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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCDC66_chr3_56552175_56626837 | 56556842 | G | GGGGGGGG others(44): Show |
upstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 372 | 0.0027 | 51 | c.-40 others(60): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 332 | chr3 | TogoVar | ||||||
CCDC66_chr3_56552175_56626837 | 56556842 | G | GGGGGGGG others(44): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0204 | 1 | 372 | 0.0027 | 51 | c.-40 others(60): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 332 | chr3 | TogoVar | ||||||
CCDC66_chr3_56552175_56626837 | 56556842 | G | GGGGGTGT others(44): Show |
upstream_gene_variant | MODIFIER | NA18945.hp1 NA18960.hp1 NA18968.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0140a0001c0001t0001g0145a0001c0001t0003g0130 | 3 | 372 | 0.0081 | 51 | c.-40 others(60): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 332 | chr3 | TogoVar | ||||||
CCDC88A_chr2_55282842_55424856 | 55297340 | T | TTATATAT others(44): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 316 | 0.0032 | 51 | c.482 others(68): Show |
CCDC88A | ENSG00000115355.18 | transcript | ENST00000436346.7 | protein_coding | 29/32 | chr2 | TogoVar | ||||||
CCDC88A_chr2_55282842_55424856 | 55297340 | T | TTATATAT others(44): Show |
intron_variant | MODIFIER | HG03669.hp1 NA18612.hp2 NA18969.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0110a0001c0001t0002g0145a0001c0001t0005g0247 | 3 | 316 | 0.0095 | 51 | c.482 others(68): Show |
CCDC88A | ENSG00000115355.18 | transcript | ENST00000436346.7 | protein_coding | 29/32 | chr2 | TogoVar | ||||||
CCNB1IP1_chr14_20306370_20338279 | 20332005 | C | CATATATA others(44): Show |
intron_variant | MODIFIER | HG02055.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0164a0001c0001t0008g0165 | 2 | 418 | 0.0048 | 51 | c.-43 others(70): Show |
CCNB1IP1 | ENSG00000100814.19 | transcript | ENST00000358932.9 | protein_coding | 1/6 | chr14 | TogoVar | ||||||
CCND2_chr12_4268762_4310353 | 4309200 | C | CTTTTTTT others(44): Show |
downstream_gene_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0011 | 1 | 460 | 0.0022 | 51 | c.*91 others(62): Show |
CCND2 | ENSG00000118971.9 | transcript | ENST00000261254.8 | protein_coding | 3848 | chr12 | TogoVar | ||||||
CD101_chr1_116996760_117041552 | 117029240 | A | AGAAAGAA others(44): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0266 | 1 | 426 | 0.0024 | 51 | c.282 others(70): Show |
CD101 | ENSG00000134256.13 | transcript | ENST00000682167.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CD247_chr1_167425640_167523529 | 167483013 | T | TTTCTTTC others(44): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00735.hp1 HG01361.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0016a0001c0001t0001g0034a0001c0001t0001g0045others(5): Show | 8 | 374 | 0.0214 | 51 | c.58+ others(68): Show |
CD247 | ENSG00000198821.12 | transcript | ENST00000362089.10 | protein_coding | 1/7 | chr1 | TogoVar | ||||||
CD6_chr11_60966680_61025377 | 60982123 | C | CGGTCTGT others(44): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0054 | 1 | 302 | 0.0033 | 51 | c.49+ others(68): Show |
CD6 | ENSG00000013725.14 | transcript | ENST00000313421.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CD6_chr11_60966680_61025377 | 60982123 | C | CGGTCTGT others(44): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 302 | 0.0033 | 51 | c.49+ others(68): Show |
CD6 | ENSG00000013725.14 | transcript | ENST00000313421.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CD6_chr11_60966680_61025377 | 60982123 | C | CGGTCTGT others(44): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(132): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0007a0001c0010others(15): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(18): Show | a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0048others(121): Show | 135 | 302 | 0.4470 | 51 | c.49+ others(68): Show |
CD6 | ENSG00000013725.14 | transcript | ENST00000313421.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CDC42BPA_chr1_226984865_227323492 | 227179635 | C | CAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0253 | 1 | 352 | 0.0028 | 51 | c.599 others(70): Show |
CDC42BPA | ENSG00000143776.20 | transcript | ENST00000366766.8 | protein_coding | 5/36 | chr1 | TogoVar | ||||||
CDC42BPB_chr14_102927380_103062549 | 102985024 | A | AACCATGA others(44): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0282 | 1 | 320 | 0.0031 | 51 | c.691 others(68): Show |
CDC42BPB | ENSG00000198752.11 | transcript | ENST00000361246.7 | protein_coding | 6/36 | chr14 | TogoVar | ||||||
CDC42BPB_chr14_102927380_103062549 | 102985129 | C | CGTGACAG others(44): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 320 | 0.0031 | 51 | c.690 others(68): Show |
CDC42BPB | ENSG00000198752.11 | transcript | ENST00000361246.7 | protein_coding | 6/36 | chr14 | TogoVar | ||||||
CDC42BPB_chr14_102927380_103062549 | 102985245 | G | GTGGAGGT others(44): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0004 | a0004c0017 | a0004c0017t0014 | a0004c0017t0014g0248 | 1 | 320 | 0.0031 | 51 | c.690 others(68): Show |
CDC42BPB | ENSG00000198752.11 | transcript | ENST00000361246.7 | protein_coding | 6/36 | chr14 | TogoVar | ||||||
CDC42BPB_chr14_102927380_103062549 | 102985245 | G | GTGGAGGT others(44): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02109.hp1 HG02258.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0021 | a0001c0001t0001a0001c0002t0001a0001c0021t0001 | a0001c0001t0001g0149a0001c0002t0001g0062a0001c0002t0001g0063others(11): Show | 14 | 320 | 0.0438 | 51 | c.690 others(68): Show |
CDC42BPB | ENSG00000198752.11 | transcript | ENST00000361246.7 | protein_coding | 6/36 | chr14 | TogoVar | ||||||
CDC42BPB_chr14_102927380_103062549 | 102985321 | T | TTCTGGTT others(44): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0002 | a0001c0002t0033 | a0001c0002t0033g0183 | 1 | 320 | 0.0031 | 51 | c.690 others(68): Show |
CDC42BPB | ENSG00000198752.11 | transcript | ENST00000361246.7 | protein_coding | 6/36 | chr14 | TogoVar | ||||||
CDCA7L_chr7_21895899_21950899 | 21900387 | G | GACTGAAT others(44): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(48): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0003g0228a0001c0001t0004g0167a0001c0001t0004g0172others(42): Show | 51 | 432 | 0.1181 | 51 | c.*18 others(62): Show |
CDCA7L | ENSG00000164649.20 | transcript | ENST00000406877.8 | protein_coding | 511 | chr7 | TogoVar | ||||||
CDCA7L_chr7_21895899_21950899 | 21900421 | A | ATCATTTC others(44): Show |
downstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0112 | 1 | 432 | 0.0023 | 51 | c.*19 others(62): Show |
CDCA7L | ENSG00000164649.20 | transcript | ENST00000406877.8 | protein_coding | 477 | chr7 | TogoVar | ||||||
CDCA7_chr2_173349872_173373997 | 173372025 | G | GATTTTTA others(44): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00733.hp1 HG01081.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0003g0003others(10): Show | 39 | 460 | 0.0848 | 51 | c.*43 others(62): Show |
CDCA7 | ENSG00000144354.15 | transcript | ENST00000306721.8 | protein_coding | 3029 | chr2 | TogoVar | ||||||
CDH18_chr5_19466296_19993200 | 19593696 | T | TTCCTCCT others(44): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 138 | 0.0073 | 51 | c.812 others(68): Show |
CDH18 | ENSG00000145526.12 | transcript | ENST00000382275.6 | protein_coding | 6/12 | chr5 | TogoVar | ||||||
CDH18_chr5_19466296_19993200 | 19593707 | C | CCTCCTCC others(44): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0054 | 1 | 138 | 0.0073 | 51 | c.812 others(68): Show |
CDH18 | ENSG00000145526.12 | transcript | ENST00000382275.6 | protein_coding | 6/12 | chr5 | TogoVar | ||||||
CDH18_chr5_19466296_19993200 | 19593707 | C | CCTCCTCC others(44): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0013 | 1 | 138 | 0.0073 | 51 | c.812 others(68): Show |
CDH18 | ENSG00000145526.12 | transcript | ENST00000382275.6 | protein_coding | 6/12 | chr5 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61723863 | C | CGGCTCCA others(44): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02145.hp1 HG02148.hp2 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0018others(17): Show | a0001c0001t0001g0012a0001c0001t0001g0032a0001c0001t0011g0005others(20): Show | 23 | 106 | 0.2170 | 51 | c.170 others(70): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61723863 | C | CGGCTCCA others(44): Show |
intron_variant | MODIFIER | HG02895.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0028 | a0001c0001t0001g0006a0001c0001t0028g0016 | 2 | 106 | 0.0189 | 51 | c.170 others(70): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61723936 | A | AGGTCCCC others(44): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00639.hp2 others(28): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(23): Show | a0001c0001t0001g0030a0001c0001t0001g0049a0001c0001t0002g0059others(28): Show | 31 | 106 | 0.2925 | 51 | c.170 others(70): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61723936 | A | AGGTCCCT others(44): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01884.hp1 HG01884.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0004others(1): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0017others(4): Show | a0001c0001t0002g0007a0001c0001t0009g0019a0001c0001t0017g0065others(5): Show | 8 | 106 | 0.0755 | 51 | c.170 others(70): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61723938 | G | ATCCCCAT others(44): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0003 | a0001c0003t0037 | a0001c0003t0037g0023 | 1 | 106 | 0.0094 | 51 | c.170 others(70): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61724132 | G | GGGGTAGG others(44): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02723.hp1 HG02895.hp1 others(4): Show |
a0001 | a0001c0001a0001c0006a0001c0007 | a0001c0001t0001a0001c0001t0011a0001c0001t0018others(4): Show | a0001c0001t0001g0006a0001c0001t0011g0005a0001c0001t0018g0031others(4): Show | 7 | 106 | 0.0660 | 51 | c.170 others(70): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDIN1_chr15_36574626_36815244 | 36703219 | A | AATATATA others(44): Show |
intron_variant | MODIFIER | HG01109.hp2 HG04115.hp2 NA20752.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0004a0002c0002t0020 | a0001c0001t0004g0139a0002c0002t0004g0176a0002c0002t0020g0178 | 3 | 238 | 0.0126 | 51 | c.544 others(68): Show |
CDIN1 | ENSG00000186073.14 | transcript | ENST00000566621.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CDIN1_chr15_36574626_36815244 | 36703219 | A | AATATATA others(44): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02071.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0127a0002c0002t0002g0049 | 2 | 238 | 0.0084 | 51 | c.544 others(68): Show |
CDIN1 | ENSG00000186073.14 | transcript | ENST00000566621.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CDIN1_chr15_36574626_36815244 | 36703219 | A | AATATATA others(44): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 238 | 0.0042 | 51 | c.544 others(68): Show |
CDIN1 | ENSG00000186073.14 | transcript | ENST00000566621.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CDKN2A_chr9_21962752_21979857 | 21971575 | A | ATTTTTTT others(44): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 416 | 0.0024 | 51 | c.151 others(66): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000304494.10 | protein_coding | 1/2 | chr9 | TogoVar | ||||||
CDKN2A_chr9_21962752_21999392 | 21971575 | A | ATTTTTTT others(44): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 404 | 0.0025 | 51 | c.194 others(66): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11107864 | A | ACCATCTC others(44): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0162 | 1 | 194 | 0.0052 | 51 | c.75- others(68): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11108050 | A | ACCTCTCC others(44): Show |
intron_variant | MODIFIER | HG02897.hp1 HG02922.hp2 HG02970.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0017others(3): Show | a0001c0001t0003g0007a0001c0001t0005g0006a0001c0001t0017g0004others(3): Show | 6 | 194 | 0.0309 | 51 | c.75- others(68): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11197025 | A | AAGGAAGG others(44): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01074.hp2 HG01175.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0032others(6): Show | a0001c0001t0001g0177a0001c0001t0002g0172a0001c0001t0032g0075others(7): Show | 10 | 194 | 0.0516 | 51 | c.272 others(70): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11197025 | A | AAGGAAGG others(44): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01891.hp2 HG02258.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0002t0014a0001c0003t0001 | a0001c0001t0003g0149a0001c0002t0014g0050a0001c0003t0001g0046 | 3 | 194 | 0.0155 | 51 | c.272 others(70): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11284292 | T | TGTGGTGG others(44): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(58): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(24): Show | a0001c0001t0001g0086a0001c0001t0001g0092a0001c0001t0001g0097others(58): Show | 61 | 194 | 0.3144 | 51 | c.842 others(68): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 8/12 | chr10 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46502375 | A | AAAGGGGA others(44): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01081.hp2 others(13): Show |
a0001a0004a0005others(8): Show | a0001c0001a0001c0025a0001c0029others(11): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0016others(13): Show | a0001c0001t0001g0049a0001c0001t0012g0034a0001c0001t0016g0069others(13): Show | 16 | 104 | 0.1539 | 51 | c.354 others(72): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46502382 | A | AGGGAAGG others(44): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG00642.hp2 others(25): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0004a0001c0006others(22): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(22): Show | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0087others(25): Show | 28 | 104 | 0.2692 | 51 | c.354 others(72): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80729058 | G | GTGTGTGT others(44): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 164 | 0.0061 | 51 | c.280 others(72): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP170B_chr14_104860268_104901747 | 104884588 | G | GGGGGGGT others(44): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02257.hp2 HG02451.hp1 others(6): Show |
a0001a0026 | a0001c0002a0001c0020a0001c0032others(4): Show | a0001c0002t0002a0001c0020t0002a0001c0032t0024others(4): Show | a0001c0002t0002g0197a0001c0020t0002g0026a0001c0020t0002g0160others(6): Show | 9 | 328 | 0.0274 | 51 | c.177 others(68): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CEP170B_chr14_104860268_104901747 | 104884653 | G | GATGCCGG others(44): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01069.hp2 HG01071.hp2 others(2): Show |
a0001 | a0001c0017a0001c0019 | a0001c0017t0002a0001c0019t0002 | a0001c0017t0002g0173a0001c0017t0002g0174a0001c0019t0002g0167others(2): Show | 5 | 328 | 0.0152 | 51 | c.177 others(68): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CEP170B_chr14_104860268_104901747 | 104884703 | T | TGATGCCG others(44): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 328 | 0.0031 | 51 | c.177 others(68): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CEP170B_chr14_104860268_104901747 | 104884793 | G | GGGGGGGT others(44): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01069.hp2 HG01071.hp2 others(11): Show |
a0001a0003a0026 | a0001c0017a0001c0019a0001c0020others(5): Show | a0001c0017t0002a0001c0019t0002a0001c0020t0002others(5): Show | a0001c0017t0002g0170a0001c0017t0002g0173a0001c0017t0002g0174others(11): Show | 14 | 328 | 0.0427 | 51 | c.177 others(68): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CEP295NL_chr17_78885579_78908201 | 78904108 | T | TGTGTGTG others(44): Show |
upstream_gene_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 1 | 430 | 0.0023 | 51 | c.-10 others(62): Show |
CEP295NL | ENSG00000178404.11 | transcript | ENST00000322630.3 | protein_coding | 908 | chr17 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GGGGGGGG others(44): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0010 | 1 | 302 | 0.0033 | 51 | c.232 others(70): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118600324 | T | TGTGTGTG others(44): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0041 | 1 | 302 | 0.0033 | 51 | c.232 others(70): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar |