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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP128_chr14_80491479_80946738 | 80740551 | C | CAGATAGA others(1): Show |
intron_variant | MODIFIER | HG03195.hp1 NA19005.hp1 |
a0002a0011 | a0002c0002a0011c0018 | a0002c0002t0003a0011c0018t0004 | a0002c0002t0003g0081 a0011c0018t0004g0064 |
2 | 164 | 0.0122 | 8 | c.280 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80909371 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01433.hp2 HG01934.hp2 others(31): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0001c0009others(8): Show | a0001c0001t0004a0001c0001t0005a0001c0008t0005others(12): Show | a0001c0001t0004g0094 a0001c0001t0005g0002 a0001c0001t0005g0051 others(31): Show |
34 | 164 | 0.2073 | 8 | c.235 others(25): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 4/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80935556 | C | CAATAAAT others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02132.hp1 others(8): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0002a0001c0001t0006a0002c0002t0003others(6): Show | a0001c0001t0002g0157 a0001c0001t0006g0155 a0002c0002t0003g0078 others(8): Show |
11 | 164 | 0.0671 | 8 | c.-16 others(25): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 2/24 | chr14 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81225001 | C | CTTATTTA others(1): Show |
upstream_gene_variant | MODIFIER | HG01358.hp2 HG02630.hp1 HG02895.hp2 others(19): Show |
a0008a0012a0016others(5): Show | a0008c0006a0012c0015a0016c0038others(8): Show | a0008c0006t0001a0012c0015t0001a0016c0038t0001others(8): Show | a0008c0006t0001g0005 a0008c0006t0001g0022 a0008c0006t0001g0257 others(16): Show |
22 | 384 | 0.0573 | 8 | c.-22 others(19): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 2037 | chr17 | TogoVar | |||||||
CEP135_chr4_55943945_56038361 | 55961764 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02145.hp1 HG03579.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 a0001c0001t0002g0064 a0001c0001t0002g0065 others(10): Show |
14 | 346 | 0.0405 | 8 | c.699 others(25): Show |
CEP135 | ENSG00000174799.12 | transcript | ENST00000257287.5 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CEP135_chr4_55943945_56038361 | 56032847 | A | AGTGTGTG others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01243.hp2 HG02004.hp2 HG02300.hp1 others(6): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0011a0001c0001t0013a0001c0001t0014others(1): Show | a0001c0001t0011g0025 a0001c0001t0011g0026 a0001c0001t0013g0007 others(6): Show |
9 | 346 | 0.0260 | 8 | c.*15 others(19): Show |
CEP135 | ENSG00000174799.12 | transcript | ENST00000257287.5 | protein_coding | 26/26 | 8269 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CEP152_chr15_48732938_48816069 | 48758718 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01123.hp1 HG01884.hp2 others(41): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0006c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(3): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(39): Show |
44 | 342 | 0.1287 | 8 | c.269 others(27): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 19/26 | chr15 | TogoVar | |||||||
CEP152_chr15_48732938_48816069 | 48777466 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00621.hp1 others(37): Show |
a0001a0002a0010others(5): Show | a0001c0001a0002c0002a0010c0010others(5): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(6): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0028 others(35): Show |
40 | 342 | 0.1170 | 8 | c.157 others(27): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 12/26 | chr15 | TogoVar | |||||||
CEP152_chr15_48732938_48816069 | 48787163 | G | GTTTTTTG others(1): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01978.hp1 HG01993.hp1 others(11): Show |
a0001 | a0001c0001a0001c0007a0001c0014 | a0001c0001t0001a0001c0007t0001a0001c0014t0001 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(11): Show |
14 | 342 | 0.0409 | 8 | c.117 others(27): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 9/26 | chr15 | TogoVar | |||||||
CEP152_chr15_48732938_48816069 | 48787163 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(27): Show |
a0001a0015a0020others(1): Show | a0001c0001a0001c0017a0015c0032others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0035 others(26): Show |
30 | 342 | 0.0877 | 8 | c.117 others(27): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 9/26 | chr15 | TogoVar | |||||||
CEP162_chr6_84119250_84232643 | 84154312 | A | ATATCTAT others(1): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03209.hp1 |
a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0019 a0001c0011t0002g0020 |
2 | 214 | 0.0094 | 8 | c.299 others(25): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 22/26 | chr6 | TogoVar | |||||||
CEP162_chr6_84119250_84232643 | 84154330 | A | ATCTGTCT others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02615.hp2 HG02723.hp1 others(11): Show |
a0001a0002a0006 | a0001c0005a0001c0008a0002c0002others(2): Show | a0001c0005t0004a0001c0008t0005a0002c0002t0002others(3): Show | a0001c0005t0004g0005 a0001c0005t0004g0106 a0001c0005t0004g0195 others(11): Show |
14 | 214 | 0.0654 | 8 | c.299 others(25): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 22/26 | chr6 | TogoVar | |||||||
CEP162_chr6_84119250_84232643 | 84156743 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02717.hp1 HG02965.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0002a0001c0004t0002a0001c0008t0005 | a0001c0001t0002g0140 a0001c0004t0002g0103 a0001c0004t0002g0114 others(4): Show |
7 | 214 | 0.0327 | 8 | c.278 others(27): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 21/26 | chr6 | TogoVar | |||||||
CEP162_chr6_84119250_84232643 | 84201283 | C | CAACAAAC others(1): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02809.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 |
3 | 214 | 0.0140 | 8 | c.719 others(23): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 8/26 | chr6 | TogoVar | |||||||
CEP162_chr6_84119250_84232643 | 84206235 | G | GAACCAAA others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02258.hp1 others(16): Show |
a0001a0006 | a0001c0005a0001c0007a0001c0008others(1): Show | a0001c0005t0004a0001c0005t0005a0001c0007t0002others(2): Show | a0001c0005t0004g0005 a0001c0005t0004g0085 a0001c0005t0004g0086 others(16): Show |
19 | 214 | 0.0888 | 8 | c.572 others(25): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 6/26 | chr6 | TogoVar | |||||||
CEP164_chr11_117322854_117418266 | 117331981 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp2 others(11): Show |
a0002 | a0002c0001a0002c0042 | a0002c0001t0003a0002c0001t0009a0002c0042t0003 | a0002c0001t0003g0010 a0002c0001t0003g0012 a0002c0001t0003g0094 others(9): Show |
14 | 390 | 0.0359 | 8 | c.-97 others(25): Show |
CEP164 | ENSG00000110274.16 | transcript | ENST00000278935.8 | protein_coding | 1/32 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP164_chr11_117322854_117418266 | 117354766 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG02132.hp1 others(2): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0002c0001t0002 | a0001c0002t0002g0020 a0001c0002t0002g0339 a0001c0002t0002g0360 others(1): Show |
5 | 390 | 0.0128 | 8 | c.393 others(25): Show |
CEP164 | ENSG00000110274.16 | transcript | ENST00000278935.8 | protein_coding | 5/32 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP164_chr11_117322854_117418266 | 117416435 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG02559.hp1 HG03041.hp2 others(9): Show |
a0005a0009a0011others(3): Show | a0005c0007a0009c0019a0009c0020others(4): Show | a0005c0007t0006a0009c0019t0014a0009c0020t0019others(4): Show | a0005c0007t0006g0030 a0005c0007t0006g0265 a0005c0007t0006g0267 others(9): Show |
12 | 390 | 0.0308 | 8 | c.*42 others(19): Show |
CEP164 | ENSG00000110274.16 | transcript | ENST00000278935.8 | protein_coding | 3170 | chr11 | TogoVar | |||||||
CEP170B_chr14_104860268_104901747 | 104889905 | A | AATGGATG others(1): Show |
intron_variant | MODIFIER | HG01496.hp2 NA18952.hp1 NA19000.hp1 others(1): Show |
a0001 | a0001c0001a0001c0072 | a0001c0001t0001a0001c0072t0002 | a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0151 others(1): Show |
4 | 328 | 0.0122 | 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 | T | TACCCATC others(1): Show |
downstream_gene_variant | MODIFIER | HG01928.hp2 HG01993.hp2 HG02056.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0065 others(11): Show |
14 | 303 | 0.0462 | 8 | c.*65 others(19): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 4479 | chr1 | TogoVar | |||||||
CEP170_chr1_243119428_243260281 | 243159763 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01175.hp1 HG01358.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0003 | a0001c0001t0001g0032 a0001c0001t0001g0087 a0001c0001t0001g0088 others(5): Show |
8 | 303 | 0.0264 | 8 | c.367 others(27): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 13/19 | chr1 | TogoVar | |||||||
CEP170_chr1_243119428_243260281 | 243226187 | A | ATATATAC others(1): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02280.hp2 HG02486.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0003 | a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 others(11): Show |
14 | 303 | 0.0462 | 8 | c.-41 others(23): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
CEP170_chr1_243119428_243260281 | 243243497 | G | GATTTATT others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01106.hp1 HG01261.hp2 others(19): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 others(19): Show |
22 | 303 | 0.0726 | 8 | c.-42 others(27): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
CEP170_chr1_243119428_243260281 | 243249418 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01175.hp1 HG01358.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 others(1): Show |
4 | 303 | 0.0132 | 8 | c.-42 others(25): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
CEP170_chr1_243119428_243260281 | 243254187 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02280.hp1 others(14): Show |
a0001a0003a0006 | a0001c0001a0001c0007a0001c0016others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(5): Show | a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0106 others(14): Show |
17 | 303 | 0.0561 | 8 | c.-42 others(23): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
CEP192_chr18_12986362_13130036 | 13000091 | C | CTCTCTTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01361.hp1 HG01496.hp2 others(10): Show |
a0002a0029 | a0002c0001a0029c0020 | a0002c0001t0001a0029c0020t0001 | a0002c0001t0001g0294 a0002c0001t0001g0295 a0002c0001t0001g0310 others(10): Show |
13 | 392 | 0.0332 | 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 | 13066963 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00673.hp1 HG01099.hp2 others(20): Show |
a0002a0005a0011others(3): Show | a0002c0001a0005c0005a0011c0011others(3): Show | a0002c0001t0001a0005c0005t0001a0011c0011t0001others(3): Show | a0002c0001t0001g0320 a0002c0001t0001g0327 a0005c0005t0001g0015 others(19): Show |
23 | 392 | 0.0587 | 8 | c.448 others(25): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 21/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CEP19_chr3_196701277_196717250 | 196715735 | A | AGTGCAGT others(1): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 HG03195.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013 | a0001c0001t0007g0053 a0001c0001t0013g0037 |
3 | 432 | 0.0069 | 8 | c.-38 others(19): Show |
CEP19 | ENSG00000174007.9 | transcript | ENST00000409690.5 | protein_coding | 3486 | chr3 | TogoVar | |||||||
CEP20_chr16_15860719_15893603 | 15882742 | T | TCTATCTA others(1): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02809.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0236 |
3 | 433 | 0.0069 | 8 | c.226 others(25): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
CEP20_chr16_15860719_15893603 | 15882784 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00733.hp2 NA18985.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0125 a0001c0001t0002g0229 a0001c0001t0003g0199 |
3 | 433 | 0.0069 | 8 | c.226 others(25): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
CEP20_chr16_15860719_15893603 | 15890556 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01169.hp1 NA18979.hp1 NA19003.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0008 a0002c0002t0004g0012 a0002c0002t0004g0015 others(2): Show |
6 | 433 | 0.0139 | 8 | c.-19 others(19): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 1954 | chr16 | TogoVar | |||||||
CEP20_chr16_15860719_15893603 | 15891647 | C | CCCTTCCT others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(74): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0002c0002t0004others(4): Show | a0001c0001t0001g0088 a0001c0001t0001g0106 a0001c0001t0005g0018 others(43): Show |
77 | 433 | 0.1778 | 8 | c.-30 others(19): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 3045 | chr16 | TogoVar | |||||||
CEP250_chr20_35450598_35524280 | 35482048 | A | AATAGATA others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG02965.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0042others(3): Show | a0001c0001t0001g0159 a0001c0001t0001g0235 a0001c0001t0012g0215 others(5): Show |
8 | 260 | 0.0308 | 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 | 88086704 | T | TATCCATC others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
a0007a0013 | a0007c0011a0013c0021 | a0007c0011t0001a0013c0021t0001 | a0007c0011t0001g0017 a0007c0011t0001g0018 a0007c0011t0001g0019 others(1): Show |
4 | 234 | 0.0171 | 8 | c.419 others(25): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | TogoVar | |||||||
CEP295_chr11_93656682_93735358 | 93685700 | C | CTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(125): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0016a0003c0002others(10): Show | a0001c0001t0001a0001c0016t0001a0003c0002t0001others(10): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(109): Show |
128 | 354 | 0.3616 | 8 | c.111 others(27): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP295_chr11_93656682_93735358 | 93721665 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02004.hp1 NA18945.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0014 | a0001c0001t0001a0005c0014t0001 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0213 others(1): Show |
4 | 354 | 0.0113 | 8 | c.585 others(25): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 19/29 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 179991667 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00639.hp1 HG01069.hp1 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0005a0002c0002t0007others(3): Show | a0001c0001t0001g0159 a0002c0002t0005g0124 a0002c0002t0005g0125 others(11): Show |
15 | 248 | 0.0605 | 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 | 179991707 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01069.hp2 HG01099.hp1 others(22): Show |
a0001a0004a0005 | a0001c0001a0004c0004a0005c0005 | a0001c0001t0001a0004c0004t0003a0005c0005t0002 | a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 others(22): Show |
25 | 248 | 0.1008 | 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 | 180004902 | G | GCTTTCTT others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 NA21309.hp1 |
a0002a0011 | a0002c0002a0011c0012 | a0002c0002t0005a0011c0012t0009 | a0002c0002t0005g0125 a0002c0002t0005g0135 a0011c0012t0009g0066 |
3 | 248 | 0.0121 | 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 | 180004906 | G | GCTTGCTT others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02135.hp2 HG02622.hp2 others(1): Show |
a0003a0008 | a0003c0003a0008c0015 | a0003c0003t0002a0008c0015t0002 | a0003c0003t0002g0099 a0003c0003t0002g0113 a0008c0015t0002g0132 others(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 | 180004906 | G | GCTTTCTT others(1): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01516.hp1 HG01517.hp1 others(10): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0003a0004c0004others(1): Show | a0002c0002t0005a0002c0002t0007a0003c0003t0002others(2): Show | a0002c0002t0005g0123 a0002c0002t0007g0068 a0003c0003t0002g0086 others(10): Show |
13 | 248 | 0.0524 | 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 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00733.hp1 HG01069.hp2 others(41): Show |
a0001a0002a0005others(4): Show | a0001c0001a0002c0002a0002c0022others(5): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0014others(10): Show | a0001c0001t0001g0072 a0001c0001t0001g0145 a0001c0001t0001g0147 others(41): Show |
44 | 248 | 0.1774 | 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 | 180015210 | G | GTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01516.hp1 HG01517.hp1 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0007a0004c0004 | a0001c0001t0001a0002c0007t0002a0004c0004t0003 | a0001c0001t0001g0157 a0001c0001t0001g0159 a0002c0007t0002g0243 others(3): Show |
6 | 248 | 0.0242 | 8 | c.205 others(25): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP41_chr7_130388771_130446016 | 130392347 | G | GACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG01975.hp1 HG02015.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0271 a0001c0001t0002g0009 others(28): Show |
31 | 346 | 0.0896 | 8 | c.*65 others(19): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 1423 | chr7 | TogoVar | |||||||
CEP41_chr7_130388771_130446016 | 130392391 | C | CACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 HG03017.hp2 HG03490.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0255 a0001c0001t0002g0048 a0001c0001t0004g0018 others(7): Show |
10 | 346 | 0.0289 | 8 | c.*64 others(19): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 1379 | chr7 | TogoVar | |||||||
CEP43_chr6_166994397_167057718 | 167022259 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02922.hp1 HG02970.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0042a0001c0001t0061a0001c0001t0104others(2): Show | a0001c0001t0042g0061 a0001c0001t0061g0065 a0001c0001t0104g0057 others(2): Show |
5 | 376 | 0.0133 | 8 | c.580 others(23): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEP43_chr6_166994397_167057718 | 167042814 | T | TTGTGTGT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG02280.hp2 HG02622.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0063a0001c0001t0121a0003c0003t0009others(3): Show | a0001c0001t0063g0076 a0001c0001t0121g0052 a0003c0003t0009g0035 others(5): Show |
10 | 376 | 0.0266 | 8 | c.*28 others(19): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 13/13 | 2862 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP44_chr4_174278911_174325328 | 174291782 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG03654.hp2 NA18957.hp1 others(3): Show |
a0002 | a0002c0002a0002c0008 | a0002c0002t0004a0002c0002t0030a0002c0008t0004 | a0002c0002t0004g0022 a0002c0002t0004g0069 a0002c0002t0004g0070 others(2): Show |
6 | 388 | 0.0155 | 8 | c.-14 others(27): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CEP44_chr4_174278911_174325328 | 174297651 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02280.hp1 HG02922.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0008a0001c0003t0011others(1): Show | a0001c0001t0001g0113 a0001c0001t0001g0157 a0001c0001t0008g0112 others(2): 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 | ||||||
CEP55_chr10_93491612_93534092 | 93512226 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(139): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(10): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0018 others(92): Show |
142 | 386 | 0.3679 | 8 | c.529 others(25): Show |
CEP55 | ENSG00000138180.16 | transcript | ENST00000371485.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |