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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CROCC_chr1_16916931_16977964 | 16930692 | G | GTCCGAGG others(8): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02129.hp2 HG02451.hp2 others(10): Show |
a0001a0003a0005others(5): Show | a0001c0001a0003c0009a0005c0005others(5): Show | a0001c0001t0001a0003c0009t0002a0005c0005t0002others(6): Show | a0001c0001t0001g0120 a0003c0009t0002g0129 a0005c0005t0002g0016 others(10): Show |
13 | 230 | 0.0565 | 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 | a0001c0002t0002g0171 a0001c0002t0002g0181 a0001c0002t0002g0182 others(2): Show |
5 | 147 | 0.0340 | 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 | 288 | 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 | a0001c0001t0028 | a0001c0001t0028g0016 | 1 | 216 | 0.0046 | 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 | a0001c0001t0095 | a0001c0001t0095g0158 | 1 | 76 | 0.0132 | 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 | a0001c0001t0001g0094 a0001c0001t0001g0175 a0001c0001t0005g0096 others(20): Show |
23 | 109 | 0.2110 | 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 | a0002c0002t0002a0002c0002t0004 | a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0004g0243 |
3 | 184 | 0.0163 | 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 | a0002c0002t0003g0273 a0002c0002t0004g0276 |
2 | 113 | 0.0177 | 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 | a0001c0003t0019g0045 | 1 | 112 | 0.0089 | 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 | 112 | 0.0089 | 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 | a0001c0003t0001g0059 | 1 | 65 | 0.0154 | 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 | 65 | 0.0154 | 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 | a0001c0001t0001g0037 a0001c0001t0002g0036 |
2 | 130 | 0.0154 | 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 | a0001c0001t0001g0104 a0001c0001t0001g0118 a0001c0001t0001g0119 |
3 | 300 | 0.0100 | 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 | a0001c0002t0008g0195 a0001c0004t0005g0011 a0001c0004t0005g0012 others(17): Show |
23 | 400 | 0.0575 | 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 | a0001c0001t0001g0251 | 1 | 97 | 0.0103 | 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 | a0001c0001t0003g0044 | 1 | 91 | 0.0110 | 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 | a0001c0001t0001g0067 a0001c0001t0008g0132 |
2 | 263 | 0.0076 | 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 | a0002c0002t0003g0204 | 1 | 272 | 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 | a0001c0001t0010a0001c0001t0024a0001c0001t0035 | a0001c0001t0010g0030 a0001c0001t0010g0034 a0001c0001t0010g0140 others(2): Show |
5 | 274 | 0.0182 | 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 | a0002c0002t0012 | a0002c0002t0012g0131 a0002c0002t0012g0194 |
2 | 190 | 0.0105 | 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 | a0003c0003t0001 | a0003c0003t0001g0022 | 1 | 274 | 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 | a0003c0003t0001 | a0003c0003t0001g0022 | 1 | 274 | 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 | a0003c0003t0001 | a0003c0003t0001g0022 | 1 | 140 | 0.0071 | 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 | a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0035 others(20): Show |
27 | 308 | 0.0877 | 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 | a0001c0001t0005a0001c0001t0018 | a0001c0001t0005g0008 a0001c0001t0005g0098 a0001c0001t0005g0257 others(4): Show |
7 | 154 | 0.0455 | 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 | a0001c0001t0002g0245 | 1 | 53 | 0.0189 | 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 | 315 | 0.0032 | 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 | a0001c0001t0003g0013 a0001c0001t0003g0193 |
3 | 318 | 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 | a0001c0001t0001g0049 a0001c0001t0001g0065 |
3 | 9 | 0.3333 | 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 | 396 | 0.0025 | 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 | 167 | 0.0060 | 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 | 446 | 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 | 446 | 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 | 462 | 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 | a0067 | a0067c0053 | a0067c0053t0003 | a0067c0053t0003g0225 | 1 | 100 | 0.0100 | 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 | a0001c0001t0001g0016 a0001c0022t0002g0117 a0001c0022t0002g0228 others(86): Show |
89 | 270 | 0.3296 | 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 |
a0001 | a0001c0002a0001c0003a0001c0008others(1): Show | a0001c0002t0001a0001c0003t0002a0001c0008t0001others(1): Show | a0001c0002t0001g0147 a0001c0002t0001g0154 a0001c0002t0001g0171 others(4): Show |
7 | 87 | 0.0805 | 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 | a0001c0001t0004g0123 a0001c0003t0006g0053 a0001c0003t0006g0055 |
3 | 190 | 0.0158 | 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 | a0001c0001t0001g0039 a0001c0001t0001g0056 a0001c0001t0001g0057 others(24): Show |
27 | 138 | 0.1957 | 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 | a0001c0002t0001g0074 a0001c0002t0001g0090 |
2 | 157 | 0.0127 | 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 | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0151 others(15): Show |
18 | 101 | 0.1782 | 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 | 72 | 0.0139 | 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 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0002g0149 a0001c0001t0002g0167 a0001c0001t0004g0085 others(2): Show |
5 | 189 | 0.0265 | 15 | c.-12 others(34): Show |
CSDC2 | ENSG00000172346.15 | transcript | ENST00000306149.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CSE1L_chr20_49041312_49101949 | 49047564 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01346.hp2 HG01891.hp1 others(10): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0003c0007t0001 | a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0340 others(10): Show |
13 | 74 | 0.1757 | 15 | c.-12 others(32): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CSE1L_chr20_49041312_49101949 | 49050200 | T | TTTTTATT others(8): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 a0001c0001t0001g0134 |
2 | 280 | 0.0071 | 15 | c.-12 others(32): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CSE1L_chr20_49041312_49101949 | 49097938 | A | ATTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0223 a0001c0001t0002g0234 |
2 | 39 | 0.0513 | 15 | c.*15 others(26): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 990 | chr20 | TogoVar | |||||||
CSF1R_chr5_150048295_150091554 | 150084392 | A | AAAGAAAG others(8): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0333 | 1 | 402 | 0.0025 | 15 | c.49+ others(30): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | |||||||
CSF1R_chr5_150048295_150091554 | 150085277 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0235 | 1 | 111 | 0.0090 | 15 | c.49+ others(30): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1280961 | C | CCTTCTCC others(8): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03139.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0008 a0002c0003t0001g0009 |
2 | 152 | 0.0132 | 15 | c.-26 others(32): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar |