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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CENPK_chr5_65512766_65568168 | 65526206 | GTTGAAAA others(4): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(179): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0016others(166): Show | 182 | 374 | 0.4866 | -11 | c.597 others(28): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 9/10 | chr5 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41945160 | GCCTACGG others(4): Show |
G | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0133 | 1 | 258 | 0.0039 | -11 | c.310 others(24): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 4/5 | chr22 | TogoVar | ||||||
CENPN_chr16_81002214_81036485 | 81025689 | CTCTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00597.hp2 others(91): Show |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0003a0002c0001t0006others(13): Show | a0002c0001t0002g0003a0002c0001t0002g0009a0002c0001t0002g0022others(53): Show | 94 | 398 | 0.2362 | -11 | c.698 others(26): Show |
CENPN | ENSG00000166451.14 | transcript | ENST00000305850.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CENPO_chr2_24788425_24827376 | 24825340 | GGGGGGGG others(4): Show |
G | downstream_gene_variant | MODIFIER | HG02647.hp1 NA19000.hp1 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0118a0001c0001t0001g0120a0001c0001t0010g0230 | 3 | 382 | 0.0079 | -11 | c.*60 others(22): Show |
CENPO | ENSG00000138092.11 | transcript | ENST00000380834.7 | protein_coding | 2965 | chr2 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92340238 | TGAAAAGG others(4): Show |
T | intron_variant | MODIFIER | HG01358.hp1 HG01884.hp2 HG02300.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0015a0001c0001t0008g0009a0001c0001t0008g0010others(4): Show | 7 | 260 | 0.0269 | -11 | c.378 others(28): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92365406 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0002 | 1 | 260 | 0.0039 | -11 | c.468 others(30): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92372099 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG02647.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0111a0001c0001t0001g0112a0001c0001t0011g0179others(1): Show | 4 | 260 | 0.0154 | -11 | c.468 others(28): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92562202 | CTTTTCTT others(4): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02257.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0028a0003c0003t0018a0003c0003t0022 | a0001c0001t0028g0178a0003c0003t0018g0006a0003c0003t0022g0007 | 3 | 260 | 0.0115 | -11 | c.565 others(30): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92565293 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0033 | 1 | 260 | 0.0039 | -11 | c.565 others(30): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPQ_chr6_49458370_49498107 | 49470622 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02895.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0012a0002c0002t0002g0224a0002c0002t0002g0225 | 6 | 362 | 0.0166 | -11 | c.103 others(26): Show |
CENPQ | ENSG00000031691.7 | transcript | ENST00000335783.4 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CENPS_chr1_10425433_10447808 | 10442897 | CTTTTTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG01981.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007a0001c0001t0003g0036a0001c0001t0003g0037others(11): Show | 23 | 410 | 0.0561 | -11 | c.*49 others(20): Show |
CENPS | ENSG00000175279.22 | transcript | ENST00000309048.8 | protein_coding | 90 | chr1 | TogoVar | ||||||
CENPT_chr16_67823157_67852693 | 67850981 | AGTAGAGA others(4): Show |
A | upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 266 | 0.0038 | -11 | c.-40 others(22): Show |
CENPT | ENSG00000102901.13 | transcript | ENST00000562787.6 | protein_coding | 3289 | chr16 | TogoVar | ||||||
CENPU_chr4_184689085_184739096 | 184692471 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG02055.hp1 HG03516.hp2 NA19030.hp1 |
a0001a0005a0010 | a0001c0001a0005c0005a0010c0013 | a0001c0001t0017a0005c0005t0016a0010c0013t0005 | a0001c0001t0017g0149a0005c0005t0016g0286a0010c0013t0005g0125 | 3 | 358 | 0.0084 | -11 | c.*28 others(22): Show |
CENPU | ENSG00000151725.12 | transcript | ENST00000281453.10 | protein_coding | 1613 | chr4 | TogoVar | ||||||
CENPU_chr4_184689085_184739096 | 184703385 | ACTGCCTC others(4): Show |
A | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0173 | 3 | 358 | 0.0084 | -11 | c.798 others(26): Show |
CENPU | ENSG00000151725.12 | transcript | ENST00000281453.10 | protein_coding | 8/12 | chr4 | TogoVar | ||||||
CENPVL2_chrX_51676212_51687831 | 51685832 | GTGTGTGT others(4): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp1 HG01168.hp2 HG01981.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 237 | 0.0211 | -11 | c.-30 others(22): Show |
CENPVL2 | ENSG00000283093.1 | transcript | ENST00000634648.1 | protein_coding | 3002 | chrX | TogoVar | ||||||
CEP104_chr1_3807086_3862211 | 3846086 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0292 | 1 | 382 | 0.0026 | -11 | c.427 others(26): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 4/21 | chr1 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65659015 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02717.hp2 others(3): Show |
a0001a0002a0005 | a0001c0002a0002c0001a0002c0008others(1): Show | a0001c0002t0001a0002c0001t0001a0002c0008t0001others(1): Show | a0001c0002t0001g0020a0001c0002t0001g0081a0002c0001t0001g0064others(3): Show | 6 | 112 | 0.0536 | -11 | c.269 others(32): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 24/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65756405 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0054 | 1 | 112 | 0.0089 | -11 | c.239 others(30): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 21/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65813507 | TGCTTGGA others(4): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01123.hp1 HG01255.hp1 others(2): Show |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0002a0002c0001t0004 | a0002c0001t0001g0016a0002c0001t0001g0028a0002c0001t0001g0052others(2): Show | 5 | 112 | 0.0446 | -11 | c.239 others(32): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 21/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65969911 | TACATGCA others(4): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG02976.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020a0001c0002t0001g0021 | 2 | 112 | 0.0179 | -11 | c.173 others(30): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 17/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65971150 | ATACATGT others(4): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0019 | 1 | 112 | 0.0089 | -11 | c.173 others(30): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 17/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65971162 | TACATGTA others(4): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00642.hp2 others(38): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0003c0005t0001 | a0001c0002t0001g0011a0001c0002t0001g0014a0001c0002t0001g0020others(38): Show | 41 | 112 | 0.3661 | -11 | c.173 others(30): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 17/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65971593 | ATGCATAT others(4): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00642.hp2 others(35): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0003c0005t0001 | a0001c0002t0001g0011a0001c0002t0001g0014a0001c0002t0001g0034others(35): Show | 38 | 112 | 0.3393 | -11 | c.173 others(31): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 17/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66078247 | CTTTTCTT others(4): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00735.hp1 others(28): Show |
a0001a0003 | a0001c0002a0001c0003a0003c0005 | a0001c0002t0001a0001c0003t0001a0003c0005t0001 | a0001c0002t0001g0011a0001c0002t0001g0020a0001c0002t0001g0021others(28): Show | 31 | 112 | 0.2768 | -11 | c.769 others(28): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 8/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66132168 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0083 | 1 | 112 | 0.0089 | -11 | c.564 others(26): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 5/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66149877 | TTTGTTTG others(4): Show |
T | intron_variant | MODIFIER | HG01346.hp1 HG01346.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0086a0001c0003t0001g0006 | 2 | 112 | 0.0179 | -11 | c.471 others(30): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 4/26 | chr17 | TogoVar | ||||||
CEP120_chr5_123339892_123428403 | 123393675 | AAGAGTCG others(4): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0016 | a0001c0016t0002 | a0001c0016t0002g0210 | 1 | 376 | 0.0027 | -11 | c.613 others(26): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 5/19 | chr5 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101910423 | AAATATAT others(4): Show |
A | upstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0303 | 1 | 336 | 0.0030 | -11 | c.-48 others(22): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 4586 | chr11 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81189273 | CAGGAACG others(4): Show |
C | downstream_gene_variant | MODIFIER | NA19089.hp1 | a0036 | a0036c0060 | a0036c0060t0001 | a0036c0060t0001g0172 | 1 | 384 | 0.0026 | -11 | c.*48 others(20): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 322 | chr17 | TogoVar | ||||||
CEP135_chr4_55943945_56038361 | 55961764 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG02258.hp2 NA19240.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0020 | a0001c0001t0013g0269a0001c0001t0013g0270a0001c0001t0020g0268 | 3 | 346 | 0.0087 | -11 | c.699 others(28): Show |
CEP135 | ENSG00000174799.12 | transcript | ENST00000257287.5 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CEP162_chr6_84119250_84232643 | 84159545 | ATATTTTT others(4): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp2 HG02622.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0028a0001c0001t0002g0031others(4): Show | 8 | 214 | 0.0374 | -11 | c.278 others(30): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 21/26 | chr6 | TogoVar | ||||||
CEP162_chr6_84119250_84232643 | 84159547 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG03139.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0030a0001c0004t0002g0190 | 2 | 214 | 0.0094 | -11 | c.278 others(30): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 21/26 | chr6 | TogoVar | ||||||
CEP170B_chr14_104860268_104901747 | 104860386 | CTCCACCC others(4): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00673.hp1 others(43): Show |
a0001a0007a0016others(1): Show | a0001c0001a0001c0010a0001c0013others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(10): Show | a0001c0001t0001g0016a0001c0001t0001g0038a0001c0001t0001g0040others(37): Show | 46 | 328 | 0.1402 | -11 | c.-51 others(22): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 4881 | chr14 | TogoVar | ||||||
CEP170B_chr14_104860268_104901747 | 104889951 | TGAATGGA others(4): Show |
T | intron_variant | MODIFIER | HG03041.hp1 | a0018 | a0018c0068 | a0018c0068t0019 | a0018c0068t0019g0080 | 1 | 328 | 0.0031 | -11 | c.387 others(28): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 13/18 | chr14 | TogoVar | ||||||
CEP170_chr1_243119428_243260281 | 243243058 | TACACCAC others(4): Show |
T | intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 303 | 0.0033 | -11 | c.-42 others(30): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
CEP19_chr3_196701277_196717250 | 196710842 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG02040.hp2 HG02056.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0016others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0033a0001c0001t0001g0077others(4): Show | 29 | 432 | 0.0671 | -11 | c.-71 others(28): Show |
CEP19 | ENSG00000174007.9 | transcript | ENST00000409690.5 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
CEP20_chr16_15860719_15893603 | 15871920 | CGTTTCCT others(4): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG00735.hp1 others(66): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0004a0002c0002t0008a0002c0002t0012others(2): Show | a0002c0002t0004g0008a0002c0002t0004g0009a0002c0002t0004g0012others(35): Show | 69 | 433 | 0.1594 | -11 | c.448 others(28): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 4/4 | chr16 | TogoVar | ||||||
CEP250_chr20_35450598_35524280 | 35471689 | GTTCCAGA others(4): Show |
G | intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0202 | 1 | 260 | 0.0039 | -11 | c.949 others(26): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | TogoVar | ||||||
CEP250_chr20_35450598_35524280 | 35485645 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0003 | a0003c0004 | a0003c0004t0025 | a0003c0004t0025g0028 | 1 | 260 | 0.0039 | -11 | c.258 others(30): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CEP290_chr12_88044016_88147088 | 88072288 | AGTTTTGA others(4): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(156): Show |
a0001a0002a0006others(7): Show | a0001c0001a0001c0008a0002c0002others(9): Show | a0001c0001t0001a0001c0008t0001a0002c0002t0001others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(144): Show | 159 | 234 | 0.6795 | -11 | c.571 others(28): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | TogoVar | ||||||
CEP295_chr11_93656682_93735358 | 93681403 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 354 | 0.0028 | -11 | c.765 others(28): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP295_chr11_93656682_93735358 | 93734789 | CTTAAGAG others(4): Show |
C | downstream_gene_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 354 | 0.0028 | -11 | c.*45 others(22): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 4432 | chr11 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180090545 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01169.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0036 | 1 | 248 | 0.0040 | -11 | c.642 others(28): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP41_chr7_130388771_130446016 | 130397506 | ATTTTTTT others(4): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0100 | 1 | 346 | 0.0029 | -11 | c.*13 others(22): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 11/11 | 1374 | chr7 | TogoVar | |||||
CEP41_chr7_130388771_130446016 | 130428428 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03516.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0166a0001c0001t0029g0167 | 2 | 346 | 0.0058 | -11 | c.34- others(24): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 1/10 | chr7 | TogoVar | ||||||
CEP41_chr7_130388771_130446016 | 130437784 | AAAAAGAA others(4): Show |
A | intron_variant | MODIFIER | HG02965.hp2 HG03209.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0016a0001c0001t0026 | a0001c0001t0008g0306a0001c0001t0016g0099a0001c0001t0026g0308 | 3 | 346 | 0.0087 | -11 | c.33+ others(26): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 1/10 | chr7 | TogoVar | ||||||
CEP43_chr6_166994397_167057718 | 167033099 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0116 | a0001c0001t0116g0067 | 1 | 376 | 0.0027 | -11 | c.102 others(28): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP43_chr6_166994397_167057718 | 167052883 | CTTTCTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 376 | 0.0027 | -11 | c.*12 others(24): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 166 | chr6 | TogoVar | ||||||
CEP44_chr4_174278911_174325328 | 174284730 | GCCTTTCT others(4): Show |
G | intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0295 | 1 | 388 | 0.0026 | -11 | c.-14 others(28): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CEP55_chr10_93491612_93534092 | 93526667 | AAGACTTG others(4): Show |
A | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 386 | 0.0026 | -11 | c.119 others(30): Show |
CEP55 | ENSG00000138180.16 | transcript | ENST00000371485.8 | protein_coding | 8/8 | chr10 | TogoVar |