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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP162_chr6_84119250_84232643 | 84170373 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG02615.hp2 others(13): Show |
a0002a0009a0010 | a0002c0002a0002c0016a0009c0019others(1): Show | a0002c0002t0002a0002c0002t0007a0002c0016t0002others(2): Show | a0002c0002t0002g0003a0002c0002t0002g0006a0002c0002t0002g0013others(12): Show | 16 | 214 | 0.0748 | -8 | c.228 others(25): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 17/26 | chr6 | TogoVar | ||||||
CEP162_chr6_84119250_84232643 | 84223500 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02818.hp2 HG02965.hp1 |
a0005a0006 | a0005c0010a0006c0013 | a0005c0010t0002a0006c0013t0002 | a0005c0010t0002g0163a0005c0010t0002g0164a0006c0013t0002g0113 | 3 | 214 | 0.0140 | -8 | c.58- others(23): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 2/26 | chr6 | TogoVar | ||||||
CEP164_chr11_117322854_117418266 | 117339515 | GTTTTTTG others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(64): Show |
a0002a0003a0005others(8): Show | a0002c0001a0003c0003a0003c0022others(9): Show | a0002c0001t0001a0003c0003t0002a0003c0003t0004others(12): Show | a0002c0001t0001g0056a0003c0003t0002g0128a0003c0003t0004g0006others(62): Show | 67 | 390 | 0.1718 | -8 | c.82+ others(21): Show |
CEP164 | ENSG00000110274.16 | transcript | ENST00000278935.8 | protein_coding | 3/32 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP170B_chr14_104860268_104901747 | 104889903 | CAAATGGA others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG01071.hp1 HG01496.hp1 others(14): Show |
a0001a0002a0017others(2): Show | a0001c0006a0001c0020a0001c0032others(10): Show | a0001c0006t0005a0001c0006t0007a0001c0020t0002others(11): Show | a0001c0006t0005g0023a0001c0006t0007g0024a0001c0020t0002g0026others(13): Show | 17 | 328 | 0.0518 | -8 | c.387 others(25): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 13/18 | chr14 | TogoVar | ||||||
CEP170B_chr14_104860268_104901747 | 104889945 | GATGGATG others(1): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG02258.hp1 HG02280.hp2 others(11): Show |
a0001 | a0001c0005a0001c0008a0001c0018others(2): Show | a0001c0005t0003a0001c0008t0003a0001c0018t0003others(2): Show | a0001c0005t0003g0014a0001c0005t0003g0260a0001c0008t0003g0014others(8): Show | 14 | 328 | 0.0427 | -8 | c.387 others(25): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CEP170_chr1_243119428_243260281 | 243119948 | TATCCATC others(1): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02273.hp1 others(3): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0001c0001t0002a0006c0008t0002 | a0001c0001t0001g0162a0001c0001t0001g0208a0001c0001t0001g0209others(3): Show | 6 | 303 | 0.0198 | -8 | c.*64 others(19): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 4479 | chr1 | TogoVar | ||||||
CEP170_chr1_243119428_243260281 | 243226195 | CTAGATAT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(241): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0007a0001c0010others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(235): Show | 244 | 303 | 0.8053 | -8 | c.-41 others(23): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
CEP192_chr18_12986362_13130036 | 13000091 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG01071.hp2 others(57): Show |
a0005a0008a0014others(4): Show | a0005c0005a0008c0008a0014c0014others(4): Show | a0005c0005t0001a0008c0008t0001a0014c0014t0001others(4): Show | a0005c0005t0001g0013a0005c0005t0001g0015a0005c0005t0001g0116others(55): Show | 60 | 392 | 0.1531 | -8 | c.164 others(23): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 2/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CEP192_chr18_12986362_13130036 | 13002798 | TGTATTTG others(1): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG02976.hp2 HG03139.hp1 |
a0019a0035 | a0019c0019a0035c0044 | a0019c0019t0001a0035c0044t0001 | a0019c0019t0001g0166a0019c0019t0001g0167a0035c0044t0001g0165 | 3 | 392 | 0.0077 | -8 | c.290 others(25): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 3/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CEP192_chr18_12986362_13130036 | 13095989 | CAAGCAGT others(1): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG03041.hp2 HG03453.hp1 |
a0013 | a0013c0016a0013c0029 | a0013c0016t0003a0013c0029t0003 | a0013c0016t0003g0216a0013c0016t0003g0217a0013c0029t0003g0215 | 3 | 392 | 0.0077 | -8 | c.643 others(25): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 35/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CEP192_chr18_12986362_13130036 | 13122832 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp2 others(105): Show |
a0002a0004a0005others(13): Show | a0002c0001a0002c0022a0002c0023others(16): Show | a0002c0001t0001a0002c0022t0001a0002c0023t0001others(17): Show | a0002c0001t0001g0019a0002c0001t0001g0020a0002c0001t0001g0021others(100): Show | 108 | 392 | 0.2755 | -8 | c.747 others(27): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CEP20_chr16_15860719_15893603 | 15882545 | AACAAACA others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00735.hp1 HG01123.hp2 others(66): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0004a0002c0002t0008others(3): Show | a0001c0001t0001g0088a0002c0002t0004g0008a0002c0002t0004g0009others(35): Show | 69 | 433 | 0.1594 | -8 | c.226 others(25): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 2/4 | chr16 | TogoVar | ||||||
CEP20_chr16_15860719_15893603 | 15882731 | ATATCTAT others(1): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02976.hp2 NA18941.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0004 | a0001c0001t0005g0067a0001c0001t0005g0071a0002c0002t0004g0015others(4): Show | 10 | 433 | 0.0231 | -8 | c.226 others(25): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 2/4 | chr16 | TogoVar | ||||||
CEP250_chr20_35450598_35524280 | 35482048 | AATAGATA others(1): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG00738.hp2 HG00741.hp1 others(25): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0017others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0001g0010a0001c0001t0001g0152a0001c0001t0001g0179others(24): Show | 28 | 260 | 0.1077 | -8 | c.258 others(27): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CEP290_chr12_88044016_88147088 | 88133072 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(9): Show |
a0005 | a0005c0006a0005c0015 | a0005c0006t0001a0005c0015t0001 | a0005c0006t0001g0062a0005c0006t0001g0063a0005c0006t0001g0064others(9): Show | 12 | 234 | 0.0513 | -8 | c.442 others(25): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 179991707 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG02723.hp1 HG03453.hp2 NA19030.hp2 |
a0002a0008a0010 | a0002c0020a0008c0009a0010c0029 | a0002c0020t0019a0008c0009t0008a0010c0029t0010 | a0002c0020t0019g0010a0008c0009t0008g0008a0010c0029t0010g0011 | 3 | 248 | 0.0121 | -8 | c.236 others(23): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 180004873 | GGCTTGCT others(1): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp1 HG02717.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0016 | a0001c0001t0001g0189a0002c0002t0002g0245a0002c0002t0002g0247others(1): Show | 4 | 248 | 0.0161 | -8 | c.113 others(27): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 180007839 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG03490.hp1 HG03492.hp1 others(1): Show |
a0003a0006 | a0003c0003a0006c0006 | a0003c0003t0002a0006c0006t0002 | a0003c0003t0002g0086a0003c0003t0002g0102a0006c0006t0002g0231others(1): Show | 4 | 248 | 0.0161 | -8 | c.124 others(27): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 180090601 | GACATACC others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(97): Show |
a0001a0002a0014others(7): Show | a0001c0001a0001c0011a0001c0033others(10): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0014others(14): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(97): Show | 100 | 248 | 0.4032 | -8 | c.642 others(25): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP41_chr7_130388771_130446016 | 130392347 | GACACACA others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00558.hp1 HG01891.hp2 HG02486.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0021a0001c0001t0036others(5): Show | a0001c0001t0008g0291a0001c0001t0021g0020a0001c0001t0036g0293others(6): Show | 9 | 346 | 0.0260 | -8 | c.*65 others(19): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 1423 | chr7 | TogoVar | ||||||
CEP41_chr7_130388771_130446016 | 130407253 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG01934.hp1 HG02055.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0013a0004c0003t0067 | a0001c0001t0013g0007a0001c0001t0013g0028a0001c0001t0013g0029others(3): Show | 7 | 346 | 0.0202 | -8 | c.278 others(25): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 5/10 | chr7 | TogoVar | ||||||
CEP41_chr7_130388771_130446016 | 130428696 | AAGGTCAG others(1): Show |
A | intron_variant | MODIFIER | HG03490.hp2 HG03942.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0018a0001c0001t0004g0205 | 3 | 346 | 0.0087 | -8 | c.34- others(21): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 1/10 | chr7 | TogoVar | ||||||
CEP41_chr7_130388771_130446016 | 130437787 | AAGAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG02015.hp2 HG02074.hp1 HG02129.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0015others(5): Show | a0001c0001t0002g0010a0001c0001t0002g0051a0001c0001t0002g0052others(12): Show | 16 | 346 | 0.0462 | -8 | c.33+ others(23): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 1/10 | chr7 | TogoVar | ||||||
CEP43_chr6_166994397_167057718 | 167029067 | GTGTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00621.hp2 others(19): Show |
a0002a0006 | a0002c0002a0006c0007 | a0002c0002t0015a0002c0002t0035a0002c0002t0036others(14): Show | a0002c0002t0015g0037a0002c0002t0015g0038a0002c0002t0015g0039others(19): Show | 22 | 376 | 0.0585 | -8 | c.988 others(25): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP43_chr6_166994397_167057718 | 167037357 | CACTCAAT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(46): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(28): Show | a0001c0001t0002g0007a0001c0001t0002g0009a0001c0001t0002g0042others(43): Show | 49 | 376 | 0.1303 | -8 | c.112 others(27): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP44_chr4_174278911_174325328 | 174297651 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG02273.hp2 HG02622.hp1 HG02809.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0006a0002c0002t0012 | a0002c0002t0003g0200a0002c0002t0006g0100a0002c0002t0006g0101others(3): Show | 6 | 388 | 0.0155 | -8 | c.-14 others(25): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CEP44_chr4_174278911_174325328 | 174320684 | CTGTGTGT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG02486.hp1 HG02622.hp1 HG02886.hp2 others(4): Show |
a0002a0005 | a0002c0002a0005c0010 | a0002c0002t0006a0005c0010t0010 | a0002c0002t0006g0060a0002c0002t0006g0100a0002c0002t0006g0101others(4): Show | 7 | 388 | 0.0180 | -8 | c.*33 others(19): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 357 | chr4 | TogoVar | ||||||
CEP57L1_chr6_109090507_109179418 | 109120905 | GACACACG others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(24): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0025a0002c0002t0026others(8): Show | a0002c0002t0003g0001a0002c0002t0003g0013a0002c0002t0003g0014others(21): Show | 27 | 228 | 0.1184 | -8 | c.-3- others(25): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109120912 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00558.hp2 others(24): Show |
a0001a0007 | a0001c0001a0007c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0057others(3): Show | a0001c0001t0001g0037a0001c0001t0001g0058a0001c0001t0001g0060others(24): Show | 27 | 228 | 0.1184 | -8 | c.-3- others(25): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109142946 | GCTCTCTC others(1): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01884.hp2 others(22): Show |
a0001a0004a0005 | a0001c0001a0004c0004a0005c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0031a0001c0001t0001g0050a0001c0001t0001g0055others(22): Show | 25 | 228 | 0.1097 | -8 | c.-3- others(23): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109152636 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(127): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(45): Show | a0001c0001t0001g0031a0001c0001t0001g0034a0001c0001t0001g0036others(123): Show | 130 | 228 | 0.5702 | -8 | c.463 others(25): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109177637 | AATATATA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG03041.hp2 HG03540.hp1 NA19030.hp1 |
a0001a0002 | a0001c0007a0002c0002 | a0001c0007t0029a0002c0002t0030a0002c0002t0081 | a0001c0007t0029g0005a0002c0002t0030g0211a0002c0002t0081g0143 | 3 | 228 | 0.0132 | -8 | c.*14 others(21): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 3220 | chr6 | TogoVar | ||||||
CEP57L1_chr6_109090507_109179418 | 109178673 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(67): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(29): Show | a0001c0001t0001g0037a0001c0001t0001g0060a0001c0001t0001g0087others(65): Show | 70 | 228 | 0.3070 | -8 | c.*15 others(21): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 4256 | chr6 | TogoVar | ||||||
CEP63_chr3_134481057_134570031 | 134494092 | ATATTTAT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(197): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(17): Show | a0001c0001t0001g0008a0001c0001t0001g0129a0001c0001t0001g0130others(190): Show | 200 | 322 | 0.6211 | -8 | c.-25 others(25): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEP76_chr18_12667625_12707723 | 12695852 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp1 HG02895.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0033a0001c0001t0004g0177a0001c0001t0006g0059others(2): Show | 6 | 380 | 0.0158 | -8 | c.707 others(23): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 5/11 | chr18 | TogoVar | ||||||
CEP76_chr18_12667625_12707723 | 12705545 | AAGAGAGA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01257.hp1 HG01978.hp1 HG02132.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0053a0001c0001t0001g0142a0001c0001t0001g0156others(2): Show | 5 | 380 | 0.0132 | -8 | c.-30 others(19): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 2823 | chr18 | TogoVar | ||||||
CEP78_chr9_78231075_78284690 | 78236969 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG01358.hp1 HG01891.hp2 others(18): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0011a0001c0001t0013a0001c0001t0017others(9): Show | a0001c0001t0011g0104a0001c0001t0013g0006a0001c0001t0013g0106others(11): Show | 21 | 340 | 0.0618 | -8 | c.253 others(23): Show |
CEP78 | ENSG00000148019.14 | transcript | ENST00000643273.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CEP78_chr9_78231075_78284690 | 78271892 | CTTTTCTT others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02886.hp1 others(2): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0020a0001c0001t0084a0001c0009t0091 | a0001c0001t0020g0024a0001c0001t0020g0148a0001c0001t0084g0160others(1): Show | 5 | 340 | 0.0147 | -8 | c.*10 others(19): Show |
CEP78 | ENSG00000148019.14 | transcript | ENST00000643273.2 | protein_coding | 17/17 | 1062 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||
CEP83_chr12_94302698_94464867 | 94343470 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp1 HG00642.hp1 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(41): Show | 44 | 364 | 0.1209 | -8 | c.134 others(27): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 11/16 | chr12 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94376690 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02809.hp2 others(7): Show |
a0001a0004 | a0001c0001a0001c0006a0004c0007 | a0001c0001t0001a0001c0006t0001a0004c0007t0001 | a0001c0001t0001g0057a0001c0001t0001g0102a0001c0001t0001g0108others(7): Show | 10 | 364 | 0.0275 | -8 | c.802 others(23): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 7/16 | chr12 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94380083 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG01106.hp1 others(20): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0051a0001c0003t0001g0052a0001c0003t0001g0053others(20): Show | 23 | 364 | 0.0632 | -8 | c.550 others(25): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 6/16 | chr12 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94413825 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp2 NA19001.hp1 NA19083.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0073a0001c0003t0001g0125a0001c0003t0002g0115 | 3 | 364 | 0.0082 | -8 | c.-10 others(27): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 2/16 | chr12 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94417791 | AATACATA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01192.hp2 others(5): Show |
a0001a0003a0006 | a0001c0001a0003c0005a0006c0012 | a0001c0001t0001a0003c0005t0005a0006c0012t0008 | a0001c0001t0001g0058a0001c0001t0001g0246a0003c0005t0005g0354others(5): Show | 8 | 364 | 0.0220 | -8 | c.-10 others(27): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 2/16 | chr12 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118491194 | TATACACA others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG02630.hp2 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0014a0002c0002t0025 | a0002c0002t0002g0177a0002c0002t0002g0178a0002c0002t0002g0258others(8): Show | 11 | 302 | 0.0364 | -8 | c.143 others(25): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 6/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118519432 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00639.hp1 others(45): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0003a0004c0004others(3): Show | a0001c0001t0001a0003c0003t0003a0003c0003t0016others(4): Show | a0001c0001t0001g0070a0001c0001t0001g0156a0003c0003t0003g0001others(45): Show | 48 | 302 | 0.1589 | -8 | c.113 others(27): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118529608 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02280.hp1 others(5): Show |
a0006 | a0006c0006 | a0006c0006t0009a0006c0006t0021 | a0006c0006t0009g0244a0006c0006t0009g0246a0006c0006t0009g0247others(5): Show | 8 | 302 | 0.0265 | -8 | c.102 others(27): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118540754 | TTAAATAA others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00621.hp2 others(77): Show |
a0002a0003a0007 | a0002c0002a0002c0012a0003c0003others(1): Show | a0002c0002t0002a0002c0002t0005a0002c0002t0024others(11): Show | a0002c0002t0002g0174a0002c0002t0002g0175a0002c0002t0002g0177others(77): Show | 80 | 302 | 0.2649 | -8 | c.102 others(29): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118558626 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01891.hp1 HG01981.hp1 others(5): Show |
a0001a0003a0006others(1): Show | a0001c0001a0003c0003a0006c0006others(1): Show | a0001c0001t0001a0003c0003t0003a0006c0006t0009others(1): Show | a0001c0001t0001g0125a0003c0003t0003g0004a0003c0003t0003g0005others(5): Show | 8 | 302 | 0.0265 | -8 | c.102 others(27): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118558656 | CACACAGA others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01106.hp1 HG02040.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061a0001c0001t0001g0131a0001c0001t0001g0133others(5): Show | 8 | 302 | 0.0265 | -8 | c.102 others(27): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118567209 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01258.hp2 HG01261.hp1 others(7): Show |
a0001a0002a0012 | a0001c0001a0002c0002a0012c0009 | a0001c0001t0001a0002c0002t0002a0002c0002t0005others(2): Show | a0001c0001t0001g0055a0001c0001t0001g0116a0001c0001t0001g0127others(7): Show | 10 | 302 | 0.0331 | -8 | c.233 others(23): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar |