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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP20_chr16_15860719_15893603 | 15861477 | AAATAAT | A | downstream_gene_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG00741.hp2 others(49): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0051 a0001c0001t0002g0037 others(32): Show |
52 | 433 | 0.1201 | -6 | c.*59 others(17): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 4241 | chr16 | TogoVar | |||||||
CEP20_chr16_15860719_15893603 | 15874629 | CTTTATT | C | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG00735.hp1 others(66): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0004a0002c0002t0008a0002c0002t0012others(2): Show | a0002c0002t0004g0008 a0002c0002t0004g0009 a0002c0002t0004g0012 others(35): Show |
69 | 433 | 0.1594 | -6 | c.312 others(23): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 3/4 | chr16 | TogoVar | |||||||
CEP20_chr16_15860719_15893603 | 15882765 | ATCTATC | A | intron_variant | MODIFIER | HG00621.hp2 HG02055.hp2 HG02965.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0008 | a0002c0002t0004g0072 a0002c0002t0008g0029 a0002c0002t0008g0080 |
4 | 433 | 0.0092 | -6 | c.226 others(23): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
CEP20_chr16_15860719_15893603 | 15882773 | ATCTATC | A | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG01167.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0160 others(8): Show |
23 | 433 | 0.0531 | -6 | c.226 others(23): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
CEP250_chr20_35450598_35524280 | 35465436 | AAAAATG | A | intron_variant | MODIFIER | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(10): Show |
a0001a0005a0013 | a0001c0005a0001c0011a0005c0007others(1): Show | a0001c0005t0011a0001c0005t0065a0001c0011t0063others(4): Show | a0001c0005t0011g0141 a0001c0005t0011g0142 a0001c0005t0011g0143 others(10): Show |
13 | 260 | 0.0500 | -6 | c.244 others(21): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 5/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CEP250_chr20_35450598_35524280 | 35485645 | CTTTTTT | C | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp1 HG02809.hp1 others(3): Show |
a0001a0005a0013 | a0001c0011a0005c0007a0013c0016 | a0001c0011t0063a0005c0007t0021a0005c0007t0022others(2): Show | a0001c0011t0063g0137 a0005c0007t0021g0009 a0005c0007t0022g0134 others(3): Show |
6 | 260 | 0.0231 | -6 | c.258 others(25): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CEP290_chr12_88044016_88147088 | 88097604 | CACACAT | C | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0122 a0002c0002t0001g0123 |
2 | 234 | 0.0086 | -6 | c.299 others(23): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | TogoVar | |||||||
CEP290_chr12_88044016_88147088 | 88097610 | TACACAC | T | intron_variant | MODIFIER | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0023 a0008c0010t0001g0024 a0008c0010t0001g0025 |
3 | 234 | 0.0128 | -6 | c.299 others(23): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | TogoVar | |||||||
CEP295_chr11_93656682_93735358 | 93672832 | TATAATC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(290): Show |
a0001a0003a0004others(21): Show | a0001c0001a0001c0012a0001c0013others(32): Show | a0001c0001t0001a0001c0012t0001a0001c0013t0001others(33): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(262): Show |
293 | 354 | 0.8277 | -6 | c.529 others(23): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP295_chr11_93656682_93735358 | 93711481 | GTTTTGT | G | intron_variant | MODIFIER | HG01099.hp1 HG02056.hp2 HG03579.hp1 |
a0001a0009 | a0001c0001a0009c0017 | a0001c0001t0001a0009c0017t0002 | a0001c0001t0001g0232 a0009c0017t0002g0310 a0009c0017t0002g0313 |
3 | 354 | 0.0085 | -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 | TTTGTTG | T | intron_variant | MODIFIER | HG02015.hp2 HG02165.hp1 HG02698.hp1 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0003c0002others(3): Show | a0001c0001t0001a0002c0003t0001a0003c0002t0001others(3): Show | a0001c0001t0001g0057 a0002c0003t0001g0286 a0003c0002t0001g0095 others(12): 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 | 93721665 | GGTGTGT | G | intron_variant | MODIFIER | HG00438.hp1 HG02080.hp1 HG03492.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0001 | a0001c0001t0001g0143 a0001c0001t0001g0160 a0001c0001t0001g0262 others(5): Show |
8 | 354 | 0.0226 | -6 | c.585 others(23): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 19/29 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 179991667 | ATGTGTG | A | intron_variant | MODIFIER | HG02698.hp2 HG03041.hp2 HG03486.hp2 |
a0002a0011 | a0002c0002a0011c0012 | a0002c0002t0002a0011c0012t0009 | a0002c0002t0002g0076 a0002c0002t0002g0128 a0011c0012t0009g0065 |
3 | 248 | 0.0121 | -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 | CGTGTGT | C | intron_variant | MODIFIER | HG02615.hp1 HG02723.hp2 HG02922.hp2 others(2): Show |
a0007a0018 | a0007c0006a0018c0032 | a0007c0006t0002a0018c0032t0002 | a0007c0006t0002g0041 a0007c0006t0002g0228 a0007c0006t0002g0229 others(2): Show |
5 | 248 | 0.0202 | -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 | 180043772 | TTGTGTG | T | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
a0001a0008a0014others(7): Show | a0001c0001a0001c0011a0001c0033others(9): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0014others(13): Show | a0001c0001t0001g0037 a0001c0001t0001g0070 a0001c0001t0001g0071 others(91): Show |
94 | 248 | 0.3790 | -6 | c.450 others(23): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 20/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180086540 | CATATAT | C | intron_variant | MODIFIER | HG02004.hp1 HG02717.hp1 HG02723.hp1 others(6): Show |
a0001a0002a0008others(2): Show | a0001c0001a0002c0020a0008c0029others(2): Show | a0001c0001t0001a0002c0020t0019a0008c0029t0010others(2): Show | a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0170 others(6): Show |
9 | 248 | 0.0363 | -6 | c.628 others(25): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP41_chr7_130388771_130446016 | 130389406 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(147): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0183 a0001c0001t0001g0234 a0001c0001t0001g0255 others(133): Show |
150 | 346 | 0.4335 | -6 | c.*94 others(17): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 4364 | chr7 | TogoVar | |||||||
CEP41_chr7_130388771_130446016 | 130392347 | GACACAC | G | downstream_gene_variant | MODIFIER | HG02922.hp1 HG03041.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0050a0001c0001t0054a0001c0001t0055others(1): Show | a0001c0001t0050g0022 a0001c0001t0054g0023 a0001c0001t0055g0024 others(1): Show |
4 | 346 | 0.0116 | -6 | c.*65 others(17): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 1423 | chr7 | TogoVar | |||||||
CEP41_chr7_130388771_130446016 | 130392412 | CTTCTCT | C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG02056.hp1 HG02523.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0002g0041 a0001c0001t0005g0016 a0001c0001t0008g0279 others(1): Show |
4 | 346 | 0.0116 | -6 | c.*64 others(17): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 1358 | chr7 | TogoVar | |||||||
CEP41_chr7_130388771_130446016 | 130407253 | AACACAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00735.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0224 a0001c0001t0001g0269 a0001c0001t0002g0049 others(11): Show |
14 | 346 | 0.0405 | -6 | c.278 others(23): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 5/10 | chr7 | TogoVar | |||||||
CEP43_chr6_166994397_167057718 | 167020908 | CAAAAAA | C | intron_variant | MODIFIER | HG01109.hp1 HG01993.hp2 HG02280.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0084a0001c0001t0155a0003c0003t0009others(3): Show | a0001c0001t0084g0280 a0001c0001t0155g0253 a0003c0003t0009g0035 others(5): Show |
10 | 376 | 0.0266 | -6 | 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 | 167021072 | GAAAAAA | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(96): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(43): Show | a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0009 others(91): Show |
99 | 376 | 0.2633 | -6 | 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 | 167033099 | CTTTTTT | C | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00621.hp2 others(16): Show |
a0002a0006 | a0002c0002a0006c0007 | a0002c0002t0015a0002c0002t0035a0002c0002t0036others(12): Show | a0002c0002t0015g0037 a0002c0002t0015g0038 a0002c0002t0015g0039 others(16): Show |
19 | 376 | 0.0505 | -6 | c.102 others(23): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEP43_chr6_166994397_167057718 | 167050781 | GAAAAAA | G | 3_prime_UTR_variant | MODIFIER | HG01109.hp2 HG02109.hp2 HG02572.hp1 others(4): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0075a0001c0001t0085a0001c0001t0154others(2): Show | a0001c0001t0075g0184 a0001c0001t0085g0002 a0001c0001t0154g0007 others(3): Show |
7 | 376 | 0.0186 | -6 | c.*10 others(19): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 13/13 | 10821 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP44_chr4_174278911_174325328 | 174297651 | AGTGTGT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(38): Show |
a0001a0002a0007 | a0001c0003a0002c0002a0007c0006 | a0001c0003t0002a0002c0002t0003a0002c0002t0006others(5): Show | a0001c0003t0002g0245 a0001c0003t0002g0246 a0001c0003t0002g0247 others(32): Show |
41 | 388 | 0.1057 | -6 | c.-14 others(23): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CEP55_chr10_93491612_93534092 | 93498989 | ATTAGAG | A | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02145.hp2 others(16): Show |
a0003a0007a0011others(1): Show | a0003c0003a0007c0007a0011c0011others(1): Show | a0003c0003t0002a0003c0003t0009a0007c0007t0003others(5): Show | a0003c0003t0002g0021 a0003c0003t0009g0063 a0007c0007t0003g0009 others(11): Show |
19 | 386 | 0.0492 | -6 | c.-12 others(23): Show |
CEP55 | ENSG00000138180.16 | transcript | ENST00000371485.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CEP55_chr10_93491612_93534092 | 93509468 | CATTATT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(348): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0022a0002c0002others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(32): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(236): Show |
351 | 386 | 0.9093 | -6 | c.528 others(23): Show |
CEP55 | ENSG00000138180.16 | transcript | ENST00000371485.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CEP55_chr10_93491612_93534092 | 93527083 | TAAAAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(180): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0022a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0010a0001c0022t0001others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(128): Show |
183 | 386 | 0.4741 | -6 | c.119 others(23): Show |
CEP55 | ENSG00000138180.16 | transcript | ENST00000371485.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CEP57L1_chr6_109090507_109179418 | 109120912 | GCACACA | G | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp2 HG01261.hp2 others(22): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0036 a0001c0001t0001g0049 a0001c0001t0001g0050 others(22): Show |
25 | 228 | 0.1097 | -6 | 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 | 109136697 | GTATTTT | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(23): Show |
a0002a0006 | a0002c0002a0006c0008 | a0002c0002t0003a0002c0002t0025a0002c0002t0026others(8): Show | a0002c0002t0003g0001 a0002c0002t0003g0013 a0002c0002t0003g0014 others(20): Show |
26 | 228 | 0.1140 | -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 | 109142946 | GCTCTCT | G | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00423.hp2 others(26): Show |
a0001a0007 | a0001c0001a0001c0003a0007c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0039 a0001c0001t0001g0064 a0001c0001t0001g0065 others(26): Show |
29 | 228 | 0.1272 | -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 | 109152636 | CGTGTGT | C | intron_variant | MODIFIER | HG00558.hp2 HG01255.hp1 HG01257.hp1 others(13): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(8): Show | a0001c0001t0001g0038 a0001c0001t0001g0068 a0001c0001t0001g0121 others(13): Show |
16 | 228 | 0.0702 | -6 | c.463 others(23): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEP57L1_chr6_109090507_109179418 | 109167063 | TAAATAA | T | 3_prime_UTR_variant | MODIFIER | HG02109.hp1 HG02486.hp2 HG02559.hp1 others(4): Show |
a0002a0006 | a0002c0002a0006c0008 | a0002c0002t0030a0002c0002t0078a0002c0002t0079others(4): Show | a0002c0002t0030g0211 a0002c0002t0078g0205 a0002c0002t0079g0209 others(4): Show |
7 | 228 | 0.0307 | -6 | c.*41 others(17): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 11/11 | 4100 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109177637 | AATATAT | A | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG00621.hp1 others(13): Show |
a0001a0007 | a0001c0001a0001c0003a0007c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0051others(5): Show | a0001c0001t0001g0037 a0001c0001t0001g0060 a0001c0001t0002g0061 others(13): Show |
16 | 228 | 0.0702 | -6 | c.*14 others(19): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 3220 | chr6 | TogoVar | |||||||
CEP63_chr3_134481057_134570031 | 134551724 | CATATAT | C | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp2 HG01069.hp2 others(65): Show |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0009 others(62): Show |
68 | 322 | 0.2112 | -6 | c.138 others(23): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CEP68_chr2_65051416_65092004 | 65066763 | TATATAC | T | intron_variant | MODIFIER | HG01257.hp1 HG02055.hp1 HG02056.hp2 others(2): Show |
a0001a0003a0007others(1): Show | a0001c0006a0003c0018a0007c0008others(1): Show | a0001c0006t0006a0003c0018t0006a0007c0008t0001others(1): Show | a0001c0006t0006g0121 a0001c0006t0006g0122 a0003c0018t0006g0115 others(2): Show |
5 | 360 | 0.0139 | -6 | c.-46 others(23): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CEP68_chr2_65051416_65092004 | 65078545 | GTTTTGC | G | intron_variant | MODIFIER | NA18955.hp1 NA18979.hp2 NA19000.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 a0001c0001t0001g0168 a0001c0001t0001g0203 others(2): Show |
5 | 360 | 0.0139 | -6 | c.210 others(23): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CEP70_chr3_138489344_138599260 | 138560567 | AGGTCTG | A | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp1 HG02615.hp2 others(2): Show |
a0001a0004 | a0001c0004a0004c0006 | a0001c0004t0006a0004c0006t0005 | a0001c0004t0006g0029 a0001c0004t0006g0032 a0004c0006t0005g0028 others(2): Show |
5 | 318 | 0.0157 | -6 | c.465 others(23): Show |
CEP70 | ENSG00000114107.9 | transcript | ENST00000264982.8 | protein_coding | 6/17 | chr3 | TogoVar | |||||||
CEP72_chr5_607340_658553 | 650406 | CTGTGGG | C | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01243.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0078 others(5): Show |
8 | 91 | 0.0879 | -6 | c.177 others(25): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 650584 | CTGTGGG | C | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01243.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0074 a0002c0002t0001g0078 a0002c0002t0001g0081 others(3): Show |
6 | 91 | 0.0659 | -6 | c.177 others(25): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CEP76_chr18_12667625_12707723 | 12671581 | TTAACAC | T | downstream_gene_variant | MODIFIER | HG00639.hp1 HG02055.hp2 HG02965.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0017 a0001c0001t0001g0048 a0001c0001t0001g0050 others(3): Show |
7 | 380 | 0.0184 | -6 | c.*17 others(17): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 1043 | chr18 | TogoVar | |||||||
CEP76_chr18_12667625_12707723 | 12671638 | CTTTCTT | C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00735.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(8): Show |
14 | 380 | 0.0368 | -6 | c.*17 others(17): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 986 | chr18 | TogoVar | |||||||
CEP76_chr18_12667625_12707723 | 12695852 | CCACACA | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01243.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0009 a0001c0001t0004g0180 a0001c0001t0004g0181 others(10): Show |
16 | 380 | 0.0421 | -6 | c.707 others(21): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 5/11 | chr18 | TogoVar | |||||||
CEP76_chr18_12667625_12707723 | 12696502 | AAATAAT | A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01243.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0176 a0001c0001t0004g0009 a0001c0001t0004g0033 others(14): Show |
21 | 380 | 0.0553 | -6 | c.706 others(21): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 5/11 | chr18 | TogoVar | |||||||
CEP76_chr18_12667625_12707723 | 12696930 | CTTATAT | C | intron_variant | MODIFIER | HG02055.hp2 HG02965.hp2 HG03139.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0050 a0001c0001t0001g0051 others(1): Show |
5 | 380 | 0.0132 | -6 | c.706 others(21): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 5/11 | chr18 | TogoVar | |||||||
CEP76_chr18_12667625_12707723 | 12698158 | TTATTTA | T | intron_variant | MODIFIER | HG00639.hp1 HG02055.hp2 HG02615.hp1 others(11): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0048 a0001c0001t0001g0050 others(10): Show |
14 | 380 | 0.0368 | -6 | c.521 others(21): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 4/11 | chr18 | TogoVar | |||||||
CEP76_chr18_12667625_12707723 | 12705545 | AAGAGAG | A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00597.hp2 HG00639.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0054 others(10): Show |
14 | 380 | 0.0368 | -6 | c.-30 others(17): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 2823 | chr18 | TogoVar | |||||||
CEP76_chr18_12667625_12707723 | 12705574 | AGAGTGT | A | upstream_gene_variant | MODIFIER | HG02809.hp1 HG02896.hp1 HG02897.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009 a0001c0001t0004g0180 a0001c0001t0004g0181 |
6 | 380 | 0.0158 | -6 | c.-30 others(17): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 2852 | chr18 | TogoVar | |||||||
CEP78_chr9_78231075_78284690 | 78280315 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00673.hp1 HG00735.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012a0001c0001t0015others(5): Show | a0001c0001t0003g0018 a0001c0001t0003g0033 a0001c0001t0003g0092 others(29): Show |
36 | 340 | 0.1059 | -6 | c.*94 others(17): Show |
CEP78 | ENSG00000148019.14 | transcript | ENST00000643273.2 | protein_coding | 626 | chr9 | TogoVar | |||||||
CEP83_chr12_94302698_94464867 | 94351627 | GGGCACT | G | intron_variant | MODIFIER | HG02273.hp2 NA18952.hp2 NA18997.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0328 a0001c0001t0004g0329 a0001c0001t0006g0004 others(3): Show |
6 | 364 | 0.0165 | -6 | c.134 others(27): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 11/16 | chr12 | TogoVar |