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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLTA_chr9_36185921_36217059 | 36210099 | TTTTTTTC | T | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00642.hp1 others(58): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0003 | a0001c0002t0003g0003 a0001c0002t0003g0013 a0001c0002t0003g0014 others(29): Show |
61 | 398 | 0.1533 | -7 | c.486 others(24): Show |
CLTA | ENSG00000122705.18 | transcript | ENST00000345519.10 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CLTB_chr5_176387501_176421539 | 176405489 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG01256.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0067 others(1): Show |
12 | 372 | 0.0323 | -7 | c.234 others(24): Show |
CLTB | ENSG00000175416.16 | transcript | ENST00000310418.9 | protein_coding | 2/5 | chr5 | TogoVar | |||||||
CLTCL1_chr22_19174473_19296719 | 19217615 | CAAAAAAA | C | intron_variant | MODIFIER | HG01346.hp1 HG01891.hp1 HG02109.hp1 others(11): Show |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0095 a0003c0005t0001g0274 a0003c0005t0001g0275 others(11): Show |
14 | 125 | 0.1120 | -7 | c.292 others(26): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 18/32 | chr22 | TogoVar | |||||||
CLTC_chr17_59614895_59701956 | 59659429 | ATTTTTAT | A | intron_variant | MODIFIER | HG01099.hp2 HG01884.hp1 HG01952.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0114 a0001c0001t0001g0115 others(4): Show |
8 | 258 | 0.0310 | -7 | c.970 others(22): Show |
CLTC | ENSG00000141367.13 | transcript | ENST00000269122.8 | protein_coding | 6/31 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CLTC_chr17_59614895_59701956 | 59670282 | TTTTTTTG | T | intron_variant | MODIFIER | HG00738.hp1 HG01261.hp1 HG01934.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0006 a0001c0001t0001g0087 a0001c0001t0001g0088 others(18): Show |
22 | 258 | 0.0853 | -7 | c.229 others(26): Show |
CLTC | ENSG00000141367.13 | transcript | ENST00000269122.8 | protein_coding | 14/31 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CLTC_chr17_59614895_59701956 | 59685288 | TTATAATC | T | intron_variant | MODIFIER | HG03041.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 a0001c0001t0003g0028 |
2 | 258 | 0.0078 | -7 | c.460 others(22): Show |
CLTC | ENSG00000141367.13 | transcript | ENST00000269122.8 | protein_coding | 29/31 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CLUH_chr17_2684387_2716764 | 2685622 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG00558.hp2 HG01346.hp2 HG01496.hp1 others(35): Show |
a0001a0009 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0002others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0023 others(22): Show |
38 | 252 | 0.1508 | -7 | c.*49 others(18): Show |
CLUH | ENSG00000132361.18 | transcript | ENST00000651024.2 | protein_coding | 3764 | chr17 | TogoVar | |||||||
CLUH_chr17_2684387_2716764 | 2691972 | GCCCCCGC | G | intron_variant | MODIFIER | HG01070.hp1 HG02055.hp1 HG02723.hp2 others(5): Show |
a0001 | a0001c0004a0001c0005a0001c0010 | a0001c0004t0002a0001c0005t0002a0001c0005t0009others(1): Show | a0001c0004t0002g0045 a0001c0005t0002g0250 a0001c0005t0002g0251 others(3): Show |
8 | 352 | 0.0227 | -7 | c.365 others(22): Show |
CLUH | ENSG00000132361.18 | transcript | ENST00000651024.2 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 626944 | AAGGAAGG | A | intron_variant | MODIFIER | HG00423.hp1 HG03098.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0164 a0001c0001t0001g0331 a0001c0001t0002g0315 |
3 | 410 | 0.0073 | -7 | c.424 others(22): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 630672 | CTTTTTTT | C | intron_variant | MODIFIER | HG00438.hp1 HG01433.hp2 HG03927.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0169 a0001c0001t0001g0206 others(4): Show |
7 | 52 | 0.1346 | -7 | c.857 others(24): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99633210 | CAAAAAAA | C | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG00741.hp2 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0002g0026 others(6): Show |
9 | 59 | 0.1525 | -7 | c.62+ others(24): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99666700 | ATGGTATT | A | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp1 HG02809.hp1 others(6): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0011 | a0001c0001t0001a0002c0002t0001a0010c0011t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(6): Show |
9 | 216 | 0.0417 | -7 | c.62+ others(24): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99691597 | CCAAAAAA | C | intron_variant | MODIFIER | HG01106.hp1 HG01361.hp2 HG01433.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0053 a0001c0001t0001g0116 a0001c0001t0001g0117 others(3): Show |
6 | 216 | 0.0278 | -7 | c.63- others(24): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99716169 | ATTTTTTT | A | intron_variant | MODIFIER | HG01106.hp1 HG02886.hp2 HG02965.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 others(2): Show |
5 | 55 | 0.0909 | -7 | c.63- others(24): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CMA1_chr14_24500353_24513265 | 24500529 | GGTGATCA | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00738.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0013 others(3): Show |
38 | 430 | 0.0884 | -7 | c.*49 others(18): Show |
CMA1 | ENSG00000092009.10 | transcript | ENST00000250378.7 | protein_coding | 4823 | chr14 | TogoVar | |||||||
CMBL_chr5_10272595_10312902 | 10308390 | ATTTTTTT | A | upstream_gene_variant | MODIFIER | HG01358.hp1 HG01361.hp1 HG02055.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(4): Show | a0001c0001t0001g0221 a0001c0001t0004g0034 a0001c0001t0004g0208 others(11): Show |
15 | 146 | 0.1027 | -7 | c.-79 others(16): Show |
CMBL | ENSG00000164237.9 | transcript | ENST00000296658.4 | protein_coding | 489 | chr5 | TogoVar | |||||||
CMBL_chr5_10272595_10312902 | 10309787 | TACCCAGA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00558.hp1 others(173): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0023 others(130): Show |
176 | 348 | 0.5057 | -7 | c.-21 others(18): Show |
CMBL | ENSG00000164237.9 | transcript | ENST00000296658.4 | protein_coding | 1886 | chr5 | TogoVar | |||||||
CMC2_chr16_80961448_81011885 | 80965195 | AAAAAAAC | A | downstream_gene_variant | MODIFIER | NA18946.hp1 NA18953.hp2 NA18963.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0030a0002c0002t0008a0002c0002t0035others(4): Show | a0001c0001t0030g0174 a0002c0002t0008g0027 a0002c0002t0008g0103 others(6): Show |
9 | 348 | 0.0259 | -7 | c.*10 others(20): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1252 | chr16 | TogoVar | |||||||
CMC2_chr16_80961448_81011885 | 80965199 | AAACATAT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00544.hp2 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0013a0001c0001t0044others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0020 others(17): Show |
24 | 319 | 0.0752 | -7 | c.*10 others(20): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1248 | chr16 | TogoVar | |||||||
CMC2_chr16_80961448_81011885 | 80971557 | ATACATTT | A | 3_prime_UTR_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0038a0001c0001t0101 | a0001c0001t0038g0036 a0001c0001t0101g0171 |
3 | 406 | 0.0074 | -7 | c.*45 others(18): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 4/4 | 4529 | chr16 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80994057 | ATTGATTT | A | intron_variant | MODIFIER | NA18946.hp1 NA18974.hp1 NA18983.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0008a0002c0002t0080a0002c0002t0099 | a0002c0002t0008g0027 a0002c0002t0008g0083 a0002c0002t0008g0101 others(4): Show |
8 | 406 | 0.0197 | -7 | c.81+ others(22): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 2/3 | chr16 | TogoVar | |||||||
CMIP_chr16_81439808_81716762 | 81683756 | CTTTTTTT | C | intron_variant | MODIFIER | HG02145.hp1 HG02630.hp2 HG03041.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0003g0201 others(3): Show |
6 | 189 | 0.0317 | -7 | c.138 others(26): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CMKLR2_chr2_206170316_206218371 | 206172791 | AGGGAGAC | A | downstream_gene_variant | MODIFIER | HG02132.hp1 HG02523.hp2 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0288 a0001c0001t0002g0300 a0001c0001t0002g0309 |
3 | 319 | 0.0094 | -7 | c.*33 others(18): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2524 | chr2 | TogoVar | |||||||
CMKLR2_chr2_206170316_206218371 | 206172816 | AGGGAGAC | A | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG01516.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(2): Show | a0001c0001t0002g0053 a0001c0001t0002g0103 a0001c0001t0002g0108 others(13): Show |
16 | 318 | 0.0503 | -7 | c.*33 others(18): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2499 | chr2 | TogoVar | |||||||
CMKLR2_chr2_206170316_206218371 | 206173043 | AGGGAGAC | A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG03540.hp1 HG03579.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0019 a0002c0003t0001g0252 a0002c0003t0001g0253 |
3 | 319 | 0.0094 | -7 | c.*31 others(18): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2272 | chr2 | TogoVar | |||||||
CMKLR2_chr2_206170316_206218371 | 206179055 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00639.hp2 others(67): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0003 | a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0021 others(67): Show |
70 | 139 | 0.5036 | -7 | c.-28 others(24): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
CMKLR2_chr2_206170316_206218371 | 206207728 | CTTTTTTT | C | intron_variant | MODIFIER | HG00673.hp1 HG01192.hp2 HG01255.hp2 others(12): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0003 | a0002c0002t0001g0005 a0002c0002t0001g0030 a0002c0002t0001g0032 others(11): Show |
15 | 21 | 0.7143 | -7 | c.-29 others(24): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
CMPK1_chr1_47328790_47383839 | 47377021 | AGTTTGTG | A | 3_prime_UTR_variant | MODIFIER | HG02055.hp1 HG03540.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0088 a0001c0001t0008g0089 a0001c0001t0008g0090 |
3 | 362 | 0.0083 | -7 | c.*27 others(16): Show |
CMPK1 | ENSG00000162368.15 | transcript | ENST00000371873.10 | protein_coding | 6/6 | 277 | chr1 | TogoVar | ||||||
CMSS1_chr3_99812862_100186732 | 100001134 | GATTTAAA | G | intron_variant | MODIFIER | HG02809.hp2 HG03041.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0009 a0001c0001t0009g0010 a0001c0001t0009g0040 |
3 | 232 | 0.0129 | -7 | c.65- others(26): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
CMSS1_chr3_99812862_100186732 | 100132818 | CAAAAAAA | C | intron_variant | MODIFIER | HG01891.hp2 HG02080.hp1 HG02280.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0018 | a0001c0001t0002g0152 a0001c0001t0005g0082 a0001c0001t0005g0083 others(4): Show |
7 | 205 | 0.0341 | -7 | c.65- others(24): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM7_chr3_32386853_32460528 | 32416361 | ATTTTTTT | A | intron_variant | MODIFIER | HG02257.hp2 HG03831.hp2 NA18966.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0049 a0001c0001t0001g0254 a0001c0001t0001g0281 others(3): Show |
6 | 40 | 0.1500 | -7 | c.159 others(26): Show |
CMTM7 | ENSG00000153551.14 | transcript | ENST00000334983.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM7_chr3_32386853_32460528 | 32442498 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(125): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0015others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(118): Show |
128 | 221 | 0.5792 | -7 | c.333 others(22): Show |
CMTM7 | ENSG00000153551.14 | transcript | ENST00000334983.10 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM7_chr3_32386853_32460528 | 32459305 | AAAAAAAG | A | downstream_gene_variant | MODIFIER | HG01975.hp1 NA18522.hp2 NA18960.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0004 | a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0238 others(3): Show |
6 | 366 | 0.0164 | -7 | c.*50 others(18): Show |
CMTM7 | ENSG00000153551.14 | transcript | ENST00000334983.10 | protein_coding | 3778 | chr3 | TogoVar | |||||||
CMTM8_chr3_32233680_32375321 | 32280846 | CAAAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00558.hp2 others(21): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0004c0005t0001 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 others(21): Show |
24 | 159 | 0.1509 | -7 | c.147 others(26): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32295477 | AACAAAAC | A | intron_variant | MODIFIER | NA18947.hp2 NA18973.hp1 NA18974.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0082 others(3): Show |
6 | 342 | 0.0175 | -7 | c.147 others(26): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32328449 | GTCAAGGC | G | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00423.hp2 others(209): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(208): Show |
212 | 342 | 0.6199 | -7 | c.148 others(26): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMYA5_chr5_79684836_79805222 | 79713297 | GCCCCCAC | G | intron_variant | MODIFIER | HG01255.hp1 HG02109.hp2 HG02258.hp2 others(3): Show |
a0001a0002a0008others(3): Show | a0001c0001a0002c0002a0008c0008others(3): Show | a0001c0001t0002a0002c0002t0002a0008c0008t0001others(3): Show | a0001c0001t0002g0337 a0002c0002t0002g0148 a0008c0008t0001g0138 others(3): Show |
6 | 348 | 0.0172 | -7 | c.150 others(26): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CMYA5_chr5_79684836_79805222 | 79720427 | AATTTTTT | A | intron_variant | MODIFIER | HG02280.hp2 HG02523.hp2 NA18942.hp1 others(4): Show |
a0001a0002a0003others(3): Show | a0001c0058a0002c0002a0002c0020others(4): Show | a0001c0058t0002a0002c0002t0001a0002c0020t0001others(4): Show | a0001c0058t0002g0339 a0002c0002t0001g0044 a0002c0020t0001g0117 others(4): Show |
7 | 167 | 0.0419 | -7 | c.150 others(24): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 1/12 | chr5 | TogoVar | |||||||
CNBD1_chr8_86861415_87387859 | 86894035 | ATTTTTTT | A | intron_variant | MODIFIER | HG01243.hp1 HG02015.hp1 HG02055.hp1 others(10): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0008t0001 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 others(10): Show |
13 | 24 | 0.5417 | -7 | c.158 others(24): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87030929 | CCCCCCTT | C | intron_variant | MODIFIER | HG01167.hp2 HG01261.hp2 HG02723.hp1 others(7): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0039 a0001c0001t0001g0088 others(7): Show |
10 | 152 | 0.0658 | -7 | c.431 others(26): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87118314 | CAAAAAAA | C | intron_variant | MODIFIER | HG02055.hp1 HG02622.hp1 HG02717.hp2 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0006t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0021 others(6): Show |
9 | 13 | 0.6923 | -7 | c.432 others(26): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87191172 | AGCAGAAG | A | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02809.hp2 others(1): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0019 a0001c0001t0001g0021 a0002c0002t0001g0090 others(1): Show |
4 | 152 | 0.0263 | -7 | c.432 others(26): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87256004 | TATATATA | T | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0073 |
2 | 151 | 0.0132 | -7 | c.771 others(26): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | chr8 | TogoVar | |||||||
CNBD1_chr8_86861415_87387859 | 87297163 | CAAAAAAA | C | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00639.hp2 others(27): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0021 others(27): Show |
30 | 120 | 0.2500 | -7 | c.104 others(28): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD2_chr20_35963590_36035700 | 36008934 | CCTCTCTA | C | intron_variant | MODIFIER | HG01243.hp1 HG02486.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0232 others(3): Show |
6 | 266 | 0.0226 | -7 | c.114 others(24): Show |
CNBD2 | ENSG00000149646.12 | transcript | ENST00000373973.7 | protein_coding | 9/11 | chr20 | TogoVar | |||||||
CNBP_chr3_129162827_129188896 | 129164210 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00597.hp1 others(94): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0013 others(71): Show |
97 | 100 | 0.9700 | -7 | c.*62 others(18): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 3616 | chr3 | TogoVar | |||||||
CNDP1_chr18_74529500_74592212 | 74570211 | ATAATAAT | A | intron_variant | MODIFIER | HG01928.hp1 HG01952.hp1 HG02004.hp1 others(3): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(3): Show | a0001c0001t0001g0377 a0001c0001t0002g0180 a0001c0002t0002g0164 others(3): Show |
6 | 388 | 0.0155 | -7 | c.757 others(22): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CNGA1_chr4_47930977_48021681 | 47955173 | CTTTTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00642.hp2 others(104): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 others(99): Show |
107 | 130 | 0.8231 | -7 | c.-14 others(24): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 3/10 | chr4 | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57944951 | TAAAAAAA | T | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00741.hp1 others(33): Show |
a0001a0002a0007others(7): Show | a0001c0004a0002c0005a0002c0006others(12): Show | a0001c0004t0001a0002c0005t0001a0002c0005t0002others(24): Show | a0001c0004t0001g0153 a0002c0005t0001g0015 a0002c0005t0001g0016 others(33): Show |
36 | 247 | 0.1457 | -7 | c.112 others(26): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 14/32 | chr16 | TogoVar | |||||||
CNGB3_chr8_86569179_86748634 | 86600776 | ATTTTTTT | A | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp1 HG02155.hp1 others(13): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0007 | a0001c0001t0001a0001c0001t0008a0002c0002t0001others(2): Show | a0001c0001t0001g0020 a0001c0001t0001g0055 a0001c0001t0001g0060 others(13): Show |
16 | 44 | 0.3636 | -7 | c.178 others(26): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 15/17 | chr8 | TogoVar |