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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRIP2_chr14_105469821_105485162 | 105472953 | T | TTCTGGCA others(27): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 316 | 0.0032 | 34 | c.-19 others(45): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1867 | chr14 | TogoVar | ||||||
CRKL_chr22_20912407_20958747 | 20916635 | A | AAAAGAAA others(27): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0248 | 1 | 370 | 0.0027 | 34 | c.-13 others(45): Show |
CRKL | ENSG00000099942.13 | transcript | ENST00000354336.8 | protein_coding | 771 | chr22 | TogoVar | ||||||
CRKL_chr22_20912407_20958747 | 20927192 | A | ATTTTTTT others(27): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0113 | 1 | 370 | 0.0027 | 34 | c.312 others(51): Show |
CRKL | ENSG00000099942.13 | transcript | ENST00000354336.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRLF2_chrX_1185490_1217649 | 1201526 | G | GAGACAGA others(27): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(84): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(26): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0027others(84): Show | 87 | 167 | 0.5210 | 34 | c.483 others(49): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 4/7 | chrX | TogoVar | ||||||
CRLF2_chrX_1185490_1217649 | 1201526 | G | GAGATAGA others(27): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00558.hp1 others(27): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0092others(27): Show | 30 | 167 | 0.1796 | 34 | c.483 others(49): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 4/7 | chrX | TogoVar | ||||||
CRLF2_chrX_1185490_1217649 | 1201537 | T | TACAAAGA others(27): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0020 | 1 | 167 | 0.0060 | 34 | c.483 others(49): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 4/7 | chrX | TogoVar | ||||||
CRLF2_chrX_1185490_1217649 | 1210770 | A | AGAAATAG others(27): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0141 | 1 | 167 | 0.0060 | 34 | c.79+ others(49): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 1/7 | chrX | TogoVar | ||||||
CRMP1_chr4_5815764_5898086 | 5837650 | T | TAATAAAA others(27): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02451.hp2 NA18906.hp1 |
a0001a0002 | a0001c0008a0002c0004a0002c0011 | a0001c0008t0003a0002c0004t0002a0002c0011t0003 | a0001c0008t0003g0287a0002c0004t0002g0052a0002c0011t0003g0024 | 3 | 314 | 0.0096 | 34 | c.131 others(51): Show |
CRMP1 | ENSG00000072832.15 | transcript | ENST00000324989.12 | protein_coding | 9/13 | chr4 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240923829 | A | ACCCCGGC others(27): Show |
intron_variant | MODIFIER | NA18970.hp1 NA18970.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0253a0002c0002t0002g0264 | 2 | 350 | 0.0057 | 34 | c.488 others(51): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240923836 | C | CCCCCACA others(27): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0274 | 1 | 350 | 0.0029 | 34 | c.488 others(51): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240923854 | C | CCCCCCAC others(27): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0204 | 1 | 350 | 0.0029 | 34 | c.488 others(51): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240923992 | C | CCCCCACA others(27): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02723.hp2 |
a0024a0047 | a0024c0091a0047c0090 | a0024c0091t0001a0047c0090t0001 | a0024c0091t0001g0133a0047c0090t0001g0112 | 2 | 350 | 0.0057 | 34 | c.488 others(51): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924010 | C | CCCCACAC others(27): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01981.hp2 HG02109.hp1 others(6): Show |
a0001a0002a0008others(1): Show | a0001c0001a0002c0002a0008c0008others(1): Show | a0001c0001t0002a0001c0001t0003a0002c0002t0001others(3): Show | a0001c0001t0002g0267a0001c0001t0002g0273a0001c0001t0003g0064others(6): Show | 9 | 350 | 0.0257 | 34 | c.488 others(51): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924010 | C | CCCCACAC others(27): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0008 | a0008c0008 | a0008c0008t0002 | a0008c0008t0002g0337 | 1 | 350 | 0.0029 | 34 | c.488 others(51): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924027 | C | CCCCCCAC others(27): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0019 | a0019c0015 | a0019c0015t0001 | a0019c0015t0001g0028 | 1 | 350 | 0.0029 | 34 | c.488 others(51): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924060 | A | AGCCCCCA others(27): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0019 | a0019c0015 | a0019c0015t0001 | a0019c0015t0001g0108 | 1 | 350 | 0.0029 | 34 | c.488 others(51): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924079 | C | CCCCCCAC others(27): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0115 | 1 | 350 | 0.0029 | 34 | c.488 others(51): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924148 | A | AGTCCCCA others(27): Show |
intron_variant | MODIFIER | HG02015.hp2 NA18944.hp1 NA18966.hp2 others(4): Show |
a0007a0010a0050 | a0007c0006a0010c0009a0050c0039 | a0007c0006t0001a0007c0006t0003a0010c0009t0001others(2): Show | a0007c0006t0001g0088a0007c0006t0003g0002a0010c0009t0001g0087others(2): Show | 7 | 350 | 0.0200 | 34 | c.488 others(51): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924148 | A | AGTCCCCA others(27): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0010 | a0010c0009 | a0010c0009t0001 | a0010c0009t0001g0090 | 1 | 350 | 0.0029 | 34 | c.488 others(51): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924167 | C | CCCCCCAC others(27): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0208 | 1 | 350 | 0.0029 | 34 | c.488 others(51): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924185 | C | CCCCCACA others(27): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01074.hp1 HG01358.hp2 others(4): Show |
a0001a0002a0008others(2): Show | a0001c0001a0002c0002a0008c0008others(2): Show | a0001c0001t0002a0001c0001t0004a0002c0002t0002others(3): Show | a0001c0001t0002g0277a0001c0001t0004g0304a0002c0002t0002g0259others(4): Show | 7 | 350 | 0.0200 | 34 | c.489 others(51): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924186 | C | CCCCACAC others(27): Show |
intron_variant | MODIFIER | HG03225.hp2 NA19043.hp2 |
a0019a0057 | a0019c0015a0057c0031 | a0019c0015t0001a0057c0031t0001 | a0019c0015t0001g0028a0057c0031t0001g0107 | 2 | 350 | 0.0057 | 34 | c.489 others(51): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924231 | G | GACCCAGC others(27): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02071.hp2 HG02129.hp2 others(11): Show |
a0001a0002a0008others(3): Show | a0001c0022a0002c0002a0002c0011others(4): Show | a0001c0022t0002a0002c0002t0001a0002c0011t0002others(4): Show | a0001c0022t0002g0322a0001c0022t0002g0343a0002c0002t0001g0168others(11): Show | 14 | 350 | 0.0400 | 34 | c.489 others(51): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924231 | G | GACCCGGC others(27): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG00673.hp1 others(8): Show |
a0001a0002a0008others(1): Show | a0001c0001a0002c0002a0008c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0191a0001c0001t0002g0288a0001c0001t0002g0311others(8): Show | 11 | 350 | 0.0314 | 34 | c.489 others(51): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924255 | C | CCCCCACA others(27): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0009 | a0009c0010 | a0009c0010t0003 | a0009c0010t0003g0219 | 1 | 350 | 0.0029 | 34 | c.489 others(51): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924308 | C | CCCCCACA others(27): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0245 | 1 | 350 | 0.0029 | 34 | c.489 others(51): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924407 | C | CCAGTCCC others(27): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0009 | a0009c0048 | a0009c0048t0001 | a0009c0048t0001g0207 | 1 | 350 | 0.0029 | 34 | c.489 others(51): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924631 | A | AACCCAGC others(27): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0009 | a0009c0010 | a0009c0010t0003 | a0009c0010t0003g0210 | 1 | 350 | 0.0029 | 34 | c.489 others(51): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240924631 | A | AACCCAGC others(27): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0221 | 1 | 350 | 0.0029 | 34 | c.489 others(51): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240924775 | G | GGCCCCCA others(27): Show |
intron_variant | MODIFIER | HG02622.hp2 NA18970.hp1 |
a0002a0008 | a0002c0002a0008c0008 | a0002c0002t0002a0008c0008t0002 | a0002c0002t0002g0253a0008c0008t0002g0296 | 2 | 350 | 0.0057 | 34 | c.489 others(49): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924811 | C | CCCCCACA others(27): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0048 | a0048c0066 | a0048c0066t0002 | a0048c0066t0002g0269 | 1 | 350 | 0.0029 | 34 | c.489 others(49): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924821 | A | AACCCAGT others(27): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03041.hp1 |
a0015a0022 | a0015c0016a0022c0042 | a0015c0016t0002a0022c0042t0002 | a0015c0016t0002g0246a0022c0042t0002g0282 | 2 | 350 | 0.0057 | 34 | c.489 others(49): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CRPPA_chr7_16082525_16426538 | 16089468 | T | TGTACGTA others(27): Show |
3_prime_UTR_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0004 | a0002c0004t0084 | a0002c0004t0084g0286 | 1 | 290 | 0.0035 | 34 | c.*22 others(45): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 10/10 | 2226 | chr7 | TogoVar | |||||
CRPPA_chr7_16082525_16426538 | 16387061 | A | ACATATAT others(27): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0004 | a0002c0004t0034 | a0002c0004t0034g0285 | 1 | 290 | 0.0035 | 34 | c.535 others(53): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18689583 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG02602.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0071 | 2 | 274 | 0.0073 | 34 | c.126 others(51): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106361971 | T | TTCTTTCT others(27): Show |
intron_variant | MODIFIER | HG01361.hp2 HG03139.hp1 |
a0034a0043 | a0034c0052a0043c0066 | a0034c0052t0001a0043c0066t0001 | a0034c0052t0001g0186a0043c0066t0001g0191 | 2 | 272 | 0.0074 | 34 | c.173 others(49): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106377621 | T | TTATATAT others(27): Show |
intron_variant | MODIFIER | HG02451.hp2 NA18945.hp1 |
a0005a0007 | a0005c0006a0007c0007 | a0005c0006t0003a0007c0007t0004 | a0005c0006t0003g0145a0007c0007t0004g0188 | 2 | 272 | 0.0074 | 34 | c.173 others(53): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG3_chr3_97817011_97949984 | 97946586 | G | GTATATAT others(27): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 HG03486.hp1 |
a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0153a0006c0008t0001g0154 | 2 | 316 | 0.0063 | 34 | c.*32 others(45): Show |
CRYBG3 | ENSG00000080200.10 | transcript | ENST00000389622.7 | protein_coding | 1603 | chr3 | TogoVar | ||||||
CRYGA_chr2_208155740_208168589 | 208165042 | A | AACCCAGT others(27): Show |
upstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 394 | 0.0025 | 34 | c.-14 others(45): Show |
CRYGA | ENSG00000168582.5 | transcript | ENST00000304502.5 | protein_coding | 1454 | chr2 | TogoVar | ||||||
CRYGN_chr7_151423832_151445141 | 151428290 | C | CTTCTTTT others(27): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009 | 1 | 452 | 0.0022 | 34 | c.*17 others(45): Show |
CRYGN | ENSG00000127377.10 | transcript | ENST00000337323.3 | protein_coding | 541 | chr7 | TogoVar | ||||||
CRYZ_chr1_74700486_74738050 | 74701069 | C | CTATTTTG others(27): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00558.hp1 others(77): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0032others(59): Show | 80 | 372 | 0.2151 | 34 | c.*52 others(45): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 4416 | chr1 | TogoVar | ||||||
CSAG1_chrX_152722484_152738721 | 152730009 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0055 | 1 | 318 | 0.0031 | 34 | c.17- others(49): Show |
CSAG1 | ENSG00000198930.13 | transcript | ENST00000452779.3 | protein_coding | 2/3 | chrX | TogoVar | ||||||
CSE1L_chr20_49041312_49101949 | 49047564 | C | CTTTTTTT others(27): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0371 | 1 | 386 | 0.0026 | 34 | c.-12 others(51): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CSE1L_chr20_49041312_49101949 | 49065313 | A | ATTTTTTT others(27): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 386 | 0.0026 | 34 | c.229 others(49): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1295838 | C | CCTACAGT others(27): Show |
intron_variant | MODIFIER | HG02109.hp1 NA21309.hp1 |
a0001a0003 | a0001c0002a0003c0020 | a0001c0002t0005a0003c0020t0005 | a0001c0002t0005g0040a0003c0020t0005g0129 | 2 | 159 | 0.0126 | 34 | c.810 others(49): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1314708 | C | CTAACCGT others(27): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 | a0005 | a0005c0008 | a0005c0008t0007 | a0005c0008t0007g0139 | 1 | 159 | 0.0063 | 34 | c.*52 others(45): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4774 | chrX | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19514475 | C | CTATATAT others(27): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01099.hp1 |
a0005 | a0005c0011 | a0005c0011t0003 | a0005c0011t0003g0180a0005c0011t0003g0181 | 2 | 238 | 0.0084 | 34 | c.-29 others(53): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19553620 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0001 | 1 | 238 | 0.0042 | 34 | c.-29 others(55): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19666809 | A | AAGAAAGA others(27): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0150 | 1 | 238 | 0.0042 | 34 | c.-39 others(55): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19666809 | A | AAGAAAGA others(27): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0142 | 1 | 238 | 0.0042 | 34 | c.-39 others(55): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar |