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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAB39L_chr13_49303650_49449064 | 49318502 | GGGAAAGG others(51): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0160 a0001c0001t0001g0235 a0001c0001t0003g0006 |
3 | 324 | 0.0093 | -58 | c.835 others(75): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | |||||||
CACHD1_chr1_64465129_64698053 | 64466188 | ATATATAC others(51): Show |
A | upstream_gene_variant | MODIFIER | HG01192.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0013 a0001c0001t0008g0005 |
2 | 166 | 0.0121 | -58 | c.-45 others(69): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 3940 | chr1 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13462241 | CTCTTTGT others(51): Show |
C | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 218 | 0.0046 | -58 | c.294 others(75): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 138053582 | CTCCCCTC others(51): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG01891.hp2 others(8): Show |
a0001a0004a0006others(1): Show | a0001c0051a0004c0023a0004c0042others(4): Show | a0001c0051t0007a0004c0023t0042a0004c0042t0008others(4): Show | a0001c0051t0007g0108 a0004c0023t0042g0076 a0004c0042t0008g0121 others(8): Show |
11 | 248 | 0.0444 | -58 | c.380 others(75): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 25/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CADPS2_chr7_122313411_122891460 | 122706286 | AATATATA others(51): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG01069.hp1 HG01243.hp2 others(2): Show |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0001a0001c0002t0004a0002c0006t0002 | a0001c0002t0001g0019 a0001c0002t0001g0026 a0001c0002t0001g0038 others(2): Show |
5 | 126 | 0.0397 | -58 | c.453 others(77): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 2/29 | chr7 | TogoVar | |||||||
CALHM1_chr10_103448240_103463900 | 103449159 | AACTGAGA others(51): Show |
A | downstream_gene_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 462 | 0.0022 | -58 | c.*60 others(69): Show |
CALHM1 | ENSG00000185933.7 | transcript | ENST00000329905.6 | protein_coding | 4080 | chr10 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12691349 | CTATATAT others(51): Show |
C | intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0136 | 1 | 214 | 0.0047 | -58 | c.299 others(77): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12691365 | ATATATAT others(51): Show |
A | intron_variant | MODIFIER | HG01928.hp1 HG02040.hp2 HG02165.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0016 a0001c0001t0001g0076 a0001c0001t0001g0176 others(10): Show |
13 | 214 | 0.0608 | -58 | c.299 others(77): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12691367 | ATATATAT others(51): Show |
A | intron_variant | MODIFIER | HG03491.hp2 NA18906.hp1 NA18951.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0001t0018others(2): Show | a0001c0001t0001g0173 a0001c0001t0011g0009 a0001c0001t0018g0013 others(2): Show |
5 | 214 | 0.0234 | -58 | c.299 others(77): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12694519 | TATATGAT others(51): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG02040.hp2 HG03491.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0001t0033a0001c0001t0036others(3): Show | a0001c0001t0018g0013 a0001c0001t0033g0185 a0001c0001t0036g0022 others(3): Show |
6 | 214 | 0.0280 | -58 | c.299 others(77): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK2B_chr7_44212154_44330594 | 44227650 | GAGGGAGA others(51): Show |
G | intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0012 | a0002c0012t0013 | a0002c0012t0013g0023 | 1 | 242 | 0.0041 | -58 | c.146 others(77): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 19/23 | chr7 | TogoVar | |||||||
CAMK2B_chr7_44212154_44330594 | 44227678 | GTGGGGGA others(51): Show |
G | intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0050 | 1 | 242 | 0.0041 | -58 | c.146 others(77): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 19/23 | chr7 | TogoVar | |||||||
CAMK2B_chr7_44212154_44330594 | 44277739 | CCCATCCC others(51): Show |
C | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0217 | 1 | 242 | 0.0041 | -58 | c.160 others(75): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 2/23 | chr7 | TogoVar | |||||||
CAMKMT_chr2_44356947_44777592 | 44409080 | GATATATA others(51): Show |
G | intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 198 | 0.0051 | -58 | c.376 others(77): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CANT1_chr17_78986716_79014764 | 79004470 | GGAGTTAG others(51): Show |
G | intron_variant | MODIFIER | HG02083.hp2 NA19054.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 a0001c0001t0001g0177 |
2 | 394 | 0.0051 | -58 | c.-14 others(77): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CANT1_chr17_78986716_79014764 | 79004698 | TGGGAGTT others(51): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG02074.hp2 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0007 a0001c0003t0002g0077 a0001c0003t0002g0186 |
8 | 394 | 0.0203 | -58 | c.-14 others(77): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CANT1_chr17_78986716_79014764 | 79005003 | AGTTAGGG others(51): Show |
A | intron_variant | MODIFIER | HG02132.hp1 HG02559.hp1 NA18906.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0006a0001c0003t0010 | a0001c0003t0002g0095 a0001c0003t0006g0258 a0001c0003t0006g0259 others(1): Show |
4 | 394 | 0.0102 | -58 | c.-14 others(77): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38736154 | AGCCTCGT others(51): Show |
A | frameshift_variant | HIGH | HG01346.hp1 | a0022 | a0022c0035 | a0022c0035t0002 | a0022c0035t0002g0206 | 1 | 342 | 0.0029 | -58 | c.148 others(67): Show |
p.Cys others(5): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/21 | 1847/3129 | 1481/2160 | 494/719 | chr19 | TogoVar | |||
CARD14_chr17_80165030_80214331 | 80184619 | ATCCTCCT others(51): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(269): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0007a0001c0012others(54): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(79): Show | a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0001t0002g0096 others(264): Show |
272 | 376 | 0.7234 | -58 | c.675 others(73): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116555508 | GAAAGAAA others(51): Show |
G | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0075 | 1 | 342 | 0.0029 | -58 | c.196 others(75): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 95993920 | GTGTGTGT others(51): Show |
G | intron_variant | MODIFIER | HG00558.hp1 NA18942.hp1 NA18995.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002 | a0001c0001t0002g0239 a0001c0001t0002g0247 a0001c0001t0002g0250 others(4): Show |
7 | 312 | 0.0224 | -58 | c.264 others(77): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 22/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CCDC57_chr17_82096470_82217842 | 82158377 | GGCTGAGG others(51): Show |
G | intron_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0050 | 1 | 252 | 0.0040 | -58 | c.204 others(75): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 13/18 | chr17 | TogoVar | |||||||
CCDC60_chr12_119329729_119546040 | 119507527 | CACATATA others(51): Show |
C | intron_variant | MODIFIER | HG02818.hp2 | a0012 | a0012c0014 | a0012c0014t0003 | a0012c0014t0003g0066 | 1 | 256 | 0.0039 | -58 | c.883 others(75): Show |
CCDC60 | ENSG00000183273.7 | transcript | ENST00000327554.3 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCDC88A_chr2_55282842_55424856 | 55384534 | TATATACG others(51): Show |
T | intron_variant | MODIFIER | HG03540.hp2 NA20300.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0002t0010 | a0001c0001t0016g0021 a0001c0001t0016g0028 a0001c0002t0010g0083 |
3 | 316 | 0.0095 | -58 | c.273 others(75): Show |
CCDC88A | ENSG00000115355.18 | transcript | ENST00000436346.7 | protein_coding | 3/32 | chr2 | TogoVar | |||||||
CCL17_chr16_57399767_57421063 | 57403148 | AATATATA others(51): Show |
A | upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 388 | 0.0026 | -58 | c.-17 others(69): Show |
CCL17 | ENSG00000102970.11 | transcript | ENST00000219244.9 | protein_coding | 1618 | chr16 | TogoVar | |||||||
CCND3_chr6_41929952_41946808 | 41931601 | TATGGGGA others(51): Show |
T | downstream_gene_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 456 | 0.0022 | -58 | c.*42 others(69): Show |
CCND3 | ENSG00000112576.13 | transcript | ENST00000372991.9 | protein_coding | 3350 | chr6 | TogoVar | |||||||
CCSER1_chr4_90122394_91610295 | 90822948 | ACTATACT others(51): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02897.hp1 |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0020a0006c0006t0016 | a0001c0001t0020g0033 a0006c0006t0016g0020 |
2 | 38 | 0.0526 | -58 | c.209 others(77): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CD36_chr7_80633642_80684274 | 80683602 | TATATATG others(51): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00673.hp2 others(59): Show |
a0001a0004a0005 | a0001c0001a0004c0007a0005c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0001g0004 a0001c0001t0001g0171 a0001c0001t0004g0007 others(44): Show |
62 | 392 | 0.1582 | -58 | c.*72 others(69): Show |
CD36 | ENSG00000135218.19 | transcript | ENST00000447544.7 | protein_coding | 4329 | chr7 | TogoVar | |||||||
CD36_chr7_80633642_80684274 | 80683622 | CATATATA others(51): Show |
C | downstream_gene_variant | MODIFIER | HG03195.hp1 | a0009 | a0009c0013 | a0009c0013t0051 | a0009c0013t0051g0284 | 1 | 392 | 0.0026 | -58 | c.*72 others(69): Show |
CD36 | ENSG00000135218.19 | transcript | ENST00000447544.7 | protein_coding | 4349 | chr7 | TogoVar | |||||||
CDA_chr1_20584097_20623903 | 20587112 | GGAGTCAA others(51): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(213): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(171): Show |
216 | 418 | 0.5168 | -58 | c.-20 others(69): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 1984 | chr1 | TogoVar | |||||||
CDC14A_chr1_100347506_100525277 | 100377980 | ATGAACAG others(51): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG03225.hp2 HG03540.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0005a0001c0004t0003 | a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 others(2): Show |
5 | 306 | 0.0163 | -58 | c.216 others(73): Show |
CDC14A | ENSG00000079335.20 | transcript | ENST00000336454.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CDH18_chr5_19466296_19993200 | 19849599 | CATATATA others(51): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG03098.hp1 |
a0001 | a0001c0004 | a0001c0004t0003a0001c0004t0017 | a0001c0004t0003g0024 a0001c0004t0017g0095 |
2 | 138 | 0.0145 | -58 | c.-25 others(79): Show |
CDH18 | ENSG00000145526.12 | transcript | ENST00000382275.6 | protein_coding | 2/12 | chr5 | TogoVar | |||||||
CDHR5_chr11_611583_629955 | 613673 | TGTGAGTG others(51): Show |
T | downstream_gene_variant | MODIFIER | HG00423.hp2 HG02015.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0008 | a0002c0002t0001g0117 a0002c0002t0008g0107 |
2 | 409 | 0.0049 | -58 | c.*36 others(69): Show |
CDHR5 | ENSG00000099834.19 | transcript | ENST00000397542.7 | protein_coding | 2909 | chr11 | TogoVar | |||||||
CDK12_chr17_39456486_39539544 | 39481631 | GCGCTCTC others(51): Show |
G | intron_variant | MODIFIER | HG01255.hp1 HG02809.hp1 NA18522.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0142 a0001c0001t0001g0170 a0001c0001t0001g0171 others(1): Show |
4 | 260 | 0.0154 | -58 | c.193 others(77): Show |
CDK12 | ENSG00000167258.16 | transcript | ENST00000447079.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CDK12_chr17_39456486_39539544 | 39537628 | TCTCGGCT others(51): Show |
T | downstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0094 | 1 | 260 | 0.0039 | -58 | c.*63 others(69): Show |
CDK12 | ENSG00000167258.16 | transcript | ENST00000447079.6 | protein_coding | 3085 | chr17 | TogoVar | |||||||
CDKN2A_chr9_21962752_21999392 | 21981106 | GTATATAT others(51): Show |
G | intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 404 | 0.0025 | -58 | c.194 others(75): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CELA3B_chr1_21972022_21994354 | 21974202 | GACCCAGC others(51): Show |
G | upstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 444 | 0.0023 | -58 | c.-28 others(69): Show |
CELA3B | ENSG00000219073.8 | transcript | ENST00000337107.11 | protein_coding | 2819 | chr1 | TogoVar | |||||||
CELF1_chr11_47460937_47558132 | 47541752 | AAGAACGA others(51): Show |
A | intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 340 | 0.0029 | -58 | c.-15 others(79): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 1/14 | chr11 | TogoVar | |||||||
CENPE_chr4_103100811_103203343 | 103112587 | CATACTTA others(51): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG02976.hp1 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0073 a0004c0005t0001g0076 |
2 | 320 | 0.0063 | -58 | c.754 others(77): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 46/48 | chr4 | TogoVar | |||||||
CEP350_chr1_179949810_180119875 | 180119149 | CGGGAAAA others(51): Show |
C | downstream_gene_variant | MODIFIER | HG02056.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0094 | 1 | 248 | 0.0040 | -58 | c.*79 others(69): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4275 | chr1 | TogoVar | |||||||
CERCAM_chr9_128415857_128442347 | 128437832 | TATACACA others(51): Show |
T | downstream_gene_variant | MODIFIER | HG02080.hp1 NA19010.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0054 a0001c0002t0001g0168 |
2 | 400 | 0.0050 | -58 | c.*98 others(68): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 486 | chr9 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132888684 | ACCTGCCA others(51): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00642.hp2 others(7): Show |
a0004a0033a0061 | a0004c0005a0033c0048a0061c0092 | a0004c0005t0001a0004c0005t0002a0033c0048t0001others(1): Show | a0004c0005t0001g0220 a0004c0005t0001g0221 a0004c0005t0001g0222 others(7): Show |
10 | 246 | 0.0407 | -58 | c.330 others(77): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132930224 | TCACACAG others(51): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01169.hp1 HG01257.hp2 others(12): Show |
a0010a0012a0025others(9): Show | a0010c0072a0012c0025a0012c0073others(10): Show | a0010c0072t0002a0012c0025t0002a0012c0073t0002others(11): Show | a0010c0072t0002g0004 a0012c0025t0002g0007 a0012c0025t0002g0014 others(12): Show |
15 | 246 | 0.0610 | -58 | c.867 others(73): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 8/57 | chr10 | TogoVar | |||||||
CHKB_chr22_50573963_50587849 | 50586711 | TGCTGAGC others(51): Show |
T | upstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 416 | 0.0024 | -58 | c.-39 others(69): Show |
CHKB | ENSG00000100288.20 | transcript | ENST00000406938.3 | protein_coding | 3863 | chr22 | TogoVar | |||||||
CHRNB4_chr15_78619111_78646210 | 78632195 | TTCTTTCT others(51): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp1 others(163): Show |
a0001 | a0001c0001a0001c0010a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(81): Show |
166 | 416 | 0.3990 | -58 | c.205 others(73): Show |
CHRNB4 | ENSG00000117971.12 | transcript | ENST00000261751.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
CHST8_chr19_33616953_33778506 | 33757384 | AAAGAAGA others(51): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0039 a0001c0002t0001g0159 |
2 | 254 | 0.0079 | -58 | c.131 others(77): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CLASP2_chr3_33491245_33723254 | 33708490 | GTATATAT others(51): Show |
G | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0004 | 1 | 278 | 0.0036 | -58 | c.195 others(75): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 1/38 | chr3 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123118988 | TCTTTCTT others(51): Show |
T | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0165 | 1 | 254 | 0.0039 | -58 | c.29- others(75): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLN8_chr8_1758789_1791570 | 1763559 | CCCCCGCC others(51): Show |
C | upstream_gene_variant | MODIFIER | NA18939.hp1 NA18993.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 2 | 413 | 0.0048 | -58 | c.-44 others(67): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 229 | chr8 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1328410 | ACAGACAC others(51): Show |
A | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0346 | 1 | 370 | 0.0027 | -58 | c.108 others(77): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 9/16 | chr5 | TogoVar |