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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CROCC_chr1_16916931_16977964 | 16971210 | AGTGTGTG others(9): Show |
A | intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 232 | 0.0043 | -16 | c.578 others(33): Show |
CROCC | ENSG00000058453.17 | transcript | ENST00000375541.10 | protein_coding | 35/36 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CRPPA_chr7_16082525_16426538 | 16254776 | AGAAAGAA others(9): Show |
A | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0018 | 1 | 290 | 0.0035 | -16 | c.111 others(35): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 8/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16352879 | GCACACAC others(9): Show |
G | intron_variant | MODIFIER | HG02559.hp1 HG02809.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0025a0001c0001t0057 | a0001c0001t0011g0050a0001c0001t0025g0049a0001c0001t0057g0048 | 3 | 290 | 0.0103 | -16 | c.684 others(35): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 3/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16385832 | ACACTCAA others(9): Show |
A | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0082 | 1 | 290 | 0.0035 | -16 | c.535 others(33): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16387044 | GATATATA others(9): Show |
G | intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0087 | a0001c0001t0087g0071 | 1 | 290 | 0.0035 | -16 | c.535 others(35): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16387072 | TATATATA others(9): Show |
T | intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0002 | a0002c0002t0048 | a0002c0002t0048g0215 | 1 | 290 | 0.0035 | -16 | c.535 others(35): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16387074 | TATATATA others(9): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG01256.hp2 HG01257.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(8): Show | a0001c0001t0003g0038a0001c0001t0004g0135a0001c0001t0012g0045others(8): Show | 11 | 290 | 0.0379 | -16 | c.535 others(35): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16387087 | ACACACAT others(9): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG02055.hp2 HG02145.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0026a0001c0001t0029others(4): Show | a0001c0001t0017g0013a0001c0001t0026g0015a0001c0001t0029g0017others(5): Show | 8 | 290 | 0.0276 | -16 | c.535 others(35): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 97894711 | CATATATA others(9): Show |
C | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 204 | 0.0049 | -16 | c.148 others(33): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 11/14 | chr10 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 98002761 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG02258.hp1 HG02280.hp2 others(10): Show |
a0001 | a0001c0001a0001c0010a0001c0013 | a0001c0001t0001a0001c0010t0001a0001c0013t0001 | a0001c0001t0001g0005a0001c0001t0001g0081a0001c0001t0001g0087others(10): Show | 13 | 204 | 0.0637 | -16 | c.224 others(33): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | ||||||
CRTAM_chr11_122833500_122877643 | 122837704 | AATGGATG others(9): Show |
A | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02165.hp1 HG02895.hp2 others(6): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0002a0001c0005t0001a0002c0002t0006others(4): Show | a0001c0001t0002g0263a0001c0005t0001g0015a0001c0005t0001g0347others(5): Show | 9 | 428 | 0.0210 | -16 | c.-84 others(25): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 795 | chr11 | TogoVar | ||||||
CRTAM_chr11_122833500_122877643 | 122837743 | GGATGGAT others(9): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(111): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(93): Show | 114 | 428 | 0.2664 | -16 | c.-80 others(25): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 756 | chr11 | TogoVar | ||||||
CRTAM_chr11_122833500_122877643 | 122861408 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 428 | 0.0023 | -16 | c.653 others(33): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CRTAM_chr11_122833500_122877643 | 122861412 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0042 | 1 | 428 | 0.0023 | -16 | c.653 others(33): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CRTC1_chr19_18678680_18787333 | 18706182 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0147 | 1 | 274 | 0.0037 | -16 | c.126 others(35): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90556958 | CTATATAT others(9): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01255.hp2 HG02258.hp2 others(8): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0017others(2): Show | a0001c0001t0001g0044a0001c0001t0001g0059a0001c0001t0001g0127others(8): Show | 11 | 276 | 0.0399 | -16 | c.231 others(35): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90607030 | AGCCACAG others(9): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(179): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0007others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(34): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(176): Show | 182 | 276 | 0.6594 | -16 | c.477 others(31): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90630756 | ATTTTTTT others(9): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG02809.hp1 HG02976.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0001c0001t0037a0001c0001t0046others(1): Show | a0001c0001t0011g0030a0001c0001t0011g0034a0001c0001t0011g0140others(3): Show | 6 | 276 | 0.0217 | -16 | c.126 others(35): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90647647 | CCCTCCTC others(9): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(100): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0006others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(37): Show | a0001c0001t0002g0040a0001c0001t0002g0054a0001c0001t0002g0063others(100): Show | 103 | 276 | 0.3732 | -16 | c.*55 others(27): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2303 | chr15 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647688 | ACACCCCT others(9): Show |
A | downstream_gene_variant | MODIFIER | HG01346.hp1 HG02257.hp2 HG02559.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0012a0002c0002t0015a0002c0002t0047 | a0002c0002t0012g0138a0002c0002t0015g0026a0002c0002t0015g0196others(1): Show | 4 | 276 | 0.0145 | -16 | c.*55 others(27): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2344 | chr15 | TogoVar | ||||||
CRX_chr19_47816937_47848324 | 47828893 | AACACACA others(9): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00639.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0019a0001c0001t0025others(3): Show | a0001c0001t0005g0021a0001c0001t0005g0026a0001c0001t0005g0105others(16): Show | 20 | 344 | 0.0581 | -16 | c.-35 others(33): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRX_chr19_47816937_47848324 | 47829285 | TTTGTATT others(9): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG01358.hp1 others(15): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0006 | a0001c0001t0006a0001c0001t0018a0001c0001t0025others(6): Show | a0001c0001t0006g0014a0001c0001t0006g0097a0001c0001t0006g0110others(12): Show | 18 | 344 | 0.0523 | -16 | c.-35 others(33): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRY1_chr12_106986364_107098549 | 107009587 | TATATATA others(9): Show |
T | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 320 | 0.0031 | -16 | c.268 others(33): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 2/12 | chr12 | TogoVar | ||||||
CRY2_chr11_45842475_45888244 | 45844933 | AAAAAAAA others(9): Show |
A | upstream_gene_variant | MODIFIER | HG01123.hp2 HG01943.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187a0001c0001t0001g0199 | 2 | 368 | 0.0054 | -16 | c.-25 others(27): Show |
CRY2 | ENSG00000121671.12 | transcript | ENST00000616080.2 | protein_coding | 2541 | chr11 | TogoVar | ||||||
CRYBA4_chr22_26616963_26635669 | 26627359 | CCTTTCTT others(9): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG01981.hp1 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106a0001c0001t0001g0212a0001c0001t0001g0213 | 3 | 402 | 0.0075 | -16 | c.301 others(31): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRYBA4_chr22_26616963_26635669 | 26627488 | TTTTCTTT others(9): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG02280.hp2 HG02922.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106a0001c0001t0001g0224a0001c0001t0001g0279others(4): Show | 7 | 402 | 0.0174 | -16 | c.301 others(31): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRYBB2_chr22_25214639_25236869 | 25218726 | GAGAGAGA others(9): Show |
G | upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0093 | 1 | 464 | 0.0022 | -16 | c.-96 others(25): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 912 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218732 | GAGGGGAG others(9): Show |
G | upstream_gene_variant | MODIFIER | HG00423.hp1 HG01168.hp1 HG02027.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0020a0001c0001t0001g0045others(2): Show | 8 | 464 | 0.0172 | -16 | c.-96 others(25): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 906 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218736 | GGAGAGAG others(9): Show |
G | upstream_gene_variant | MODIFIER | HG00609.hp2 HG01123.hp1 HG01261.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0011others(4): Show | 9 | 464 | 0.0194 | -16 | c.-95 others(25): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 902 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218775 | GAGAGAAG others(9): Show |
G | upstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 | 1 | 464 | 0.0022 | -16 | c.-91 others(25): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 863 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218779 | GAAGAAAG others(9): Show |
G | upstream_gene_variant | MODIFIER | NA18954.hp2 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0048 | 2 | 464 | 0.0043 | -16 | c.-91 others(25): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 859 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25226168 | CTGTGTGT others(9): Show |
C | intron_variant | MODIFIER | HG03704.hp2 NA18959.hp2 NA18963.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0070a0001c0001t0001g0095others(3): Show | 9 | 464 | 0.0194 | -16 | c.173 others(33): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106358171 | TTTTATAT others(9): Show |
T | upstream_gene_variant | MODIFIER | HG01106.hp1 HG02004.hp2 HG03669.hp1 others(1): Show |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0008c0010t0001a0008c0010t0004 | a0001c0001t0001g0025a0001c0001t0001g0071a0008c0010t0001g0021others(1): Show | 4 | 272 | 0.0147 | -16 | c.-27 others(27): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2545 | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106358205 | ATATATAT others(9): Show |
A | upstream_gene_variant | MODIFIER | NA18973.hp2 NA19009.hp2 NA20805.hp2 others(1): Show |
a0001a0011a0048 | a0001c0001a0001c0022a0011c0014others(1): Show | a0001c0001t0004a0001c0022t0002a0011c0014t0001others(1): Show | a0001c0001t0004g0168a0001c0022t0002g0126a0011c0014t0001g0180others(1): Show | 4 | 272 | 0.0147 | -16 | c.-27 others(27): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2511 | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106375409 | GTAAGTAA others(9): Show |
G | intron_variant | MODIFIER | HG01516.hp2 HG02922.hp2 HG03239.hp2 others(1): Show |
a0024a0066a0068 | a0024c0027a0066c0080a0068c0078 | a0024c0027t0004a0066c0080t0001a0068c0078t0002 | a0024c0027t0004g0008a0024c0027t0004g0078a0066c0080t0001g0009others(1): Show | 4 | 272 | 0.0147 | -16 | c.173 others(35): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106391956 | TGTGTGTG others(9): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00438.hp2 others(56): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0009a0002c0003others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0001g0001a0001c0001t0001g0035a0001c0001t0001g0041others(56): Show | 59 | 272 | 0.2169 | -16 | c.173 others(35): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106433743 | ATGTATAT others(9): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG01243.hp2 others(22): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0003a0002c0011others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(14): Show | a0001c0001t0001g0061a0001c0001t0001g0121a0001c0001t0001g0258others(22): Show | 25 | 272 | 0.0919 | -16 | c.174 others(35): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106517343 | CACACACA others(9): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG00738.hp2 others(35): Show |
a0004a0008a0015others(7): Show | a0004c0004a0004c0057a0004c0069others(9): Show | a0004c0004t0002a0004c0004t0017a0004c0057t0002others(13): Show | a0004c0004t0002g0017a0004c0004t0002g0040a0004c0004t0002g0069others(35): Show | 38 | 272 | 0.1397 | -16 | c.192 others(35): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106552582 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG02572.hp1 | a0036 | a0036c0050 | a0036c0050t0003 | a0036c0050t0003g0190 | 1 | 272 | 0.0037 | -16 | c.547 others(33): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYL1_chr13_20398669_20530857 | 20462170 | CAGGACGA others(9): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(233): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0033others(232): Show | 236 | 250 | 0.9440 | -16 | c.277 others(35): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 3/7 | chr13 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20508860 | AAAAAAAA others(9): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02451.hp2 HG02622.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0213a0001c0001t0001g0234a0001c0001t0002g0233others(2): Show | 5 | 250 | 0.0200 | -16 | c.149 others(33): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 2/7 | chr13 | TogoVar | ||||||
CSAG2_chrX_152703261_152714273 | 152709589 | GAGAGAGA others(9): Show |
G | upstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 211 | 0.0047 | -16 | c.-49 others(25): Show |
CSAG2 | ENSG00000268902.4 | transcript | ENST00000638741.2 | protein_coding | 317 | chrX | TogoVar | ||||||
CSDC2_chr22_41556010_41581666 | 41572343 | TCCACCCA others(9): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(58): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0004a0001c0001t0001g0072a0001c0001t0001g0097others(46): Show | 61 | 288 | 0.2118 | -16 | c.176 others(31): Show |
CSDC2 | ENSG00000172346.15 | transcript | ENST00000306149.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CSDC2_chr22_41556010_41581666 | 41572375 | CCCACCCA others(9): Show |
C | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0188 | 1 | 288 | 0.0035 | -16 | c.176 others(31): Show |
CSDC2 | ENSG00000172346.15 | transcript | ENST00000306149.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CSE1L_chr20_49041312_49101949 | 49047564 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG00738.hp2 HG01934.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243a0001c0001t0001g0244a0001c0001t0001g0245others(19): Show | 22 | 386 | 0.0570 | -16 | c.-12 others(33): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CSE1L_chr20_49041312_49101949 | 49053347 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 386 | 0.0026 | -16 | c.-11 others(33): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CSE1L_chr20_49041312_49101949 | 49074176 | AGTGTGTG others(9): Show |
A | intron_variant | MODIFIER | HG06807.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120a0001c0001t0001g0121 | 2 | 386 | 0.0052 | -16 | c.106 others(33): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CSE1L_chr20_49041312_49101949 | 49100467 | CTTTATTT others(9): Show |
C | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG01891.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0003a0001c0001t0002g0096a0001c0001t0002g0222others(16): Show | 20 | 386 | 0.0518 | -16 | c.*40 others(27): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 3519 | chr20 | TogoVar | ||||||
CSF1R_chr5_150048295_150091554 | 150076321 | CCTATCTA others(9): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00673.hp1 HG02148.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(5): Show | a0001c0001t0001g0102a0001c0001t0001g0186a0001c0001t0002g0057others(12): Show | 15 | 406 | 0.0370 | -16 | c.889 others(31): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 5/20 | chr5 | TogoVar | ||||||
CSF1R_chr5_150048295_150091554 | 150084390 | AGAAGGAA others(9): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG03453.hp1 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0002c0003t0001 | a0001c0001t0004g0227a0002c0003t0001g0179a0002c0003t0001g0180 | 3 | 406 | 0.0074 | -16 | c.49+ others(31): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar |