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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP128_chr14_80491479_80946738 | 80909371 | T | TCACACA | intron_variant | MODIFIER | HG00733.hp1 HG00741.hp1 HG01081.hp1 others(32): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0002c0006others(5): Show | a0001c0001t0001a0001c0001t0005a0002c0002t0003others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0005g0004others(32): Show | 35 | 164 | 0.2134 | 6 | c.235 others(23): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 4/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80909403 | A | ACACACG | intron_variant | MODIFIER | HG01175.hp1 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106a0001c0001t0002g0112 | 2 | 164 | 0.0122 | 6 | c.235 others(23): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 4/24 | chr14 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81210567 | A | AAAAAAC | intron_variant | MODIFIER | HG02630.hp1 HG02698.hp1 HG03017.hp1 |
a0001a0031 | a0001c0001a0031c0043 | a0001c0001t0001a0031c0043t0001 | a0001c0001t0001g0156a0001c0001t0001g0157a0031c0043t0001g0248 | 3 | 384 | 0.0078 | 6 | c.178 others(23): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 2/25 | chr17 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81222296 | G | GCTGACC | intron_variant | MODIFIER | HG02717.hp2 HG02886.hp2 HG02896.hp1 others(3): Show |
a0002a0012 | a0002c0002a0012c0016 | a0002c0002t0002a0012c0016t0001 | a0002c0002t0002g0014a0002c0002t0002g0015a0002c0002t0002g0121others(1): Show | 6 | 384 | 0.0156 | 6 | c.-18 others(21): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 1/25 | chr17 | TogoVar | ||||||
CEP135_chr4_55943945_56038361 | 55947043 | C | CAAAACA | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00735.hp1 others(29): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0013a0002c0002others(3): Show | a0001c0001t0005a0001c0001t0012a0001c0001t0016others(7): Show | a0001c0001t0005g0017a0001c0001t0005g0024a0001c0001t0005g0126others(28): Show | 32 | 346 | 0.0925 | 6 | c.-20 others(17): Show |
CEP135 | ENSG00000174799.12 | transcript | ENST00000257287.5 | protein_coding | 1901 | chr4 | TogoVar | ||||||
CEP135_chr4_55943945_56038361 | 55961764 | T | TAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG01070.hp2 HG01361.hp1 others(27): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0009 | a0001c0001t0002a0001c0001t0010a0001c0001t0014others(2): Show | a0001c0001t0002g0005a0001c0001t0002g0030a0001c0001t0002g0037others(24): Show | 30 | 346 | 0.0867 | 6 | c.699 others(23): Show |
CEP135 | ENSG00000174799.12 | transcript | ENST00000257287.5 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CEP152_chr15_48732938_48816069 | 48777466 | T | TTGTGTG | intron_variant | MODIFIER | HG00408.hp2 HG01109.hp1 HG02015.hp1 others(33): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0011others(30): Show | 36 | 342 | 0.1053 | 6 | c.157 others(25): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 12/26 | chr15 | TogoVar | ||||||
CEP152_chr15_48732938_48816069 | 48783775 | G | GTATATA | intron_variant | MODIFIER | HG02717.hp1 HG02809.hp2 HG02818.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0099a0001c0001t0001g0100others(4): Show | 8 | 342 | 0.0234 | 6 | c.132 others(23): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 10/26 | chr15 | TogoVar | ||||||
CEP152_chr15_48732938_48816069 | 48785406 | T | TCTCAAG | intron_variant | MODIFIER | HG00099.hp2 HG01070.hp2 HG01071.hp1 others(2): Show |
a0001 | a0001c0001a0001c0016 | a0001c0001t0004a0001c0016t0004 | a0001c0001t0004g0049a0001c0001t0004g0086a0001c0001t0004g0129others(2): Show | 5 | 342 | 0.0146 | 6 | c.117 others(25): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 9/26 | chr15 | TogoVar | ||||||
CEP162_chr6_84119250_84232643 | 84127324 | C | CTAATAA | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG01257.hp2 others(31): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0005a0001c0008others(7): Show | a0001c0001t0003a0001c0005t0004a0001c0005t0005others(8): Show | a0001c0001t0003g0065a0001c0001t0003g0112a0001c0005t0004g0005others(31): Show | 34 | 214 | 0.1589 | 6 | c.387 others(23): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 25/26 | chr6 | TogoVar | ||||||
CEP162_chr6_84119250_84232643 | 84156743 | G | GACACAC | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02257.hp2 others(15): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0002a0001c0005t0004a0001c0007t0002others(1): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0028others(13): Show | 18 | 214 | 0.0841 | 6 | c.278 others(25): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 21/26 | chr6 | TogoVar | ||||||
CEP164_chr11_117322854_117418266 | 117331981 | A | AATATAT | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(45): Show |
a0002a0004a0018others(1): Show | a0002c0001a0004c0004a0018c0039others(1): Show | a0002c0001t0003a0002c0001t0004a0002c0001t0009others(3): Show | a0002c0001t0003g0002a0002c0001t0003g0011a0002c0001t0003g0096others(41): Show | 48 | 390 | 0.1231 | 6 | c.-97 others(23): Show |
CEP164 | ENSG00000110274.16 | transcript | ENST00000278935.8 | protein_coding | 1/32 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP170_chr1_243119428_243260281 | 243159763 | T | TTGTGTG | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG01192.hp1 others(27): Show |
a0001a0002a0007others(2): Show | a0001c0001a0002c0002a0002c0004others(6): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0006others(7): Show | a0001c0001t0001g0063a0001c0001t0001g0116a0001c0001t0001g0159others(26): Show | 30 | 303 | 0.0990 | 6 | c.367 others(25): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 13/19 | chr1 | TogoVar | ||||||
CEP170_chr1_243119428_243260281 | 243178308 | C | CAAAAAA | intron_variant | MODIFIER | HG00558.hp1 HG01106.hp1 HG01975.hp2 others(15): Show |
a0001a0006 | a0001c0001a0001c0010a0006c0008 | a0001c0001t0002a0001c0001t0011a0001c0010t0002others(1): Show | a0001c0001t0002g0009a0001c0001t0002g0082a0001c0001t0002g0092others(15): Show | 18 | 303 | 0.0594 | 6 | c.156 others(25): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 10/19 | chr1 | TogoVar | ||||||
CEP170_chr1_243119428_243260281 | 243226203 | A | ATATGCC | intron_variant | MODIFIER | HG01261.hp2 HG02145.hp1 HG02280.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137a0001c0001t0001g0138a0001c0001t0001g0139others(11): Show | 14 | 303 | 0.0462 | 6 | c.-41 others(21): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
CEP170_chr1_243119428_243260281 | 243231153 | G | GCATCAT | intron_variant | MODIFIER | HG01192.hp1 HG01993.hp2 HG02109.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0139a0001c0001t0002g0105a0002c0002t0001g0163others(1): Show | 4 | 303 | 0.0132 | 6 | c.-41 others(23): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
CEP170_chr1_243119428_243260281 | 243231190 | C | CATCATT | intron_variant | MODIFIER | HG00140.hp1 HG02056.hp2 HG02293.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0112a0002c0002t0001g0167a0002c0002t0001g0175others(3): Show | 6 | 303 | 0.0198 | 6 | c.-41 others(23): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
CEP192_chr18_12986362_13130036 | 13000085 | T | TTCTCTC | intron_variant | MODIFIER | HG01952.hp2 HG02257.hp2 HG02258.hp1 others(11): Show |
a0006a0007 | a0006c0006a0007c0007 | a0006c0006t0002a0007c0007t0002 | a0006c0006t0002g0025a0006c0006t0002g0034a0006c0006t0002g0035others(10): Show | 14 | 392 | 0.0357 | 6 | c.164 others(21): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 2/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CEP192_chr18_12986362_13130036 | 13066963 | C | CTGTGTG | intron_variant | MODIFIER | HG01099.hp1 HG01261.hp1 HG01993.hp1 others(13): Show |
a0002a0005a0006others(2): Show | a0002c0001a0005c0005a0006c0006others(2): Show | a0002c0001t0001a0005c0005t0001a0006c0006t0002others(2): Show | a0002c0001t0001g0022a0002c0001t0001g0321a0002c0001t0001g0323others(12): Show | 16 | 392 | 0.0408 | 6 | c.448 others(23): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 21/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CEP20_chr16_15860719_15893603 | 15861477 | A | AAATAAT | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG01099.hp2 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0013a0001c0001t0001g0014others(36): Show | 51 | 433 | 0.1178 | 6 | c.*59 others(17): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 4241 | chr16 | TogoVar | ||||||
CEP20_chr16_15860719_15893603 | 15882774 | T | TACACAC | intron_variant | MODIFIER | HG00735.hp1 HG01167.hp2 HG01169.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0012a0002c0002t0004g0031a0002c0002t0004g0094 | 9 | 433 | 0.0208 | 6 | c.226 others(23): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 2/4 | chr16 | TogoVar | ||||||
CEP20_chr16_15860719_15893603 | 15882784 | T | TACACAC | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00597.hp1 others(72): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0176a0001c0001t0002g0010a0001c0001t0002g0016others(38): Show | 75 | 433 | 0.1732 | 6 | c.226 others(23): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 2/4 | chr16 | TogoVar | ||||||
CEP20_chr16_15860719_15893603 | 15890063 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG00423.hp1 HG03579.hp1 NA18967.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0004a0002c0002t0013 | a0001c0001t0005g0027a0002c0002t0004g0008a0002c0002t0004g0015others(6): Show | 10 | 433 | 0.0231 | 6 | c.-14 others(17): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 1461 | chr16 | TogoVar | ||||||
CEP290_chr12_88044016_88147088 | 88146611 | G | GTATATA | upstream_gene_variant | MODIFIER | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(8): Show |
a0005 | a0005c0006a0005c0015 | a0005c0006t0001a0005c0015t0001 | a0005c0006t0001g0062a0005c0006t0001g0063a0005c0006t0001g0065others(8): Show | 11 | 234 | 0.0470 | 6 | c.-47 others(17): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 4524 | chr12 | TogoVar | ||||||
CEP295_chr11_93656682_93735358 | 93681403 | A | ATTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp1 HG01109.hp1 others(47): Show |
a0001a0005a0010others(4): Show | a0001c0001a0005c0006a0005c0011others(5): Show | a0001c0001t0001a0005c0006t0001a0005c0011t0001others(5): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012others(43): Show | 50 | 354 | 0.1412 | 6 | c.765 others(23): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP295_chr11_93656682_93735358 | 93711481 | G | GTTTTGT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(115): Show |
a0001a0005a0015others(6): Show | a0001c0001a0001c0016a0005c0006others(7): Show | a0001c0001t0001a0001c0016t0001a0005c0006t0001others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(100): Show | 118 | 354 | 0.3333 | 6 | c.574 others(25): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 18/29 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP295_chr11_93656682_93735358 | 93712856 | T | TTTGTTG | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG01346.hp2 others(15): Show |
a0001a0005a0023 | a0001c0001a0005c0006a0023c0031 | a0001c0001t0001a0005c0006t0001a0023c0031t0001 | a0001c0001t0001g0016a0001c0001t0001g0190a0001c0001t0001g0210others(14): Show | 18 | 354 | 0.0509 | 6 | c.574 others(25): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 18/29 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP295_chr11_93656682_93735358 | 93720489 | A | AAAAAAG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(103): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0016a0002c0002others(7): Show | a0001c0001t0001a0001c0016t0001a0002c0002t0001others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0007others(90): Show | 106 | 354 | 0.2994 | 6 | c.575 others(23): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 18/29 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 179991667 | A | ATGTGTG | intron_variant | MODIFIER | HG00544.hp1 HG01261.hp1 HG02004.hp2 others(41): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0007others(7): Show | a0001c0001t0001g0038a0001c0001t0001g0040a0001c0001t0001g0234others(41): Show | 44 | 248 | 0.1774 | 6 | c.236 others(21): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 179991707 | G | GTGTGTA | intron_variant | MODIFIER | HG01109.hp1 HG02004.hp1 HG02040.hp2 others(6): Show |
a0001a0004a0020others(1): Show | a0001c0001a0004c0004a0020c0019others(1): Show | a0001c0001t0001a0004c0004t0003a0020c0019t0001others(1): Show | a0001c0001t0001g0148a0001c0001t0001g0167a0001c0001t0001g0170others(6): Show | 9 | 248 | 0.0363 | 6 | c.236 others(21): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 180007839 | C | CGTGTGT | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01099.hp1 others(30): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0018a0002c0002t0002others(3): Show | a0001c0001t0001g0037a0001c0001t0001g0070a0001c0001t0001g0071others(30): Show | 33 | 248 | 0.1331 | 6 | c.124 others(25): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 180042132 | T | TCACACA | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp2 HG01175.hp2 others(8): Show |
a0001a0015 | a0001c0001a0001c0011a0001c0033others(1): Show | a0001c0001t0001a0001c0011t0001a0001c0033t0001others(1): Show | a0001c0001t0001g0038a0001c0001t0001g0072a0001c0001t0001g0073others(8): Show | 11 | 248 | 0.0444 | 6 | c.436 others(23): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 180042132 | T | TCTCACA | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01123.hp2 others(6): Show |
a0001a0007a0009 | a0001c0001a0007c0008a0009c0010 | a0001c0001t0001a0007c0008t0006a0007c0008t0011others(1): Show | a0001c0001t0001g0071a0007c0008t0006g0013a0007c0008t0006g0014others(6): Show | 9 | 248 | 0.0363 | 6 | c.436 others(23): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP41_chr7_130388771_130446016 | 130392347 | G | GACACAC | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00609.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0183a0001c0001t0001g0263others(43): Show | 49 | 346 | 0.1416 | 6 | c.*65 others(17): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 1423 | chr7 | TogoVar | ||||||
CEP41_chr7_130388771_130446016 | 130392388 | A | ACACACG | downstream_gene_variant | MODIFIER | HG01358.hp2 NA18950.hp2 NA18987.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014a0001c0001t0017 | a0001c0001t0004g0204a0001c0001t0014g0228a0001c0001t0014g0233others(2): Show | 5 | 346 | 0.0145 | 6 | c.*65 others(17): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 1382 | chr7 | TogoVar | ||||||
CEP41_chr7_130388771_130446016 | 130392391 | C | CACACAA | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01106.hp1 HG01123.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0234a0001c0001t0002g0047a0001c0001t0002g0049others(20): Show | 27 | 346 | 0.0780 | 6 | c.*64 others(17): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 1379 | chr7 | TogoVar | ||||||
CEP41_chr7_130388771_130446016 | 130407253 | A | AACACAC | intron_variant | MODIFIER | HG01978.hp1 HG01978.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0022a0001c0001t0063 | a0001c0001t0016g0099a0001c0001t0016g0116a0001c0001t0022g0172others(1): Show | 4 | 346 | 0.0116 | 6 | c.278 others(23): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 5/10 | chr7 | TogoVar | ||||||
CEP43_chr6_166994397_167057718 | 167022259 | A | AACACAC | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp2 HG02027.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0020a0001c0001t0042others(4): Show | a0001c0001t0014g0124a0001c0001t0020g0062a0001c0001t0042g0060others(4): Show | 8 | 376 | 0.0213 | 6 | c.580 others(21): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP43_chr6_166994397_167057718 | 167042814 | T | TTGTGTG | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02451.hp2 HG02622.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0060a0001c0001t0064others(3): Show | a0001c0001t0028g0073a0001c0001t0028g0074a0001c0001t0060g0075others(4): Show | 7 | 376 | 0.0186 | 6 | c.*28 others(17): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 13/13 | 2862 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
CEP44_chr4_174278911_174325328 | 174297651 | A | AGTGTGT | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00597.hp2 others(23): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0008a0001c0001t0031others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0026a0001c0001t0001g0104others(17): Show | 26 | 388 | 0.0670 | 6 | c.-14 others(23): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CEP44_chr4_174278911_174325328 | 174320684 | C | CTGTGTG | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01099.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0005a0002c0002t0015 | a0002c0002t0003g0200a0002c0002t0005g0062a0002c0002t0005g0175others(2): Show | 6 | 388 | 0.0155 | 6 | c.*33 others(17): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 357 | chr4 | TogoVar | ||||||
CEP55_chr10_93491612_93534092 | 93512226 | C | CAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00438.hp1 others(123): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0022a0002c0002others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0020others(82): Show | 126 | 386 | 0.3264 | 6 | c.529 others(23): Show |
CEP55 | ENSG00000138180.16 | transcript | ENST00000371485.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109136561 | T | TAATTTA | intron_variant | MODIFIER | HG02572.hp1 HG03225.hp1 HG03540.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0027a0001c0001t0028 | a0001c0001t0012g0218a0001c0001t0012g0219a0001c0001t0012g0220others(2): Show | 5 | 228 | 0.0219 | 6 | c.-3- others(21): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109171242 | A | ATTTTTT | 3_prime_UTR_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG02109.hp1 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0005others(1): Show | a0001c0001t0012a0001c0001t0027a0002c0002t0068others(11): Show | a0001c0001t0012g0218a0001c0001t0012g0219a0001c0001t0012g0220others(13): Show | 16 | 228 | 0.0702 | 6 | c.*82 others(17): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 11/11 | 8286 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
CEP57L1_chr6_109090507_109179418 | 109177637 | A | AATATAT | downstream_gene_variant | MODIFIER | HG01361.hp1 HG02015.hp2 HG02559.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0038a0001c0001t0001g0082a0001c0001t0001g0091others(9): Show | 12 | 228 | 0.0526 | 6 | c.*14 others(19): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 3220 | chr6 | TogoVar | ||||||
CEP57L1_chr6_109090507_109179418 | 109177675 | T | TATATAA | downstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG02083.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0068a0002c0002t0075others(2): Show | a0002c0002t0003g0018a0002c0002t0003g0023a0002c0002t0068g0009others(3): Show | 6 | 228 | 0.0263 | 6 | c.*14 others(19): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 3258 | chr6 | TogoVar | ||||||
CEP63_chr3_134481057_134570031 | 134528569 | C | CGTGTGT | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00733.hp1 others(67): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0015a0001c0001t0021others(11): Show | a0001c0001t0001g0129a0001c0001t0001g0130a0001c0001t0001g0131others(65): Show | 70 | 322 | 0.2174 | 6 | c.223 others(23): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEP63_chr3_134481057_134570031 | 134538531 | G | GTATATA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(42): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0132a0001c0001t0001g0133a0001c0001t0001g0149others(39): Show | 45 | 322 | 0.1398 | 6 | c.555 others(23): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEP68_chr2_65051416_65092004 | 65076983 | A | ATTTGAC | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(191): Show |
a0001a0003a0005others(6): Show | a0001c0001a0001c0009a0001c0012others(11): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(29): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(141): Show | 194 | 360 | 0.5389 | 6 | c.200 others(23): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CEP68_chr2_65051416_65092004 | 65089702 | A | ATTTTTT | downstream_gene_variant | MODIFIER | HG01361.hp1 HG02056.hp2 HG02280.hp1 others(5): Show |
a0001a0003a0018 | a0001c0006a0003c0018a0018c0019 | a0001c0006t0006a0001c0006t0025a0003c0018t0006others(1): Show | a0001c0006t0006g0113a0001c0006t0006g0114a0001c0006t0006g0119others(5): Show | 8 | 360 | 0.0222 | 6 | c.*60 others(17): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 2699 | chr2 | TogoVar |