/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131766296 | A | ACATAGTA others(12): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03098.hp2 HG03516.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0014a0001c0003t0001others(1): Show | a0001c0001t0001g0011a0001c0001t0001g0021a0001c0002t0014g0065others(2): Show | 5 | 94 | 0.0532 | 19 | c.181 others(38): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 2/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131766296 | A | ACATAGTA others(12): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01069.hp2 others(75): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0010a0001c0001t0001g0015a0001c0001t0001g0016others(75): Show | 78 | 94 | 0.8298 | 19 | c.181 others(38): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 2/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131955410 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02735.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0043 | 2 | 94 | 0.0213 | 19 | c.-1- others(36): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131978231 | A | ATTTATAT others(12): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0035 | 1 | 94 | 0.0106 | 19 | c.-2+ others(36): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131978231 | A | ATTTATAT others(12): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01071.hp2 HG01081.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0032a0001c0001t0001g0040a0001c0001t0001g0042others(11): Show | 14 | 94 | 0.1489 | 19 | c.-2+ others(36): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131993472 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 94 | 0.0106 | 19 | c.-2+ others(36): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
CPNE5_chr6_36735775_36844444 | 36768225 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00621.hp2 others(45): Show |
a0001a0002 | a0001c0001a0001c0013a0002c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0027a0001c0001t0001g0040a0001c0001t0001g0041others(45): Show | 48 | 380 | 0.1263 | 19 | c.738 others(36): Show |
CPNE5 | ENSG00000124772.12 | transcript | ENST00000244751.7 | protein_coding | 10/20 | chr6 | TogoVar | ||||||
CPNE8_chr12_38647203_38910591 | 38736234 | T | TGTGTGTG others(12): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03139.hp1 HG03516.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0006 | a0001c0001t0003g0190a0001c0001t0005g0225a0001c0001t0005g0226others(2): Show | 5 | 342 | 0.0146 | 19 | c.723 others(36): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 10/19 | chr12 | TogoVar | ||||||
CPNE8_chr12_38647203_38910591 | 38902362 | A | AAGAAAGA others(12): Show |
intron_variant | MODIFIER | HG02148.hp2 HG02683.hp2 NA18946.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279a0001c0001t0001g0280a0001c0001t0001g0295 | 3 | 342 | 0.0088 | 19 | c.98+ others(34): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 1/19 | chr12 | TogoVar | ||||||
CPOX_chr3_98574446_98598611 | 98584603 | A | ACAATTCT others(12): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0120 | 1 | 448 | 0.0022 | 19 | c.117 others(36): Show |
CPOX | ENSG00000080819.9 | transcript | ENST00000647941.2 | protein_coding | 5/6 | chr3 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 96685136 | C | CAACAAAA others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG00733.hp2 others(75): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(11): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0036others(75): Show | 78 | 126 | 0.6191 | 19 | c.-35 others(38): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 96803668 | G | GATATCCC others(12): Show |
intron_variant | MODIFIER | HG02004.hp2 HG03516.hp1 HG03579.hp2 |
a0001a0006 | a0001c0001a0001c0007a0006c0010 | a0001c0001t0001a0001c0007t0001a0006c0010t0001 | a0001c0001t0001g0028a0001c0007t0001g0038a0006c0010t0001g0045 | 3 | 126 | 0.0238 | 19 | c.433 others(38): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 96854530 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03453.hp2 HG03486.hp1 others(1): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0002g0013a0001c0002t0001g0084a0001c0002t0002g0085others(1): Show | 4 | 126 | 0.0318 | 19 | c.641 others(38): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 97147510 | G | GAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 HG01261.hp1 HG01884.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0112a0001c0001t0002g0012a0001c0001t0002g0067others(12): Show | 15 | 126 | 0.1191 | 19 | c.*43 others(30): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 4010 | chr8 | TogoVar | ||||||
CPSF1_chr8_144388231_144414335 | 144398167 | A | AGGGCCCA others(12): Show |
intron_variant | MODIFIER | HG02109.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0042a0001c0001t0002g0041 | 2 | 350 | 0.0057 | 19 | c.189 others(34): Show |
CPSF1 | ENSG00000071894.17 | transcript | ENST00000616140.2 | protein_coding | 19/37 | chr8 | TogoVar | ||||||
CPSF1_chr8_144388231_144414335 | 144398167 | A | AGGGCCCA others(12): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(144): Show |
a0001a0003a0004others(5): Show | a0001c0002a0001c0003a0001c0006others(13): Show | a0001c0002t0001a0001c0003t0001a0001c0006t0001others(13): Show | a0001c0002t0001g0001a0001c0002t0001g0003a0001c0002t0001g0010others(60): Show | 147 | 350 | 0.4200 | 19 | c.189 others(34): Show |
CPSF1 | ENSG00000071894.17 | transcript | ENST00000616140.2 | protein_coding | 19/37 | chr8 | TogoVar |