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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CELSR1_chr22_46356174_46542620 | 46531185 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG00639.hp2 others(9): Show |
a0001a0004a0014others(2): Show | a0001c0001a0001c0002a0004c0033others(3): Show | a0001c0001t0001a0001c0002t0001a0004c0033t0002others(3): Show | a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0049 others(9): Show |
12 | 104 | 0.1154 | 8 | c.354 others(27): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CELSR2_chr1_109244539_109280751 | 109244957 | A | AGGATGGA others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00609.hp2 others(73): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0013others(20): Show | a0001c0001t0001a0001c0003t0003a0001c0003t0009others(30): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0081 others(57): Show |
76 | 356 | 0.2135 | 8 | c.-51 others(19): Show |
CELSR2 | ENSG00000143126.8 | transcript | ENST00000271332.4 | protein_coding | 4581 | chr1 | TogoVar | |||||||
CEL_chr9_133056981_133076861 | 133062705 | C | CACCTACC others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01257.hp2 HG01258.hp1 others(43): Show |
a0001a0002a0003others(23): Show | a0001c0002a0002c0210a0003c0080others(38): Show | a0001c0002t0001a0002c0210t0001a0003c0080t0001others(38): Show | a0001c0002t0001g0023 a0002c0210t0001g0015 a0003c0080t0001g0010 others(41): Show |
46 | 416 | 0.1106 | 8 | c.66+ others(21): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71683549 | C | CACACTCA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01081.hp1 HG02056.hp2 HG02071.hp2 others(27): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0012a0002c0007others(7): Show | a0001c0001t0007a0001c0001t0008a0001c0001t0020others(15): Show | a0001c0001t0007g0094 a0001c0001t0007g0213 a0001c0001t0007g0221 others(27): Show |
30 | 320 | 0.0938 | 8 | c.*16 others(19): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 24/24 | 1647 | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71687462 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00609.hp2 others(78): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0009a0001c0042others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(25): Show | a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0001g0143 others(78): Show |
81 | 320 | 0.2531 | 8 | c.385 others(27): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 22/23 | chr9 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71692365 | A | ATCTCTCT others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02129.hp2 HG02132.hp2 others(26): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0002c0007others(9): Show | a0001c0001t0002a0001c0001t0029a0002c0002t0017others(13): Show | a0001c0001t0002g0300 a0001c0001t0029g0013 a0002c0002t0017g0042 others(26): Show |
29 | 320 | 0.0906 | 8 | c.369 others(27): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 21/23 | chr9 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71694099 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG01884.hp1 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0010others(3): Show | a0001c0001t0001g0301 a0001c0001t0001g0310 a0001c0001t0001g0311 others(8): Show |
11 | 320 | 0.0344 | 8 | c.369 others(25): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 21/23 | chr9 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71719842 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01192.hp1 HG01433.hp1 others(26): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0012a0001c0029others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(16): Show | a0001c0001t0001g0159 a0001c0001t0001g0196 a0001c0001t0001g0200 others(26): Show |
29 | 320 | 0.0906 | 8 | c.226 others(27): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 12/23 | chr9 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71728271 | A | ATATACAC others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG01099.hp1 others(27): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0012a0002c0002others(5): Show | a0001c0001t0001a0001c0012t0020a0001c0012t0045others(13): Show | a0001c0001t0001g0255 a0001c0001t0001g0309 a0001c0012t0020g0267 others(27): Show |
30 | 320 | 0.0938 | 8 | c.204 others(27): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 10/23 | chr9 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71728815 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02055.hp1 HG02109.hp2 others(6): Show |
a0001a0002a0007 | a0001c0012a0002c0002a0002c0008others(1): Show | a0001c0012t0007a0001c0012t0020a0001c0012t0045others(5): Show | a0001c0012t0007g0229 a0001c0012t0020g0267 a0001c0012t0045g0281 others(6): Show |
9 | 320 | 0.0281 | 8 | c.204 others(27): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 10/23 | chr9 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71734208 | G | GGTTTTTT others(1): Show |
intron_variant | MODIFIER | HG03225.hp1 HG04115.hp2 NA19000.hp1 |
a0005 | a0005c0004a0005c0017 | a0005c0004t0011a0005c0004t0031a0005c0017t0048 | a0005c0004t0011g0017 a0005c0004t0031g0004 a0005c0017t0048g0292 |
3 | 320 | 0.0094 | 8 | c.139 others(25): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 6/23 | chr9 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71755346 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01123.hp2 HG01175.hp2 others(18): Show |
a0002a0005a0007others(1): Show | a0002c0002a0005c0004a0005c0017others(3): Show | a0002c0002t0016a0005c0004t0007a0005c0004t0011others(9): Show | a0002c0002t0016g0049 a0005c0004t0007g0131 a0005c0004t0011g0005 others(18): Show |
21 | 320 | 0.0656 | 8 | c.-12 others(25): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 1/23 | chr9 | TogoVar | |||||||
CEMIP_chr15_80774370_80956771 | 80786556 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01099.hp1 HG01168.hp1 others(21): Show |
a0001a0003a0010 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(14): Show | a0001c0001t0001g0015 a0001c0001t0001g0084 a0001c0001t0001g0085 others(21): Show |
24 | 254 | 0.0945 | 8 | c.-17 others(27): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80800021 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG01099.hp1 others(23): Show |
a0001a0004a0009others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0015 others(23): Show |
26 | 254 | 0.1024 | 8 | c.-17 others(29): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80829965 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02970.hp1 HG03471.hp2 others(4): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0023 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0141 a0001c0001t0001g0158 a0001c0001t0001g0240 others(4): Show |
7 | 254 | 0.0276 | 8 | c.-17 others(29): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80829990 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | NA18954.hp2 NA18959.hp1 NA18994.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0002a0002c0004t0001 | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0082 others(3): Show |
6 | 254 | 0.0236 | 8 | c.-17 others(29): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80832322 | C | CTCTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG01074.hp1 others(33): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(15): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0020 others(33): Show |
36 | 254 | 0.1417 | 8 | c.-17 others(29): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80832322 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02559.hp1 HG02976.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0002others(4): Show | a0001c0001t0001g0009 a0001c0001t0001g0171 a0001c0001t0010g0131 others(5): Show |
8 | 254 | 0.0315 | 8 | c.-17 others(29): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80839289 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02004.hp2 HG02109.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0002g0169 a0001c0001t0004g0062 a0001c0001t0006g0104 others(9): Show |
12 | 254 | 0.0472 | 8 | c.-17 others(29): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80848900 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01257.hp1 others(11): Show |
a0001a0004a0006 | a0001c0001a0004c0015a0006c0016 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0035 a0001c0001t0001g0097 a0001c0001t0001g0109 others(11): Show |
14 | 254 | 0.0551 | 8 | c.-17 others(29): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80866592 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01106.hp2 HG02257.hp2 others(12): Show |
a0001a0002a0010others(1): Show | a0001c0001a0001c0003a0001c0011others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0004others(5): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 others(12): Show |
15 | 254 | 0.0591 | 8 | c.-17 others(27): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80900585 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02486.hp1 HG02630.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0002g0200 a0001c0002t0001g0006 a0001c0002t0001g0235 others(3): Show |
6 | 254 | 0.0236 | 8 | c.141 others(27): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CENATAC_chr11_118993138_119020793 | 119006137 | A | AGTACAGT others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02486.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0041 a0001c0001t0001g0042 others(3): Show |
7 | 318 | 0.0220 | 8 | c.384 others(25): Show |
CENATAC | ENSG00000186166.9 | transcript | ENST00000334418.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CENPB_chr20_3778851_3791740 | 3780312 | C | CGACAAGA others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00642.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 410 | 0.0122 | 8 | c.*43 others(19): Show |
CENPB | ENSG00000125817.8 | transcript | ENST00000379751.5 | protein_coding | 3538 | chr20 | TogoVar | |||||||
CENPB_chr20_3778851_3791740 | 3788142 | A | AAAAGAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00673.hp1 others(90): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(6): Show |
93 | 410 | 0.2268 | 8 | c.-16 others(19): Show |
CENPB | ENSG00000125817.8 | transcript | ENST00000379751.5 | protein_coding | 1403 | chr20 | TogoVar | |||||||
CENPC_chr4_67463762_67550503 | 67491466 | T | TAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 NA18986.hp1 NA19010.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0021 a0002c0002t0002g0046 a0002c0002t0002g0047 |
3 | 338 | 0.0089 | 8 | c.251 others(25): Show |
CENPC | ENSG00000145241.11 | transcript | ENST00000273853.11 | protein_coding | 16/18 | chr4 | TogoVar | |||||||
CENPC_chr4_67463762_67550503 | 67491474 | T | TAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 NA18989.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0007 | a0001c0001t0001g0262 a0001c0001t0001g0263 a0002c0002t0002g0037 others(2): Show |
5 | 338 | 0.0148 | 8 | c.251 others(25): Show |
CENPC | ENSG00000145241.11 | transcript | ENST00000273853.11 | protein_coding | 16/18 | chr4 | TogoVar | |||||||
CENPC_chr4_67463762_67550503 | 67491476 | T | TAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG04199.hp1 NA18967.hp2 NA19088.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0042 a0002c0002t0002g0058 a0002c0002t0003g0233 |
3 | 338 | 0.0089 | 8 | c.251 others(25): Show |
CENPC | ENSG00000145241.11 | transcript | ENST00000273853.11 | protein_coding | 16/18 | chr4 | TogoVar | |||||||
CENPC_chr4_67463762_67550503 | 67491480 | T | TATAGAGA others(1): Show |
intron_variant | MODIFIER | HG03225.hp2 HG03927.hp2 NA18975.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0011 | a0001c0001t0001g0156 a0002c0002t0002g0036 a0002c0002t0011g0062 |
3 | 338 | 0.0089 | 8 | c.251 others(25): Show |
CENPC | ENSG00000145241.11 | transcript | ENST00000273853.11 | protein_coding | 16/18 | chr4 | TogoVar | |||||||
CENPC_chr4_67463762_67550503 | 67491511 | A | AGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG00597.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0124 a0001c0001t0001g0172 a0001c0001t0001g0173 others(11): Show |
14 | 338 | 0.0414 | 8 | c.251 others(25): Show |
CENPC | ENSG00000145241.11 | transcript | ENST00000273853.11 | protein_coding | 16/18 | chr4 | TogoVar | |||||||
CENPC_chr4_67463762_67550503 | 67521022 | C | CAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(51): Show |
a0002a0005a0012 | a0002c0002a0005c0005a0012c0014 | a0002c0002t0002a0002c0002t0007a0002c0002t0010others(4): Show | a0002c0002t0002g0003 a0002c0002t0002g0021 a0002c0002t0002g0022 others(50): Show |
54 | 338 | 0.1598 | 8 | c.332 others(25): Show |
CENPC | ENSG00000145241.11 | transcript | ENST00000273853.11 | protein_coding | 5/18 | chr4 | TogoVar | |||||||
CENPE_chr4_103100811_103203343 | 103116251 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00642.hp1 others(23): Show |
a0001a0003a0008others(1): Show | a0001c0014a0003c0003a0008c0009others(1): Show | a0001c0014t0001a0003c0003t0001a0008c0009t0001others(1): Show | a0001c0014t0001g0150 a0001c0014t0001g0151 a0003c0003t0001g0066 others(23): Show |
26 | 320 | 0.0813 | 8 | c.744 others(25): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 45/48 | chr4 | TogoVar | |||||||
CENPE_chr4_103100811_103203343 | 103132960 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 NA18968.hp1 NA21309.hp2 |
a0001a0003 | a0001c0004a0003c0003 | a0001c0004t0001a0003c0003t0001 | a0001c0004t0001g0069 a0001c0004t0001g0088 a0003c0003t0001g0116 |
3 | 320 | 0.0094 | 8 | c.672 others(23): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 41/48 | chr4 | TogoVar | |||||||
CENPE_chr4_103100811_103203343 | 103165070 | T | TGCATAGA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00673.hp2 others(58): Show |
a0002a0007a0010others(4): Show | a0002c0002a0007c0010a0010c0012others(4): Show | a0002c0002t0001a0007c0010t0001a0010c0012t0001others(4): Show | a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0011 others(54): Show |
61 | 320 | 0.1906 | 8 | c.164 others(27): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 16/48 | chr4 | TogoVar | |||||||
CENPH_chr5_69184583_69215357 | 69188066 | T | TTTTGTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG02451.hp2 NA20129.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0179 a0001c0001t0002g0006 a0001c0001t0006g0040 others(1): Show |
4 | 388 | 0.0103 | 8 | c.-15 others(19): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 1516 | chr5 | TogoVar | |||||||
CENPI_chrX_101093204_101171126 | 101099046 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(72): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0223 a0001c0001t0002g0208 a0001c0001t0003g0190 others(71): Show |
75 | 282 | 0.2660 | 8 | c.-14 others(23): Show |
CENPI | ENSG00000102384.14 | transcript | ENST00000682095.1 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CENPI_chrX_101093204_101171126 | 101102516 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG02647.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005a0001c0002t0006others(1): Show | a0001c0002t0002g0263 a0001c0002t0002g0265 a0001c0002t0002g0266 others(7): Show |
10 | 282 | 0.0355 | 8 | c.364 others(23): Show |
CENPI | ENSG00000102384.14 | transcript | ENST00000682095.1 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CENPI_chrX_101093204_101171126 | 101116941 | T | TTGAGCAA others(1): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 282 | 0.0036 | 8 | c.592 others(25): Show |
CENPI | ENSG00000102384.14 | transcript | ENST00000682095.1 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CENPI_chrX_101093204_101171126 | 101124090 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02809.hp2 NA18964.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0005 | a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0079 others(2): Show |
5 | 282 | 0.0177 | 8 | c.688 others(25): Show |
CENPI | ENSG00000102384.14 | transcript | ENST00000682095.1 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CENPJ_chr13_24877279_24927861 | 24881859 | G | GATACATC others(1): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG01257.hp2 HG02074.hp2 others(3): Show |
a0001a0012 | a0001c0002a0012c0017 | a0001c0002t0001a0001c0002t0007a0012c0017t0001 | a0001c0002t0001g0258 a0001c0002t0007g0028 a0001c0002t0007g0276 others(1): Show |
6 | 440 | 0.0136 | 8 | c.*13 others(19): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 419 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24881881 | G | GATACATC others(1): Show |
downstream_gene_variant | MODIFIER | HG01358.hp1 HG02056.hp2 HG03834.hp1 others(1): Show |
a0001a0012 | a0001c0002a0001c0004a0012c0017 | a0001c0002t0001a0001c0004t0001a0012c0017t0001 | a0001c0002t0001g0002 a0001c0004t0001g0008 a0001c0004t0001g0012 others(1): Show |
4 | 440 | 0.0091 | 8 | c.*12 others(19): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 397 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24881903 | G | GATACATC others(1): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 HG04115.hp1 NA19003.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001a0001c0002t0007 | a0001c0001t0004g0092 a0001c0002t0001g0241 a0001c0002t0007g0233 |
3 | 440 | 0.0068 | 8 | c.*12 others(19): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 375 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24881925 | G | GATACATC others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG02257.hp1 HG02683.hp2 others(1): Show |
a0001 | a0001c0002a0001c0023 | a0001c0002t0007a0001c0023t0004 | a0001c0002t0007g0231 a0001c0002t0007g0235 a0001c0002t0007g0274 others(1): Show |
4 | 440 | 0.0091 | 8 | c.*12 others(19): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 353 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24882133 | G | GATAGATA others(1): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00741.hp1 others(22): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0023a0002c0003others(5): Show | a0001c0001t0004a0001c0023t0004a0002c0003t0003others(5): Show | a0001c0001t0004g0015 a0001c0001t0004g0042 a0001c0001t0004g0133 others(19): Show |
25 | 440 | 0.0568 | 8 | c.*10 others(19): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 145 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24882151 | G | GATAGATA others(1): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00558.hp2 others(64): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0023a0001c0026others(7): Show | a0001c0001t0004a0001c0001t0006a0001c0023t0004others(9): Show | a0001c0001t0004g0015 a0001c0001t0004g0042 a0001c0001t0004g0043 others(50): Show |
67 | 440 | 0.1523 | 8 | c.*10 others(19): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 127 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24882169 | G | GATAGATA others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(95): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0023a0002c0003others(6): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0014others(10): Show | a0001c0001t0004g0015 a0001c0001t0004g0042 a0001c0001t0004g0043 others(70): Show |
98 | 440 | 0.2227 | 8 | c.*10 others(19): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 109 | chr13 | TogoVar | |||||||
CENPK_chr5_65512766_65568168 | 65514228 | A | ATATTTTT others(1): Show |
downstream_gene_variant | MODIFIER | NA18948.hp1 NA18980.hp2 NA20300.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0290 others(1): Show |
4 | 374 | 0.0107 | 8 | c.*42 others(19): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 3537 | chr5 | TogoVar | |||||||
CENPN_chr16_81002214_81036485 | 81025689 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02976.hp1 NA18948.hp1 NA18965.hp1 others(4): Show |
a0002 | a0002c0001 | a0002c0001t0008a0002c0001t0023 | a0002c0001t0008g0031 a0002c0001t0008g0049 a0002c0001t0008g0090 others(3): Show |
7 | 398 | 0.0176 | 8 | c.698 others(23): Show |
CENPN | ENSG00000166451.14 | transcript | ENST00000305850.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CENPN_chr16_81002214_81036485 | 81026065 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02257.hp2 HG02523.hp2 others(7): Show |
a0002 | a0002c0001 | a0002c0001t0008a0002c0001t0023 | a0002c0001t0008g0017 a0002c0001t0008g0031 a0002c0001t0008g0089 others(5): Show |
10 | 398 | 0.0251 | 8 | c.698 others(23): Show |
CENPN | ENSG00000166451.14 | transcript | ENST00000305850.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CENPN_chr16_81002214_81036485 | 81026067 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | NA18946.hp1 NA18961.hp2 NA18985.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0050 | a0001c0002t0001g0013 a0001c0002t0001g0107 a0001c0002t0001g0134 others(1): Show |
6 | 398 | 0.0151 | 8 | c.698 others(23): Show |
CENPN | ENSG00000166451.14 | transcript | ENST00000305850.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |