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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEL_chr9_133056981_133076861 | 133075322 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG01192.hp1 HG01934.hp2 HG01981.hp1 others(7): Show |
a0001a0004a0006others(1): Show | a0001c0190a0001c0197a0001c0200others(5): Show | a0001c0190t0001a0001c0197t0001a0001c0200t0001others(5): Show | a0001c0190t0001g0005a0001c0197t0001g0002a0001c0200t0001g0002others(5): Show | 10 | 416 | 0.0240 | 5 | c.*35 others(16): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 3462 | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71691420 | G | GAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG01081.hp1 others(40): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0013a0001c0015others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(21): Show | a0001c0001t0002g0125a0001c0001t0002g0137a0001c0001t0002g0139others(40): Show | 43 | 320 | 0.1344 | 5 | c.369 others(24): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 21/23 | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71699462 | A | AAAAAG | intron_variant | MODIFIER | HG00438.hp1 HG01081.hp1 HG02055.hp1 others(48): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0009a0001c0013others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(24): Show | a0001c0001t0001g0175a0001c0001t0001g0288a0001c0001t0003g0130others(48): Show | 51 | 320 | 0.1594 | 5 | c.337 others(24): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 19/23 | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71762503 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG00735.hp2 others(88): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0015a0001c0026others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0103a0001c0001t0001g0143a0001c0001t0001g0144others(88): Show | 91 | 320 | 0.2844 | 5 | c.-13 others(22): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 1/23 | chr9 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80899225 | A | AAAAAG | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 HG02630.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0240a0001c0001t0002g0225a0001c0001t0007g0016others(8): Show | 11 | 254 | 0.0433 | 5 | c.141 others(24): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CEMIP_chr15_80774370_80956771 | 80914094 | T | TATGGC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(155): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(27): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008others(155): Show | 158 | 254 | 0.6221 | 5 | c.179 others(24): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 14/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CEMP1_chr16_2525035_2536408 | 2534793 | T | TTTTTA | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02451.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0007 | a0001c0001t0001g0000a0002c0002t0002g0000a0002c0002t0007g0000 | 9 | 348 | 0.0259 | 5 | c.-37 others(16): Show |
CEMP1 | ENSG00000205923.3 | transcript | ENST00000567119.1 | protein_coding | 3386 | chr16 | TogoVar | ||||||
CENPA_chr2_26781056_26799589 | 26784448 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00558.hp1 others(80): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(8): Show | 83 | 382 | 0.2173 | 5 | c.-17 others(16): Show |
CENPA | ENSG00000115163.15 | transcript | ENST00000335756.9 | protein_coding | 1607 | chr2 | TogoVar | ||||||
CENPA_chr2_26781056_26799589 | 26788671 | T | TTTTGA | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01891.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 6 | 382 | 0.0157 | 5 | c.100 others(22): Show |
CENPA | ENSG00000115163.15 | transcript | ENST00000335756.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CENPA_chr2_26781056_26799589 | 26790307 | T | TTTTTA | intron_variant | MODIFIER | HG02451.hp2 HG03225.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021a0001c0002t0001g0042 | 4 | 382 | 0.0105 | 5 | c.101 others(22): Show |
CENPA | ENSG00000115163.15 | transcript | ENST00000335756.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CENPC_chr4_67463762_67550503 | 67491511 | A | AGAGAG | intron_variant | MODIFIER | HG01258.hp2 HG02083.hp2 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0022 | a0001c0001t0001g0103a0001c0001t0009g0181a0001c0001t0022g0195 | 3 | 338 | 0.0089 | 5 | c.251 others(22): Show |
CENPC | ENSG00000145241.11 | transcript | ENST00000273853.11 | protein_coding | 16/18 | chr4 | TogoVar | ||||||
CENPC_chr4_67463762_67550503 | 67508513 | T | TAAAAA | intron_variant | MODIFIER | HG01433.hp2 HG01884.hp2 HG01891.hp2 others(5): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0004a0001c0001t0013a0001c0001t0019others(2): Show | a0001c0001t0004g0020a0001c0001t0004g0092a0001c0001t0004g0097others(5): Show | 8 | 338 | 0.0237 | 5 | c.190 others(22): Show |
CENPC | ENSG00000145241.11 | transcript | ENST00000273853.11 | protein_coding | 10/18 | chr4 | TogoVar | ||||||
CENPE_chr4_103100811_103203343 | 103102346 | T | TATATA | downstream_gene_variant | MODIFIER | HG01099.hp2 HG03669.hp1 NA18940.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005a0002c0002t0001g0032a0002c0002t0001g0038others(1): Show | 5 | 320 | 0.0156 | 5 | c.*38 others(16): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 3464 | chr4 | TogoVar | ||||||
CENPE_chr4_103100811_103203343 | 103104007 | G | GTTTTT | downstream_gene_variant | MODIFIER | HG01175.hp1 HG01243.hp2 HG02258.hp1 others(4): Show |
a0006a0007 | a0006c0008a0007c0010 | a0006c0008t0001a0007c0010t0001 | a0006c0008t0001g0295a0006c0008t0001g0296a0006c0008t0001g0297others(4): Show | 7 | 320 | 0.0219 | 5 | c.*22 others(16): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 1803 | chr4 | TogoVar | ||||||
CENPF_chr1_214598195_214669571 | 214652068 | A | ATTTTT | intron_variant | MODIFIER | HG01109.hp1 HG02486.hp2 HG02559.hp2 others(13): Show |
a0004a0015a0034 | a0004c0004a0015c0019a0034c0054 | a0004c0004t0002a0015c0019t0001a0034c0054t0002 | a0004c0004t0002g0212a0004c0004t0002g0216a0004c0004t0002g0217others(13): Show | 16 | 282 | 0.0567 | 5 | c.816 others(22): Show |
CENPF | ENSG00000117724.15 | transcript | ENST00000366955.8 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CENPH_chr5_69184583_69215357 | 69200719 | C | CTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG01070.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089a0001c0001t0001g0130a0001c0001t0001g0131others(10): Show | 13 | 388 | 0.0335 | 5 | c.372 others(22): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CENPH_chr5_69184583_69215357 | 69204042 | A | AATTTC | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(99): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0005t0001 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(96): Show | 102 | 388 | 0.2629 | 5 | c.487 others(22): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 7/8 | chr5 | TogoVar | ||||||
CENPH_chr5_69184583_69215357 | 69204597 | C | CTTTTT | intron_variant | MODIFIER | HG01074.hp2 HG02280.hp2 HG02486.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0001g0057a0001c0001t0001g0088others(11): Show | 18 | 388 | 0.0464 | 5 | c.487 others(22): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CENPH_chr5_69184583_69215357 | 69205258 | C | CGCTCT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(194): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0019others(165): Show | 197 | 388 | 0.5077 | 5 | c.487 others(22): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CENPI_chrX_101093204_101171126 | 101138691 | T | TCTTGG | intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0257 | 1 | 282 | 0.0036 | 5 | c.147 others(24): Show |
CENPI | ENSG00000102384.14 | transcript | ENST00000682095.1 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CENPI_chrX_101093204_101171126 | 101162471 | A | ATATAT | intron_variant | MODIFIER | HG02258.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0025 | a0001c0001t0024g0007a0001c0001t0025g0008 | 2 | 282 | 0.0071 | 5 | c.213 others(22): Show |
CENPI | ENSG00000102384.14 | transcript | ENST00000682095.1 | protein_coding | 21/21 | chrX | TogoVar | ||||||
CENPI_chrX_101093204_101171126 | 101162473 | A | AAATAT | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0009 | 1 | 282 | 0.0036 | 5 | c.213 others(22): Show |
CENPI | ENSG00000102384.14 | transcript | ENST00000682095.1 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CENPJ_chr13_24877279_24927861 | 24908593 | A | AAAAAT | intron_variant | MODIFIER | HG01243.hp2 HG02896.hp1 HG02897.hp2 others(4): Show |
a0001 | a0001c0010 | a0001c0010t0006 | a0001c0010t0006g0030a0001c0010t0006g0031a0001c0010t0006g0084others(2): Show | 7 | 440 | 0.0159 | 5 | c.866 others(20): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 4/16 | chr13 | TogoVar | ||||||
CENPJ_chr13_24877279_24927861 | 24908613 | T | TAAAAG | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(380): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0002a0001c0004others(23): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0016others(33): Show | a0001c0001t0002g0004a0001c0001t0002g0006a0001c0001t0002g0010others(237): Show | 383 | 440 | 0.8705 | 5 | c.866 others(20): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 4/16 | chr13 | TogoVar | ||||||
CENPK_chr5_65512766_65568168 | 65514228 | A | ATATTT | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG03492.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0289others(1): Show | 7 | 374 | 0.0187 | 5 | c.*42 others(16): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 3537 | chr5 | TogoVar | ||||||
CENPK_chr5_65512766_65568168 | 65532910 | C | CAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG00673.hp2 HG00733.hp2 others(73): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0017a0001c0001t0001g0021a0001c0001t0001g0022others(67): Show | 76 | 374 | 0.2032 | 5 | c.289 others(22): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 6/10 | chr5 | TogoVar | ||||||
CENPO_chr2_24788425_24827376 | 24811282 | C | CTTTTT | intron_variant | MODIFIER | HG00621.hp1 HG01070.hp1 HG02083.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0038 | a0001c0001t0001g0121a0001c0001t0001g0200a0001c0001t0001g0206others(5): Show | 8 | 382 | 0.0209 | 5 | c.217 others(22): Show |
CENPO | ENSG00000138092.11 | transcript | ENST00000380834.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92361440 | C | CTTATT | intron_variant | MODIFIER | HG02559.hp1 HG02615.hp2 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015a0001c0001t0019 | a0001c0001t0001g0241a0001c0001t0001g0242a0001c0001t0001g0243others(3): Show | 6 | 260 | 0.0231 | 5 | c.467 others(24): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92372099 | C | CTTTTT | intron_variant | MODIFIER | HG00673.hp2 HG02486.hp1 HG02615.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0001g0243a0001c0001t0005g0008a0001c0001t0005g0016others(6): Show | 9 | 260 | 0.0346 | 5 | c.468 others(22): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92504184 | T | TAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG01168.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0046others(1): Show | a0001c0001t0005g0008a0001c0001t0005g0016a0001c0001t0005g0017others(18): Show | 21 | 260 | 0.0808 | 5 | c.565 others(26): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92548224 | T | TTTCGA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(96): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(19): Show | a0001c0001t0001g0015a0001c0001t0001g0135a0001c0001t0001g0137others(96): Show | 99 | 260 | 0.3808 | 5 | c.565 others(24): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92565293 | T | TAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG00673.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0013others(3): Show | a0001c0001t0002g0048a0001c0001t0002g0074a0001c0001t0002g0079others(14): Show | 17 | 260 | 0.0654 | 5 | c.565 others(24): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92582030 | G | GTGTTT | intron_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG01081.hp2 others(32): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0038a0001c0001t0001g0142a0001c0001t0001g0143others(32): Show | 35 | 260 | 0.1346 | 5 | c.565 others(24): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPS_chr1_10425433_10447808 | 10429942 | A | AACTAT | upstream_gene_variant | MODIFIER | HG02559.hp1 HG02717.hp1 HG02818.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0065 | 7 | 410 | 0.0171 | 5 | c.-57 others(14): Show |
CENPS | ENSG00000175279.22 | transcript | ENST00000309048.8 | protein_coding | 490 | chr1 | TogoVar | ||||||
CENPU_chr4_184689085_184739096 | 184712119 | C | CAAAAA | intron_variant | MODIFIER | HG01081.hp1 HG01167.hp1 HG01884.hp1 others(11): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0027a0003c0003t0003g0267a0003c0003t0003g0269others(10): Show | 14 | 358 | 0.0391 | 5 | c.688 others(20): Show |
CENPU | ENSG00000151725.12 | transcript | ENST00000281453.10 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CENPVL1_chrX_51705512_51717131 | 51705960 | T | TTATGG | upstream_gene_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 238 | 0.0042 | 5 | c.-45 others(16): Show |
CENPVL1 | ENSG00000223591.5 | transcript | ENST00000602548.2 | protein_coding | 4551 | chrX | TogoVar | ||||||
CENPV_chr17_16337537_16358469 | 16340427 | A | ATTTTT | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00741.hp2 others(41): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0009others(19): Show | 44 | 356 | 0.1236 | 5 | c.*23 others(16): Show |
CENPV | ENSG00000166582.11 | transcript | ENST00000299736.5 | protein_coding | 2109 | chr17 | TogoVar | ||||||
CENPW_chr6_126335115_126353875 | 126345679 | A | ATAACT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(196): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(37): Show | 199 | 292 | 0.6815 | 5 | c.127 others(20): Show |
CENPW | ENSG00000203760.9 | transcript | ENST00000368328.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP104_chr1_3807086_3862211 | 3807941 | G | GATCTC | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(244): Show |
a0001a0003a0004others(12): Show | a0001c0001a0001c0006a0003c0003others(14): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(41): Show | a0001c0001t0003g0009a0001c0001t0003g0025a0001c0001t0003g0026others(205): Show | 247 | 382 | 0.6466 | 5 | c.*74 others(16): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 4144 | chr1 | TogoVar | ||||||
CEP104_chr1_3807086_3862211 | 3848531 | C | CAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp1 others(120): Show |
a0002a0007 | a0002c0002a0002c0005a0002c0012others(1): Show | a0002c0002t0001a0002c0002t0011a0002c0002t0022others(6): Show | a0002c0002t0001g0001a0002c0002t0001g0006a0002c0002t0001g0007others(92): Show | 123 | 382 | 0.3220 | 5 | c.287 others(18): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 3/21 | chr1 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65650730 | T | TAAAAA | intron_variant | MODIFIER | HG00741.hp1 HG01346.hp2 HG02622.hp2 others(2): Show |
a0001a0003 | a0001c0002a0001c0003a0003c0005 | a0001c0002t0001a0001c0003t0001a0001c0003t0007others(1): Show | a0001c0002t0001g0021a0001c0002t0001g0071a0001c0003t0001g0006others(2): Show | 5 | 112 | 0.0446 | 5 | c.269 others(24): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 24/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65659015 | C | CAAAAA | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02145.hp1 others(7): Show |
a0001a0002a0004 | a0001c0002a0002c0001a0004c0006 | a0001c0002t0001a0002c0001t0001a0002c0001t0002others(2): Show | a0001c0002t0001g0069a0001c0002t0001g0073a0001c0002t0001g0103others(7): Show | 10 | 112 | 0.0893 | 5 | c.269 others(26): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 24/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65690425 | C | CAAAAA | intron_variant | MODIFIER | HG01891.hp2 HG02486.hp1 HG02717.hp2 others(1): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(1): Show | a0001c0002t0001g0020a0001c0003t0001g0005a0002c0001t0001g0066others(1): Show | 4 | 112 | 0.0357 | 5 | c.260 others(24): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 23/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65870065 | G | GAAAGA | intron_variant | MODIFIER | HG03139.hp1 HG03225.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034a0001c0002t0001g0035 | 2 | 112 | 0.0179 | 5 | c.216 others(26): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 20/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65937702 | G | GGGGTC | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00735.hp1 others(35): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0003c0005t0001 | a0001c0002t0001g0011a0001c0002t0001g0020a0001c0002t0001g0021others(35): Show | 38 | 112 | 0.3393 | 5 | c.187 others(26): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 18/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66005928 | A | AATACT | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00642.hp2 others(38): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0003c0005t0001 | a0001c0002t0001g0011a0001c0002t0001g0014a0001c0002t0001g0020others(38): Show | 41 | 112 | 0.3661 | 5 | c.165 others(22): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 16/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66132168 | C | CAAAAA | intron_variant | MODIFIER | HG02027.hp2 HG02145.hp1 HG02451.hp1 others(2): Show |
a0001a0002a0004 | a0001c0003a0002c0001a0004c0006 | a0001c0003t0002a0002c0001t0001a0002c0001t0002others(2): Show | a0001c0003t0002g0109a0002c0001t0001g0044a0002c0001t0002g0111others(2): Show | 5 | 112 | 0.0446 | 5 | c.564 others(20): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 5/26 | chr17 | TogoVar | ||||||
CEP120_chr5_123339892_123428403 | 123404165 | T | TCATAA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(177): Show |
a0001a0002a0003others(3): Show | a0001c0006a0001c0011a0001c0016others(8): Show | a0001c0006t0002a0001c0006t0003a0001c0006t0008others(16): Show | a0001c0006t0002g0006a0001c0006t0002g0204a0001c0006t0002g0205others(157): Show | 180 | 376 | 0.4787 | 5 | c.464 others(22): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 4/19 | chr5 | TogoVar | ||||||
CEP120_chr5_123339892_123428403 | 123409992 | C | CACACA | intron_variant | MODIFIER | HG00597.hp2 NA18972.hp2 NA18995.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0123a0002c0002t0001g0126a0002c0002t0001g0130 | 3 | 376 | 0.0080 | 5 | c.463 others(22): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 4/19 | chr5 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101938159 | C | CAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG02071.hp2 HG03130.hp1 others(6): Show |
a0001a0002a0007 | a0001c0001a0002c0003a0007c0007 | a0001c0001t0002a0001c0001t0009a0002c0003t0003others(3): Show | a0001c0001t0002g0208a0001c0001t0002g0226a0001c0001t0009g0301others(6): Show | 9 | 336 | 0.0268 | 5 | c.249 others(22): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |