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 | 5837650 | T | TAATAAAA others(8): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0281 | 1 | 314 | 0.0032 | 15 | c.131 others(32): Show |
CRMP1 | ENSG00000072832.15 | transcript | ENST00000324989.12 | protein_coding | 9/13 | chr4 | TogoVar | ||||||
CRMP1_chr4_5815764_5898086 | 5851754 | A | AAGGAGGA others(8): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0148 | 1 | 314 | 0.0032 | 15 | c.821 others(30): Show |
CRMP1 | ENSG00000072832.15 | transcript | ENST00000324989.12 | protein_coding | 4/13 | chr4 | TogoVar | ||||||
CRNKL1_chr20_20029368_20057466 | 20029881 | T | TTTTTGTT others(8): Show |
downstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0091 | 1 | 428 | 0.0023 | 15 | c.*62 others(26): Show |
CRNKL1 | ENSG00000101343.15 | transcript | ENST00000536226.2 | protein_coding | 4486 | chr20 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240928420 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0009 | a0009c0010 | a0009c0010t0003 | a0009c0010t0003g0219 | 1 | 350 | 0.0029 | 15 | c.646 others(32): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 5/31 | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240985466 | A | ACCCAGAC others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(87): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0020a0002c0002others(36): Show | a0001c0001t0003a0001c0001t0004a0001c0020t0001others(40): Show | a0001c0001t0003g0003a0001c0001t0003g0140a0001c0001t0003g0141others(86): Show | 90 | 350 | 0.2571 | 15 | c.455 others(34): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240990570 | G | GTGTTTTG others(8): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02976.hp2 |
a0002a0015 | a0002c0002a0015c0016 | a0002c0002t0001a0015c0016t0001 | a0002c0002t0001g0125a0015c0016t0001g0070 | 2 | 350 | 0.0057 | 15 | c.486 others(32): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC_chr1_16916931_16977964 | 16930692 | G | GTCCGAGG others(8): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02129.hp2 HG02451.hp2 others(10): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0009a0004c0005others(5): Show | a0001c0001t0001a0002c0009t0002a0004c0005t0002others(6): Show | a0001c0001t0001g0119a0002c0009t0002g0128a0004c0005t0002g0017others(10): Show | 13 | 232 | 0.0560 | 15 | c.849 others(30): Show |
CROCC | ENSG00000058453.17 | transcript | ENST00000375541.10 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CROCC_chr1_16916931_16977964 | 16947468 | C | CAATAATA others(8): Show |
intron_variant | MODIFIER | HG03669.hp1 NA18982.hp2 NA18990.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0170a0001c0002t0002g0180a0001c0002t0002g0181others(2): Show | 5 | 232 | 0.0216 | 15 | c.251 others(32): Show |
CROCC | ENSG00000058453.17 | transcript | ENST00000375541.10 | protein_coding | 17/36 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CRPPA_chr7_16082525_16426538 | 16254782 | A | AAAGAAAG others(8): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0002 | a0002c0002t0025 | a0002c0002t0025g0214 | 1 | 290 | 0.0035 | 15 | c.111 others(34): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 8/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16286020 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0017 | 1 | 290 | 0.0035 | 15 | c.836 others(32): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 5/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16286097 | A | AAAAATAT others(8): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0098 | a0001c0001t0098g0158 | 1 | 290 | 0.0035 | 15 | c.836 others(32): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 5/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16303477 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01978.hp1 HG01993.hp2 HG02717.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(12): Show | a0001c0001t0001g0094a0001c0001t0001g0183a0001c0001t0005g0096others(20): Show | 23 | 290 | 0.0793 | 15 | c.790 others(32): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 4/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16389913 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02071.hp1 NA18950.hp1 NA18953.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0004a0002c0002t0078 | a0002c0002t0002g0227a0002c0002t0004g0244a0002c0002t0078g0228 | 3 | 290 | 0.0103 | 15 | c.535 others(34): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16389928 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03492.hp1 HG03492.hp2 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0004 | a0002c0002t0003g0274a0002c0002t0004g0277 | 2 | 290 | 0.0069 | 15 | c.535 others(34): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16389928 | A | AAAAAAAT others(8): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0003 | a0001c0003t0019 | a0001c0003t0019g0046 | 1 | 290 | 0.0035 | 15 | c.535 others(34): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16389928 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144 | 1 | 290 | 0.0035 | 15 | c.535 others(34): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 98005100 | A | ATATTTTT others(8): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0060 | 1 | 204 | 0.0049 | 15 | c.224 others(32): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 98005100 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 204 | 0.0049 | 15 | c.224 others(32): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 98029491 | A | AGCGGCGG others(8): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0038a0001c0001t0002g0037 | 2 | 204 | 0.0098 | 15 | c.24+ others(28): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 1/14 | chr10 | TogoVar | ||||||
CRTAM_chr11_122833500_122877643 | 122875438 | A | ATATATAT others(8): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 NA18949.hp2 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119a0001c0001t0001g0128a0001c0001t0001g0129 | 3 | 428 | 0.0070 | 15 | c.*40 others(26): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 2796 | chr11 | TogoVar | ||||||
CRTAP_chr3_33109014_33152773 | 33121411 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01109.hp2 HG01243.hp2 others(20): Show |
a0001a0004a0005 | a0001c0002a0001c0004a0001c0010others(2): Show | a0001c0002t0008a0001c0004t0005a0001c0004t0019others(8): Show | a0001c0002t0008g0203a0001c0004t0005g0008a0001c0004t0005g0009others(17): Show | 23 | 408 | 0.0564 | 15 | c.621 others(30): Show |
CRTAP | ENSG00000170275.15 | transcript | ENST00000320954.11 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CRTC1_chr19_18678680_18787333 | 18727580 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 274 | 0.0037 | 15 | c.127 others(34): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRTC1_chr19_18678680_18787333 | 18728815 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0052 | 1 | 274 | 0.0037 | 15 | c.127 others(34): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRTC1_chr19_18678680_18787333 | 18737742 | C | CCTCCTCC others(8): Show |
intron_variant | MODIFIER | HG01993.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0085a0001c0001t0008g0134 | 2 | 274 | 0.0073 | 15 | c.127 others(32): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRTC1_chr19_18678680_18787333 | 18747275 | A | AGGAGTTC others(8): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0202 | 1 | 274 | 0.0037 | 15 | c.443 others(30): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90622817 | C | CCACAGTG others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01496.hp2 HG02809.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0025a0001c0001t0037 | a0001c0001t0011g0030a0001c0001t0011g0034a0001c0001t0011g0140others(2): Show | 5 | 276 | 0.0181 | 15 | c.750 others(32): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 9/14 | chr15 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90638145 | T | TAAAACAA others(8): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02896.hp2 |
a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0131a0002c0002t0013g0194 | 2 | 276 | 0.0073 | 15 | c.126 others(32): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90639426 | A | AGGGTTGA others(8): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0003 | a0003c0003 | a0003c0003t0027 | a0003c0003t0027g0022 | 1 | 276 | 0.0036 | 15 | c.154 others(32): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90647288 | C | CCCCTCCT others(8): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 | a0003 | a0003c0003 | a0003c0003t0027 | a0003c0003t0027g0022 | 1 | 276 | 0.0036 | 15 | c.*51 others(26): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1944 | chr15 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647359 | A | ATCCTCTC others(8): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 | a0003 | a0003c0003 | a0003c0003t0027 | a0003c0003t0027g0022 | 1 | 276 | 0.0036 | 15 | c.*52 others(26): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2015 | chr15 | TogoVar | ||||||
CRX_chr19_47816937_47848324 | 47825765 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01074.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0001g0023a0001c0001t0001g0031a0001c0001t0001g0035others(22): Show | 27 | 344 | 0.0785 | 15 | c.-36 others(32): 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(8): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00639.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0019 | a0001c0001t0005g0021a0001c0001t0005g0105a0001c0001t0005g0278others(4): Show | 7 | 344 | 0.0204 | 15 | c.*46 others(26): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 1251 | chr19 | TogoVar | ||||||
CRY1_chr12_106986364_107098549 | 106998659 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0277 | 1 | 320 | 0.0031 | 15 | c.113 others(32): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 7/12 | chr12 | TogoVar | ||||||
CRY1_chr12_106986364_107098549 | 107069574 | G | GTATATAT others(8): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0192 | 1 | 320 | 0.0031 | 15 | c.158 others(34): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
CRY1_chr12_106986364_107098549 | 107069620 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02723.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0193a0001c0001t0003g0224a0001c0001t0003g0225 | 3 | 320 | 0.0094 | 15 | c.158 others(34): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
CRYBA4_chr22_26616963_26635669 | 26629734 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02738.hp2 HG02896.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071a0001c0001t0001g0293a0001c0001t0001g0294 | 3 | 402 | 0.0075 | 15 | c.444 others(30): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRYBB2_chr22_25214639_25236869 | 25218777 | G | GAGAAGAA others(8): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009 | 1 | 464 | 0.0022 | 15 | c.-91 others(24): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 861 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218779 | G | GAAAGAAA others(8): Show |
upstream_gene_variant | MODIFIER | NA18950.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0139 | 1 | 464 | 0.0022 | 15 | c.-91 others(24): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 859 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218780 | A | AAAGAAAG others(8): Show |
upstream_gene_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 464 | 0.0022 | 15 | c.-91 others(24): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 858 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218780 | A | AGAGAAAG others(8): Show |
upstream_gene_variant | MODIFIER | NA18952.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0006 | 1 | 464 | 0.0022 | 15 | c.-91 others(24): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 858 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218857 | A | AGAAAGAA others(8): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0066 | 1 | 464 | 0.0022 | 15 | c.-83 others(24): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 781 | chr22 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106422344 | A | ATTTATTT others(8): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0045 | a0045c0053 | a0045c0053t0003 | a0045c0053t0003g0227 | 1 | 272 | 0.0037 | 15 | c.174 others(34): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106534350 | T | TGTCATTA others(8): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00733.hp1 others(86): Show |
a0001a0002a0004others(25): Show | a0001c0001a0001c0022a0002c0003others(30): Show | a0001c0001t0001a0001c0022t0002a0002c0003t0001others(40): Show | a0001c0001t0001g0016a0001c0022t0002g0126a0001c0022t0002g0212others(86): Show | 89 | 272 | 0.3272 | 15 | c.471 others(34): 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(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG01516.hp1 others(4): Show |
a0002a0003a0006others(1): Show | a0002c0002a0003c0003a0006c0008others(1): Show | a0002c0002t0001a0003c0003t0002a0006c0008t0001others(1): Show | a0002c0002t0001g0149a0002c0002t0001g0156a0002c0002t0001g0173others(4): Show | 7 | 376 | 0.0186 | 15 | c.418 others(34): Show |
CRYBG2 | ENSG00000176092.17 | transcript | ENST00000308182.10 | protein_coding | 14/19 | chr1 | TogoVar | ||||||
CRYGN_chr7_151423832_151445141 | 151428290 | C | CTTCTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 HG03195.hp1 HG03516.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0006 | a0001c0001t0004g0123a0001c0003t0006g0053a0001c0003t0006g0055 | 3 | 452 | 0.0066 | 15 | c.*17 others(26): Show |
CRYGN | ENSG00000127377.10 | transcript | ENST00000337323.3 | protein_coding | 541 | chr7 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20420700 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01346.hp2 HG01884.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0033a0001c0001t0001g0057a0001c0001t0001g0058others(24): Show | 27 | 250 | 0.1080 | 15 | c.634 others(32): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20485685 | T | TAGAAAAG others(8): Show |
intron_variant | MODIFIER | HG03453.hp2 NA19240.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0072a0001c0002t0001g0090 | 2 | 250 | 0.0080 | 15 | c.276 others(32): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 3/7 | chr13 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20505359 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00609.hp2 others(15): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0149others(15): Show | 18 | 250 | 0.0720 | 15 | c.149 others(32): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 2/7 | chr13 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20522911 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 250 | 0.0040 | 15 | c.41+ others(30): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 1/7 | chr13 | TogoVar | ||||||
CSDC2_chr22_41556010_41581666 | 41568134 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02818.hp1 HG02818.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021a0001c0001t0036others(1): Show | a0001c0001t0002g0153a0001c0001t0002g0174a0001c0001t0021g0118others(2): Show | 5 | 288 | 0.0174 | 15 | c.-12 others(34): Show |
CSDC2 | ENSG00000172346.15 | transcript | ENST00000306149.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |