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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRMP1_chr4_5815764_5898086 | 5883655 | G | GACACACA others(7): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0051 | 1 | 314 | 0.0032 | 14 | c.381 others(31): Show |
CRMP1 | ENSG00000072832.15 | transcript | ENST00000324989.12 | protein_coding | 1/13 | chr4 | TogoVar | ||||||
CRMP1_chr4_5815764_5898086 | 5891175 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01167.hp2 HG01169.hp1 others(2): Show |
a0001 | a0001c0002a0001c0009a0001c0021others(1): Show | a0001c0002t0010a0001c0009t0001a0001c0021t0003others(1): Show | a0001c0002t0010g0286a0001c0009t0001g0308a0001c0021t0003g0298others(2): Show | 5 | 314 | 0.0159 | 14 | c.381 others(31): Show |
CRMP1 | ENSG00000072832.15 | transcript | ENST00000324989.12 | protein_coding | 1/13 | chr4 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240928420 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02027.hp1 HG02027.hp2 others(18): Show |
a0004a0006a0009others(6): Show | a0004c0050a0006c0007a0009c0010others(6): Show | a0004c0050t0003a0006c0007t0001a0009c0010t0001others(7): Show | a0004c0050t0003g0218a0006c0007t0001g0093a0006c0007t0001g0094others(18): Show | 21 | 350 | 0.0600 | 14 | c.646 others(31): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 5/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240941913 | G | GCTTGCAG others(7): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0318 | 1 | 350 | 0.0029 | 14 | c.217 others(33): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 14/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240985659 | G | GGCACTCA others(7): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0070 | a0002c0070t0001 | a0002c0070t0001g0188 | 1 | 350 | 0.0029 | 14 | c.455 others(33): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | chr2 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16286038 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03130.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0036a0001c0001t0037 | a0001c0001t0036g0059a0001c0001t0037g0020 | 2 | 290 | 0.0069 | 14 | c.836 others(31): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 5/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16303477 | T | TAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02717.hp1 HG02896.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0009a0001c0001t0020others(3): Show | a0001c0001t0002g0159a0001c0001t0002g0161a0001c0001t0002g0162others(6): Show | 9 | 290 | 0.0310 | 14 | c.790 others(31): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 4/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16342794 | T | TAGATAGA others(7): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0006 | a0006c0008 | a0006c0008t0063 | a0006c0008t0063g0036 | 1 | 290 | 0.0035 | 14 | c.684 others(33): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 3/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16387068 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03139.hp1 |
a0004 | a0004c0006 | a0004c0006t0011 | a0004c0006t0011g0288a0004c0006t0011g0289 | 2 | 290 | 0.0069 | 14 | c.535 others(33): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16389928 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0002 | a0002c0002t0051 | a0002c0002t0051g0276 | 1 | 290 | 0.0035 | 14 | c.535 others(33): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 97890090 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0204 | 1 | 204 | 0.0049 | 14 | c.148 others(33): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 11/14 | chr10 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 97894711 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG01255.hp2 NA18943.hp1 NA19030.hp2 |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0002c0007t0001 | a0001c0001t0001g0081a0001c0001t0001g0143a0002c0007t0001g0151 | 3 | 204 | 0.0147 | 14 | c.148 others(31): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 11/14 | chr10 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 97950246 | C | CACAGAGA others(7): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 204 | 0.0049 | 14 | c.225 others(33): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 97950272 | G | GAGAGAGA others(7): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02895.hp1 NA20905.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017a0001c0002t0001g0018a0001c0002t0001g0019 | 3 | 204 | 0.0147 | 14 | c.225 others(33): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 98005100 | A | ATATATTT others(7): Show |
intron_variant | MODIFIER | NA19081.hp1 NA19086.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0057a0001c0003t0001g0058 | 2 | 204 | 0.0098 | 14 | c.224 others(31): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 98005100 | A | ATATTTTT others(7): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01978.hp1 HG02300.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0006t0001 | a0001c0001t0001g0039a0001c0001t0001g0097a0001c0002t0001g0050others(3): Show | 6 | 204 | 0.0294 | 14 | c.224 others(31): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 98005100 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00642.hp1 HG03239.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0001a0001c0003t0001a0002c0005t0001 | a0001c0001t0001g0062a0001c0001t0001g0088a0001c0003t0001g0078others(2): Show | 5 | 204 | 0.0245 | 14 | c.224 others(31): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | ||||||
CRTAM_chr11_122833500_122877643 | 122868188 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0252 | 1 | 428 | 0.0023 | 14 | c.105 others(31): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CRTAP_chr3_33109014_33152773 | 33113169 | G | GGAAAAAA others(7): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0004 | a0001c0004t0075 | a0001c0004t0075g0065 | 1 | 408 | 0.0025 | 14 | c.-90 others(23): Show |
CRTAP | ENSG00000170275.15 | transcript | ENST00000320954.11 | protein_coding | 844 | chr3 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18689583 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 274 | 0.0037 | 14 | c.126 others(31): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRTC1_chr19_18678680_18787333 | 18727580 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02135.hp1 HG02559.hp2 others(7): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0001g0258a0001c0001t0005g0063a0001c0001t0008g0134others(7): Show | 10 | 274 | 0.0365 | 14 | c.127 others(33): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRTC1_chr19_18678680_18787333 | 18727580 | C | CCAAAAAA others(7): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0177 | 1 | 274 | 0.0037 | 14 | c.127 others(33): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | chr19 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18728815 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0147 | 1 | 274 | 0.0037 | 14 | c.127 others(33): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90641685 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 |
a0003 | a0003c0003a0003c0014 | a0003c0003t0009a0003c0014t0030 | a0003c0003t0009g0032a0003c0014t0030g0253 | 2 | 276 | 0.0073 | 14 | c.165 others(31): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRX_chr19_47816937_47848324 | 47820514 | C | CAGAGAGA others(7): Show |
upstream_gene_variant | MODIFIER | HG02071.hp1 NA18951.hp1 NA18964.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012a0001c0001t0021others(2): Show | a0001c0001t0002g0269a0001c0001t0002g0270a0001c0001t0012g0271others(3): Show | 6 | 344 | 0.0174 | 14 | c.-15 others(25): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 1422 | chr19 | TogoVar | ||||||
CRX_chr19_47816937_47848324 | 47825765 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00639.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0013others(5): Show | a0001c0001t0001g0227a0001c0001t0001g0267a0001c0001t0001g0279others(20): Show | 24 | 344 | 0.0698 | 14 | c.-36 others(31): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRX_chr19_47816937_47848324 | 47832105 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01192.hp1 HG02559.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0017a0001c0001t0035others(1): Show | a0001c0001t0003g0032a0001c0001t0003g0244a0001c0001t0017g0111others(2): Show | 5 | 344 | 0.0145 | 14 | c.-35 others(31): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRX_chr19_47816937_47848324 | 47844574 | A | ATTTTTTT others(7): Show |
downstream_gene_variant | MODIFIER | HG02735.hp2 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0031 | a0001c0001t0005g0021a0001c0001t0031g0266 | 2 | 344 | 0.0058 | 14 | c.*46 others(25): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 1251 | chr19 | TogoVar | ||||||
CRY1_chr12_106986364_107098549 | 106998659 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01123.hp1 HG01433.hp1 others(29): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0005 | a0001c0001t0002a0001c0001t0005a0001c0004t0002others(1): Show | a0001c0001t0002g0009a0001c0001t0002g0010a0001c0001t0002g0236others(27): Show | 32 | 320 | 0.1000 | 14 | c.113 others(31): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 7/12 | chr12 | TogoVar | ||||||
CRY1_chr12_106986364_107098549 | 106998679 | C | CACACACA others(7): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0307 | 1 | 320 | 0.0031 | 14 | c.113 others(31): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 7/12 | chr12 | TogoVar | ||||||
CRY1_chr12_106986364_107098549 | 107009563 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02723.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0193a0001c0001t0003g0224a0001c0002t0003g0176others(2): Show | 5 | 320 | 0.0156 | 14 | c.268 others(31): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 2/12 | chr12 | TogoVar | ||||||
CRYBA4_chr22_26616963_26635669 | 26627360 | C | CCTCCCTC others(7): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 402 | 0.0025 | 14 | c.301 others(29): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | chr22 | TogoVar | ||||||
CRYBA4_chr22_26616963_26635669 | 26629734 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01884.hp1 HG02280.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056a0001c0001t0001g0066a0001c0001t0001g0068others(9): Show | 12 | 402 | 0.0299 | 14 | c.444 others(29): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRYBB1_chr22_26594278_26623027 | 26607475 | T | TGAGGCCA others(7): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 426 | 0.0024 | 14 | c.432 others(29): Show |
CRYBB1 | ENSG00000100122.7 | transcript | ENST00000647684.1 | protein_coding | 4/5 | chr22 | TogoVar | ||||||
CRYBB1_chr22_26594278_26623027 | 26616260 | G | GAAGGGGG others(7): Show |
frameshift_variant | HIGH | NA19076.hp1 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0171 | 1 | 426 | 0.0024 | 14 | c.59_ others(19): Show |
p.Asp others(4): Show |
CRYBB1 | ENSG00000100122.7 | transcript | ENST00000647684.1 | protein_coding | 2/6 | 129/1041 | 59/759 | 20/252 | chr22 | TogoVar | ||
CRYBB2_chr22_25214639_25236869 | 25218779 | G | GAGAAGAA others(7): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 464 | 0.0022 | 14 | c.-91 others(23): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 859 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25231931 | T | TGTGTGTG others(7): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 464 | 0.0022 | 14 | c.*15 others(23): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 63 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25231931 | T | TGTGTGTG others(7): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02717.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0024a0001c0001t0001g0179others(3): Show | 11 | 464 | 0.0237 | 14 | c.*15 others(23): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 63 | chr22 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106447547 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | NA18946.hp1 NA18974.hp1 |
a0001a0032 | a0001c0001a0032c0045 | a0001c0001t0001a0032c0045t0004 | a0001c0001t0001g0032a0032c0045t0004g0068 | 2 | 272 | 0.0074 | 14 | c.174 others(31): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106483378 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 272 | 0.0037 | 14 | c.313 others(33): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106517435 | C | CACACATA others(7): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02717.hp1 NA20129.hp1 |
a0007a0018 | a0007c0007a0018c0037 | a0007c0007t0003a0018c0037t0001 | a0007c0007t0003g0210a0007c0007t0003g0266a0018c0037t0001g0253 | 3 | 272 | 0.0110 | 14 | c.192 others(33): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106518975 | G | GCACACAC others(7): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0031 | a0031c0048 | a0031c0048t0001 | a0031c0048t0001g0189 | 1 | 272 | 0.0037 | 14 | c.192 others(31): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106535757 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0005 | a0005c0006 | a0005c0006t0008 | a0005c0006t0008g0185 | 1 | 272 | 0.0037 | 14 | c.471 others(33): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG2_chr1_26316865_26359130 | 26333014 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00741.hp2 others(11): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0008others(1): Show | a0001c0001t0001a0002c0002t0001a0006c0008t0001others(1): Show | a0001c0001t0001g0104a0002c0002t0001g0146a0002c0002t0001g0147others(11): Show | 14 | 376 | 0.0372 | 14 | c.418 others(33): Show |
CRYBG2 | ENSG00000176092.17 | transcript | ENST00000308182.10 | protein_coding | 14/19 | chr1 | TogoVar | ||||||
CRYBG3_chr3_97817011_97949984 | 97946586 | G | GTATATAT others(7): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG01106.hp1 others(8): Show |
a0002a0003a0012 | a0002c0001a0002c0007a0003c0002others(1): Show | a0002c0001t0001a0002c0001t0007a0002c0007t0001others(2): Show | a0002c0001t0001g0023a0002c0001t0001g0122a0002c0001t0001g0146others(5): Show | 11 | 316 | 0.0348 | 14 | c.*32 others(25): Show |
CRYBG3 | ENSG00000080200.10 | transcript | ENST00000389622.7 | protein_coding | 1603 | chr3 | TogoVar | ||||||
CRYGN_chr7_151423832_151445141 | 151428290 | C | CTTCTTTT others(7): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG01106.hp1 HG01884.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0013a0001c0001t0001g0100a0001c0001t0002g0021others(4): Show | 9 | 452 | 0.0199 | 14 | c.*17 others(25): Show |
CRYGN | ENSG00000127377.10 | transcript | ENST00000337323.3 | protein_coding | 541 | chr7 | TogoVar | ||||||
CRYGN_chr7_151423832_151445141 | 151441920 | T | TACACACA others(7): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 NA18947.hp2 NA19078.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 3 | 452 | 0.0066 | 14 | c.-20 others(25): Show |
CRYGN | ENSG00000127377.10 | transcript | ENST00000337323.3 | protein_coding | 1780 | chr7 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20420700 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01074.hp2 HG01123.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0003 | a0001c0001t0001g0030a0001c0001t0001g0035a0001c0001t0001g0067others(17): Show | 20 | 250 | 0.0800 | 14 | c.634 others(31): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20420701 | T | TTTTTTTT others(7): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0198 | 1 | 250 | 0.0040 | 14 | c.634 others(31): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20420701 | T | TTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0169 | 1 | 250 | 0.0040 | 14 | c.634 others(31): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 5/7 | chr13 | TogoVar |