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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP83_chr12_94302698_94464867 | 94331289 | G | GAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 364 | 0.0028 | 10 | c.170 others(27): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 14/16 | chr12 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94331303 | A | AAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01192.hp1 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0349a0001c0001t0003g0350a0001c0001t0003g0351 | 3 | 364 | 0.0082 | 10 | c.170 others(27): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 14/16 | chr12 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94343470 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01361.hp2 HG01496.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0005 | a0001c0001t0001g0054a0001c0001t0001g0055a0003c0005t0005g0355others(4): Show | 7 | 364 | 0.0192 | 10 | c.134 others(29): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 11/16 | chr12 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94347050 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp1 others(26): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0001c0001t0009a0007c0010t0001 | a0001c0001t0001g0042a0001c0001t0001g0043a0001c0001t0001g0044others(26): Show | 29 | 364 | 0.0797 | 10 | c.134 others(31): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 11/16 | chr12 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94376688 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG02015.hp2 NA19007.hp2 NA19091.hp1 |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0007c0010t0001 | a0001c0001t0001g0242a0001c0001t0001g0248a0007c0010t0001g0250 | 3 | 364 | 0.0082 | 10 | c.802 others(25): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 7/16 | chr12 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94376690 | T | TATACACA others(3): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02015.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0033a0001c0001t0001g0041a0001c0001t0001g0179others(4): Show | 7 | 364 | 0.0192 | 10 | c.802 others(25): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 7/16 | chr12 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94423457 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02056.hp2 HG02273.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0021a0001c0001t0004g0328a0001c0001t0004g0329others(8): Show | 11 | 364 | 0.0302 | 10 | c.-10 others(31): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 2/16 | chr12 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118491196 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01123.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0004a0003c0003t0003 | a0001c0001t0004g0098a0003c0003t0003g0033 | 2 | 302 | 0.0066 | 10 | c.143 others(27): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 6/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118496356 | T | TTTTTATT others(3): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02886.hp2 HG03209.hp2 others(4): Show |
a0002a0007 | a0002c0002a0007c0007 | a0002c0002t0002a0002c0002t0005a0002c0002t0024others(2): Show | a0002c0002t0002g0228a0002c0002t0005g0262a0002c0002t0005g0264others(4): Show | 7 | 302 | 0.0232 | 10 | c.125 others(29): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 5/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118496356 | T | TTTTTTTT others(3): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0002 | a0002c0012 | a0002c0012t0005 | a0002c0012t0005g0263 | 1 | 302 | 0.0033 | 10 | c.125 others(29): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 5/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118519432 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01069.hp2 HG02818.hp1 others(2): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0001a0002c0002t0002a0006c0006t0009 | a0001c0001t0001g0110a0002c0002t0002g0227a0002c0002t0002g0273others(2): Show | 5 | 302 | 0.0166 | 10 | c.113 others(29): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118519539 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0014 | 1 | 302 | 0.0033 | 10 | c.113 others(29): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118558626 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01123.hp1 HG02145.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0183a0002c0002t0002g0184a0002c0002t0002g0187others(2): Show | 5 | 302 | 0.0166 | 10 | c.102 others(29): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118558652 | C | CAGAGAGA others(3): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02723.hp1 |
a0005 | a0005c0005 | a0005c0005t0008 | a0005c0005t0008g0297a0005c0005t0008g0298 | 2 | 302 | 0.0066 | 10 | c.102 others(29): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118600294 | C | CTGGTGTG others(3): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0011 | a0011c0011 | a0011c0011t0008 | a0011c0011t0008g0294 | 1 | 302 | 0.0033 | 10 | c.232 others(29): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118600370 | T | TGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03688.hp1 |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0262a0002c0002t0005g0277 | 2 | 302 | 0.0066 | 10 | c.232 others(29): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118612676 | C | CGGGGGGG others(3): Show |
intron_variant | MODIFIER | HG02683.hp1 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0155a0001c0001t0012g0065 | 2 | 302 | 0.0066 | 10 | c.232 others(29): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26231666 | C | CTGTGTGT others(3): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284a0001c0001t0001g0285 | 2 | 342 | 0.0059 | 10 | c.-26 others(21): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 2533 | chr1 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26235564 | A | ATTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0323 | 1 | 342 | 0.0029 | 10 | c.-23 others(27): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP85_chr1_26229200_26283808 | 26235567 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01515.hp1 HG02004.hp2 others(7): Show |
a0003a0010 | a0003c0003a0003c0008a0010c0017 | a0003c0003t0004a0003c0003t0006a0003c0008t0004others(1): Show | a0003c0003t0004g0301a0003c0003t0004g0302a0003c0003t0004g0303others(7): Show | 10 | 342 | 0.0292 | 10 | c.-23 others(27): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP85_chr1_26229200_26283808 | 26241244 | A | ATTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(151): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0009a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0009t0003others(11): Show | a0001c0001t0001g0169a0001c0001t0001g0179a0001c0001t0001g0186others(146): Show | 154 | 342 | 0.4503 | 10 | c.55+ others(25): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP85_chr1_26229200_26283808 | 26248722 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG01168.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0011 | a0001c0001t0003a0004c0011t0008 | a0001c0001t0003g0003a0001c0001t0003g0092a0001c0001t0003g0120others(2): Show | 7 | 342 | 0.0205 | 10 | c.208 others(27): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP85_chr1_26229200_26283808 | 26256928 | G | GGGGTGTG others(3): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02257.hp2 HG02723.hp1 others(3): Show |
a0004 | a0004c0004a0004c0010a0004c0011 | a0004c0004t0003a0004c0004t0008a0004c0010t0003others(1): Show | a0004c0004t0003g0292a0004c0004t0003g0295a0004c0004t0008g0293others(3): Show | 6 | 342 | 0.0175 | 10 | c.904 others(25): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP85_chr1_26229200_26283808 | 26272617 | A | ATTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0296 | 1 | 342 | 0.0029 | 10 | c.179 others(27): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP85_chr1_26229200_26283808 | 26273931 | A | AATAAATA others(3): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(19): Show |
a0003a0010 | a0003c0003a0003c0008a0010c0017 | a0003c0003t0004a0003c0003t0006a0003c0008t0004others(1): Show | a0003c0003t0004g0300a0003c0003t0004g0301a0003c0003t0004g0302others(19): Show | 22 | 342 | 0.0643 | 10 | c.179 others(29): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP85_chr1_26229200_26283808 | 26273932 | A | ATAAATAA others(3): Show |
intron_variant | MODIFIER | NA18952.hp2 NA18970.hp1 NA18975.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0092a0001c0001t0003g0120a0001c0001t0003g0124others(2): Show | 5 | 342 | 0.0146 | 10 | c.179 others(29): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 11/13 | chr1 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32892202 | C | CATATATA others(3): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0000 | a0000c0007 | a0000c0007t0004 | a0000c0007t0004g0287 | 1 | 386 | 0.0026 | 10 | c.187 others(29): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 16/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32902004 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01952.hp2 HG02080.hp2 others(7): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0028a0001c0002t0001g0038a0001c0002t0001g0056others(7): Show | 10 | 386 | 0.0259 | 10 | c.156 others(27): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32902010 | C | CTCTCTCT others(3): Show |
intron_variant | MODIFIER | HG01106.hp1 HG03831.hp1 |
a0004 | a0004c0006 | a0004c0006t0009a0004c0006t0027 | a0004c0006t0009g0270a0004c0006t0027g0140 | 2 | 386 | 0.0052 | 10 | c.156 others(27): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32902010 | C | CTCTCTGT others(3): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02083.hp1 HG02615.hp2 others(3): Show |
a0002a0003a0005 | a0002c0001a0003c0019a0005c0008 | a0002c0001t0002a0003c0019t0012a0005c0008t0006 | a0002c0001t0002g0335a0002c0001t0002g0339a0002c0001t0002g0345others(3): Show | 6 | 386 | 0.0155 | 10 | c.156 others(27): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32902010 | C | CTCTGTGT others(3): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00673.hp1 HG01258.hp1 others(26): Show |
a0002a0003a0005 | a0002c0001a0003c0003a0005c0008 | a0002c0001t0002a0002c0001t0008a0002c0001t0017others(3): Show | a0002c0001t0002g0313a0002c0001t0002g0321a0002c0001t0002g0333others(26): Show | 29 | 386 | 0.0751 | 10 | c.156 others(27): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32902010 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00741.hp1 others(15): Show |
a0000a0002a0003 | a0000c0005a0002c0001a0003c0010 | a0000c0005t0005a0000c0005t0019a0000c0005t0020others(3): Show | a0000c0005t0005g0097a0000c0005t0005g0098a0000c0005t0005g0103others(15): Show | 18 | 386 | 0.0466 | 10 | c.156 others(27): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32910265 | C | CAGAGAGA others(3): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0003 | a0003c0010 | a0003c0010t0029 | a0003c0010t0029g0307 | 1 | 386 | 0.0026 | 10 | c.156 others(29): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32930007 | C | CTTCCTTT others(3): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0000 | a0000c0005 | a0000c0005t0023 | a0000c0005t0023g0079 | 1 | 386 | 0.0026 | 10 | c.102 others(29): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 9/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32944220 | T | TAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01257.hp1 HG01884.hp2 others(13): Show |
a0000a0001a0002others(1): Show | a0000c0005a0001c0004a0002c0001others(1): Show | a0000c0005t0023a0001c0004t0001a0002c0001t0002others(1): Show | a0000c0005t0023g0079a0001c0004t0001g0174a0001c0004t0001g0182others(13): Show | 16 | 386 | 0.0415 | 10 | c.595 others(27): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32951530 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0003 | a0003c0010 | a0003c0010t0029 | a0003c0010t0029g0307 | 1 | 386 | 0.0026 | 10 | c.492 others(27): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 4/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32951534 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0005 | a0005c0008 | a0005c0008t0006 | a0005c0008t0006g0093 | 1 | 386 | 0.0026 | 10 | c.492 others(27): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 4/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32951534 | T | TATACACA others(3): Show |
intron_variant | MODIFIER | HG03139.hp2 NA20905.hp2 NA21309.hp1 |
a0004a0005 | a0004c0006a0005c0008 | a0004c0006t0007a0005c0008t0006 | a0004c0006t0007g0132a0004c0006t0007g0147a0005c0008t0006g0092 | 3 | 386 | 0.0078 | 10 | c.492 others(27): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 4/18 | chr19 | TogoVar | ||||||
CEP95_chr17_64501977_64542946 | 64540759 | G | GTATATAT others(3): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG02451.hp2 HG04184.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0074a0001c0001t0002g0016others(1): Show | 4 | 248 | 0.0161 | 10 | c.*29 others(21): Show |
CEP95 | ENSG00000258890.8 | transcript | ENST00000556440.7 | protein_coding | 2814 | chr17 | TogoVar | ||||||
CEP95_chr17_64501977_64542946 | 64540759 | G | GTGTATAT others(3): Show |
downstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 248 | 0.0040 | 10 | c.*29 others(21): Show |
CEP95 | ENSG00000258890.8 | transcript | ENST00000556440.7 | protein_coding | 2814 | chr17 | TogoVar | ||||||
CEP97_chr3_101719614_101775562 | 101730228 | G | GTTGTTTT others(3): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0091 | 1 | 352 | 0.0028 | 10 | c.447 others(27): Show |
CEP97 | ENSG00000182504.12 | transcript | ENST00000341893.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEP97_chr3_101719614_101775562 | 101730231 | T | TTTTTGTT others(3): Show |
intron_variant | MODIFIER | HG01123.hp2 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295a0001c0001t0001g0296 | 2 | 352 | 0.0057 | 10 | c.447 others(27): Show |
CEP97 | ENSG00000182504.12 | transcript | ENST00000341893.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEP97_chr3_101719614_101775562 | 101735940 | A | ACACAGGG others(3): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 | 1 | 352 | 0.0028 | 10 | c.728 others(27): Show |
CEP97 | ENSG00000182504.12 | transcript | ENST00000341893.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEPT1_chr1_111135223_111190104 | 111154187 | G | GTATTTTA others(3): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02071.hp1 HG02148.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0008a0001c0001t0001g0037a0001c0001t0001g0050others(11): Show | 19 | 410 | 0.0463 | 10 | c.340 others(27): Show |
CEPT1 | ENSG00000134255.16 | transcript | ENST00000357172.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CER1_chr9_14714724_14727733 | 14723164 | T | TCACACAC others(3): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 460 | 0.0044 | 10 | c.-49 others(19): Show |
CER1 | ENSG00000147869.5 | transcript | ENST00000380911.4 | protein_coding | 432 | chr9 | TogoVar | ||||||
CERCAM_chr9_128415857_128442347 | 128416841 | C | CTTTGTTT others(3): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00673.hp1 others(15): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0002others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(9): Show | 18 | 400 | 0.0450 | 10 | c.-40 others(21): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 4015 | chr9 | TogoVar | ||||||
CERCAM_chr9_128415857_128442347 | 128437371 | G | GTATATAT others(3): Show |
downstream_gene_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 400 | 0.0025 | 10 | c.*52 others(19): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 25 | chr9 | TogoVar | ||||||
CERCAM_chr9_128415857_128442347 | 128437411 | G | GTGTATAT others(3): Show |
downstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0055 | 1 | 400 | 0.0025 | 10 | c.*56 others(19): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 65 | chr9 | TogoVar | ||||||
CERCAM_chr9_128415857_128442347 | 128440014 | C | CGAGGCAG others(3): Show |
downstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 400 | 0.0025 | 10 | c.*31 others(21): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 2668 | chr9 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181537682 | A | AATATTGA others(3): Show |
3_prime_UTR_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0193 | 1 | 298 | 0.0034 | 10 | c.*49 others(19): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 13/13 | 501 | chr2 | TogoVar |