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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRPPA_chr7_16082525_16426538 | 16389928 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0250 | 1 | 112 | 0.0089 | 17 | c.535 others(36): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | |||||||
CRPPA_chr7_16082525_16426538 | 16389928 | A | AAAAAAAT others(10): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 | 1 | 112 | 0.0089 | 17 | c.535 others(36): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | |||||||
CRPPA_chr7_16082525_16426538 | 16389928 | A | AAATATAT others(10): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0084 | a0001c0001t0084g0052 | 1 | 112 | 0.0089 | 17 | c.535 others(36): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | |||||||
CRTAP_chr3_33109014_33152773 | 33121411 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02809.hp1 NA20300.hp2 |
a0001 | a0001c0007 | a0001c0007t0018 | a0001c0007t0018g0032 a0001c0007t0018g0256 |
3 | 380 | 0.0079 | 17 | c.621 others(32): Show |
CRTAP | ENSG00000170275.15 | transcript | ENST00000320954.11 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CRTAP_chr3_33109014_33152773 | 33143649 | A | ATGTAGTG others(10): Show |
3_prime_UTR_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0080 | a0001c0001t0080g0001 | 1 | 406 | 0.0025 | 17 | c.*12 others(28): Show |
CRTAP | ENSG00000170275.15 | transcript | ENST00000320954.11 | protein_coding | 7/7 | 1221 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90567691 | A | ATAAATAA others(10): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 120 | 0.0083 | 17 | c.232 others(36): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2/14 | chr15 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90613104 | G | GCGGGGGA others(10): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02559.hp1 HG02615.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0011a0002c0002t0014 | a0002c0002t0011g0136 a0002c0002t0011g0138 a0002c0002t0014g0026 others(1): Show |
4 | 198 | 0.0202 | 17 | c.578 others(34): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90613104 | G | GCGGGGGA others(10): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00597.hp1 others(73): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(39): Show | a0001c0001t0001g0223 a0001c0001t0003g0016 a0001c0001t0003g0017 others(73): Show |
76 | 270 | 0.2815 | 17 | c.578 others(34): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90635652 | A | ACTCTGTC others(10): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0002 | a0002c0002t0031 | a0002c0002t0031g0025 | 1 | 274 | 0.0036 | 17 | c.126 others(36): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CRX_chr19_47816937_47848324 | 47844574 | A | ATTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01243.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0018a0001c0001t0064 | a0001c0001t0005g0030 a0001c0001t0005g0099 a0001c0001t0005g0264 others(3): Show |
6 | 153 | 0.0392 | 17 | c.*46 others(28): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 1251 | chr19 | TogoVar | |||||||
CRY1_chr12_106986364_107098549 | 106998659 | A | ACACACAC others(10): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0266 | 1 | 53 | 0.0189 | 17 | c.113 others(34): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 7/12 | chr12 | TogoVar | |||||||
CRY2_chr11_45842475_45888244 | 45847200 | C | CGCGGACA others(10): Show |
upstream_gene_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 366 | 0.0027 | 17 | c.-29 others(26): Show |
CRY2 | ENSG00000121671.12 | transcript | ENST00000616080.2 | protein_coding | 274 | chr11 | TogoVar | |||||||
CRY2_chr11_45842475_45888244 | 45875811 | G | GCATCCTC others(10): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0097 | 1 | 366 | 0.0027 | 17 | c.*2+ others(32): Show |
CRY2 | ENSG00000121671.12 | transcript | ENST00000616080.2 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CRYBA4_chr22_26616963_26635669 | 26618485 | T | TTTTCTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 HG01167.hp2 HG01169.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0019 others(6): Show |
23 | 400 | 0.0575 | 17 | c.-35 others(28): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 3477 | chr22 | TogoVar | |||||||
CRYBA4_chr22_26616963_26635669 | 26619135 | C | CAGAAGGT others(10): Show |
upstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 400 | 0.0025 | 17 | c.-28 others(28): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 2827 | chr22 | TogoVar | |||||||
CRYBB1_chr22_26594278_26623027 | 26618485 | T | TTTTCTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG01167.hp2 HG01169.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0031 a0001c0001t0001g0033 others(6): Show |
22 | 424 | 0.0519 | 17 | c.-52 others(26): Show |
CRYBB1 | ENSG00000100122.7 | transcript | ENST00000647684.1 | protein_coding | 459 | chr22 | TogoVar | |||||||
CRYBB1_chr22_26594278_26623027 | 26619135 | C | CAGAAGGT others(10): Show |
upstream_gene_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 424 | 0.0024 | 17 | c.-11 others(28): Show |
CRYBB1 | ENSG00000100122.7 | transcript | ENST00000647684.1 | protein_coding | 1109 | chr22 | TogoVar | |||||||
CRYBG1_chr6_106355717_106577017 | 106377621 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0003 | a0002c0003t0010 | a0002c0003t0010g0262 | 1 | 220 | 0.0045 | 17 | c.173 others(36): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | chr6 | TogoVar | |||||||
CRYBG1_chr6_106355717_106577017 | 106438607 | T | TAATCCAT others(10): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0054 | a0054c0079 | a0054c0079t0002 | a0054c0079t0002g0006 | 1 | 270 | 0.0037 | 17 | c.174 others(36): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106492676 | T | TATCATAT others(10): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02257.hp2 HG02647.hp2 others(5): Show |
a0003a0010a0011others(3): Show | a0003c0038a0010c0012a0011c0015others(4): Show | a0003c0038t0007a0010c0012t0002a0011c0015t0003others(4): Show | a0003c0038t0007g0135 a0010c0012t0002g0272 a0011c0015t0003g0240 others(5): Show |
8 | 270 | 0.0296 | 17 | c.313 others(36): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106535757 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0005 | a0005c0008 | a0005c0008t0003 | a0005c0008t0003g0187 | 1 | 253 | 0.0040 | 17 | c.471 others(36): 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(10): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01346.hp2 HG02572.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0149 a0001c0002t0001g0174 a0001c0002t0001g0300 |
3 | 83 | 0.0361 | 17 | c.418 others(36): Show |
CRYBG2 | ENSG00000176092.17 | transcript | ENST00000308182.10 | protein_coding | 14/19 | chr1 | TogoVar | |||||||
CRYGN_chr7_151423832_151445141 | 151428290 | C | CTTCTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG02615.hp2 HG02818.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0004 a0001c0001t0003g0005 a0001c0001t0004g0012 others(2): Show |
6 | 193 | 0.0311 | 17 | c.*17 others(28): Show |
CRYGN | ENSG00000127377.10 | transcript | ENST00000337323.3 | protein_coding | 541 | chr7 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20420700 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01167.hp1 HG01258.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0038 a0001c0001t0001g0112 a0001c0001t0001g0142 others(8): Show |
11 | 122 | 0.0902 | 17 | c.634 others(34): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20420701 | T | TTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01175.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0166 a0001c0001t0001g0188 a0001c0003t0001g0020 others(1): Show |
4 | 154 | 0.0260 | 17 | c.634 others(34): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20505359 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG04115.hp2 NA18953.hp2 NA18963.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0067 others(2): Show |
5 | 88 | 0.0568 | 17 | c.149 others(34): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
CSAD_chr12_53152663_53185925 | 53184114 | G | GTGTGTGT others(10): Show |
upstream_gene_variant | MODIFIER | HG02523.hp1 HG02647.hp2 HG04228.hp2 |
a0001a0004 | a0001c0001a0004c0011 | a0001c0001t0001a0004c0011t0001 | a0001c0001t0001g0001 a0001c0001t0001g0101 a0004c0011t0001g0117 |
3 | 202 | 0.0149 | 17 | c.-34 others(28): Show |
CSAD | ENSG00000139631.20 | transcript | ENST00000444623.6 | protein_coding | 3190 | chr12 | TogoVar | |||||||
CSAG2_chrX_152703261_152714273 | 152709601 | A | AGAAAGAG others(10): Show |
upstream_gene_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 131 | 0.0076 | 17 | c.-49 others(26): Show |
CSAG2 | ENSG00000268902.4 | transcript | ENST00000638741.2 | protein_coding | 329 | chrX | TogoVar | |||||||
CSAG2_chrX_152703261_152714273 | 152709632 | A | AGAGAGAG others(10): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 209 | 0.0048 | 17 | c.-52 others(26): Show |
CSAG2 | ENSG00000268902.4 | transcript | ENST00000638741.2 | protein_coding | 360 | chrX | TogoVar | |||||||
CSDC2_chr22_41556010_41581666 | 41568134 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0088 | 1 | 185 | 0.0054 | 17 | c.-12 others(36): 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(10): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02735.hp2 HG02818.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0356 others(4): Show |
7 | 68 | 0.1029 | 17 | c.-12 others(34): 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(10): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 256 | 0.0039 | 17 | c.229 others(32): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CSE1L_chr20_49041312_49101949 | 49097938 | A | ATTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 a0001c0001t0002g0236 |
2 | 39 | 0.0513 | 17 | c.*15 others(28): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 990 | chr20 | TogoVar | |||||||
CSF1R_chr5_150048295_150091554 | 150085277 | G | GAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01069.hp2 HG01099.hp2 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0002a0001c0001t0007a0001c0002t0001others(11): Show | a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0261 others(19): Show |
23 | 133 | 0.1729 | 17 | c.49+ others(32): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1281079 | T | TCCTTCTC others(10): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02559.hp1 others(10): Show |
a0001a0002a0004 | a0001c0005a0002c0003a0002c0004others(3): Show | a0001c0005t0005a0002c0003t0001a0002c0003t0002others(5): Show | a0001c0005t0005g0010 a0001c0005t0005g0137 a0002c0003t0001g0008 others(10): Show |
13 | 157 | 0.0828 | 17 | c.-26 others(34): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1282031 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 15 | 0.0667 | 17 | c.-26 others(32): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1294453 | C | CACAGAAA others(10): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02622.hp2 HG02886.hp2 |
a0004a0007 | a0004c0010a0007c0014 | a0004c0010t0003a0004c0010t0006a0007c0014t0009 | a0004c0010t0003g0159 a0004c0010t0006g0031 a0007c0014t0009g0017 |
3 | 157 | 0.0191 | 17 | c.774 others(27): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1314378 | T | TGCACCTG others(10): Show |
downstream_gene_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 149 | 0.0067 | 17 | c.*48 others(28): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4444 | chrX | TogoVar | |||||||
CSF3_chr17_40010440_40022813 | 40013783 | C | CTGGGCCA others(10): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 HG03579.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0005 | 2 | 432 | 0.0046 | 17 | c.-16 others(28): Show |
CSF3 | ENSG00000108342.13 | transcript | ENST00000394149.8 | protein_coding | 1656 | chr17 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19485759 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02293.hp1 NA20129.hp2 |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0009 | a0001c0002t0008g0231 a0001c0002t0009g0056 |
2 | 43 | 0.0465 | 17 | c.634 others(36): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19541553 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02559.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0023a0002c0003t0005 | a0001c0002t0023g0096 a0002c0003t0005g0100 a0002c0003t0005g0113 others(1): Show |
4 | 77 | 0.0519 | 17 | c.-29 others(38): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19599472 | A | AGAAAGAA others(10): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0007 | a0001c0007t0031 | a0001c0007t0031g0029 | 1 | 44 | 0.0227 | 17 | c.-29 others(36): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19667031 | G | GAAAGAAA others(10): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0052 | 1 | 224 | 0.0045 | 17 | c.-39 others(38): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSK_chr15_74777080_74808197 | 74786013 | T | TTTTTTTG others(10): Show |
intron_variant | MODIFIER | HG02273.hp2 NA18941.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0008 | a0001c0002t0001g0157 a0001c0002t0008g0156 |
2 | 165 | 0.0121 | 17 | c.-66 others(34): Show |
CSK | ENSG00000103653.17 | transcript | ENST00000220003.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CSK_chr15_74777080_74808197 | 74786013 | T | TTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 NA18950.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 |
6 | 169 | 0.0355 | 17 | c.-66 others(34): Show |
CSK | ENSG00000103653.17 | transcript | ENST00000220003.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CSK_chr15_74777080_74808197 | 74786013 | T | TTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01106.hp1 others(21): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0013 | a0001c0002t0001g0005 a0001c0002t0001g0164 a0001c0002t0001g0165 others(8): Show |
24 | 187 | 0.1283 | 17 | c.-66 others(34): Show |
CSK | ENSG00000103653.17 | transcript | ENST00000220003.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CSK_chr15_74777080_74808197 | 74786013 | T | TTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02886.hp2 HG03453.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 |
3 | 166 | 0.0181 | 17 | c.-66 others(34): Show |
CSK | ENSG00000103653.17 | transcript | ENST00000220003.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 2930963 | A | AAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0051 | a0002c0051t0007 | a0002c0051t0007g0081 | 1 | 124 | 0.0081 | 17 | c.*76 others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 4397 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3155359 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02572.hp1 HG03209.hp2 others(3): Show |
a0001a0002a0011others(1): Show | a0001c0006a0002c0060a0002c0076others(3): Show | a0001c0006t0060a0002c0060t0007a0002c0076t0039others(3): Show | a0001c0006t0060g0103 a0002c0060t0007g0094 a0002c0076t0039g0014 others(3): Show |
6 | 11 | 0.5455 | 17 | c.591 others(36): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 39/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3175479 | T | TTCCTTCC others(10): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01934.hp1 |
a0001 | a0001c0003a0001c0108 | a0001c0003t0019a0001c0108t0054 | a0001c0003t0019g0107 a0001c0108t0054g0074 |
2 | 125 | 0.0160 | 17 | c.572 others(36): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 37/69 | chr8 | TogoVar |