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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CELF4_chr18_37238040_37570798 | 37353233 | A | ATATATAT | intron_variant | MODIFIER | HG01496.hp2 HG02109.hp2 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0011 | a0001c0002t0003g0064 a0001c0002t0011g0135 |
2 | 57 | 0.0351 | 7 | c.370 others(26): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | |||||||
CELF4_chr18_37238040_37570798 | 37464282 | G | GTCTGGGC | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(64): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0050 a0001c0001t0001g0071 a0001c0001t0001g0075 others(64): Show |
67 | 182 | 0.3681 | 7 | c.369 others(26): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | |||||||
CELF5_chr19_3219661_3302076 | 3298511 | T | TCCCCACC | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00642.hp1 others(47): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0115 a0001c0001t0001g0138 a0001c0001t0001g0142 others(47): Show |
50 | 258 | 0.1938 | 7 | c.*17 others(18): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 1436 | chr19 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46385975 | C | CTTTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp1 HG01261.hp2 others(14): Show |
a0002a0006a0010others(9): Show | a0002c0005a0002c0012a0002c0015others(13): Show | a0002c0005t0002a0002c0012t0003a0002c0015t0001others(13): Show | a0002c0005t0002g0036 a0002c0005t0002g0065 a0002c0012t0003g0012 others(14): Show |
17 | 85 | 0.2000 | 7 | c.673 others(24): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 19/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46474788 | C | CTTTTTTT | intron_variant | MODIFIER | HG00741.hp2 HG01099.hp1 HG01099.hp2 others(18): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0004others(17): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(17): Show | a0001c0001t0001g0072 a0001c0001t0001g0084 a0001c0002t0001g0013 others(18): Show |
21 | 42 | 0.5000 | 7 | c.354 others(28): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71719842 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00438.hp1 others(104): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0013a0001c0015others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0104 a0001c0001t0001g0141 a0001c0001t0001g0149 others(104): Show |
107 | 120 | 0.8917 | 7 | c.226 others(26): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 12/23 | chr9 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71726433 | A | AGTGAACT | intron_variant | MODIFIER | HG01070.hp1 HG01109.hp1 HG01167.hp1 others(25): Show |
a0005a0008 | a0005c0004a0005c0017a0008c0011others(1): Show | a0005c0004t0001a0005c0004t0008a0005c0004t0011others(11): Show | a0005c0004t0001g0231 a0005c0004t0001g0232 a0005c0004t0001g0233 others(25): Show |
28 | 318 | 0.0881 | 7 | c.205 others(24): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 10/23 | chr9 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71734208 | G | GGTTTTTT | intron_variant | MODIFIER | HG01070.hp1 HG01169.hp2 HG01175.hp2 others(17): Show |
a0005a0008 | a0005c0004a0008c0011 | a0005c0004t0001a0005c0004t0008a0005c0004t0011others(7): Show | a0005c0004t0001g0231 a0005c0004t0008g0128 a0005c0004t0011g0005 others(17): Show |
20 | 310 | 0.0645 | 7 | c.139 others(24): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 6/23 | chr9 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71762503 | C | CAAAAAAA | intron_variant | MODIFIER | HG01081.hp1 HG01255.hp2 HG01361.hp2 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0013a0002c0008others(3): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(14): Show | a0001c0001t0002g0122 a0001c0001t0006g0291 a0001c0001t0008g0213 others(15): Show |
18 | 72 | 0.2500 | 7 | c.-13 others(24): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 1/23 | chr9 | TogoVar | |||||||
CEMIP_chr15_80774370_80956771 | 80917287 | G | GGGCAGGA | intron_variant | MODIFIER | HG00544.hp2 HG00735.hp1 HG00741.hp1 others(54): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(18): Show | a0001c0001t0001g0098 a0001c0001t0001g0109 a0001c0001t0001g0243 others(54): Show |
57 | 98 | 0.5816 | 7 | c.179 others(26): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 14/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80955487 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01109.hp2 HG01975.hp1 others(11): Show |
a0001 | a0001c0002a0001c0005a0001c0007others(3): Show | a0001c0002t0003a0001c0005t0003a0001c0005t0008others(5): Show | a0001c0002t0003g0103 a0001c0005t0003g0122 a0001c0005t0003g0162 others(11): Show |
14 | 241 | 0.0581 | 7 | c.*65 others(18): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 3717 | chr15 | TogoVar | |||||||
CEMIP_chr15_80774370_80956771 | 80955501 | A | AAAAAAAC | downstream_gene_variant | MODIFIER | HG01243.hp2 HG03139.hp1 HG03195.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0005others(3): Show | a0001c0001t0001g0015 a0001c0001t0005g0249 a0001c0003t0005g0105 others(4): Show |
7 | 251 | 0.0279 | 7 | c.*65 others(18): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 3731 | chr15 | TogoVar | |||||||
CENPA_chr2_26781056_26799589 | 26788151 | A | ATTCTTTC | intron_variant | MODIFIER | HG02257.hp1 HG02486.hp1 HG02559.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0005 a0001c0001t0010g0031 |
11 | 380 | 0.0289 | 7 | c.100 others(24): Show |
CENPA | ENSG00000115163.15 | transcript | ENST00000335756.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CENPB_chr20_3778851_3791740 | 3789677 | T | TAATAATA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(282): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(20): Show |
285 | 408 | 0.6985 | 7 | c.-32 others(18): Show |
CENPB | ENSG00000125817.8 | transcript | ENST00000379751.5 | protein_coding | 2938 | chr20 | TogoVar | |||||||
CENPF_chr1_214598195_214669571 | 214652068 | A | ATTTTTTT | intron_variant | MODIFIER | HG02109.hp2 HG02896.hp2 HG02897.hp1 others(5): Show |
a0006 | a0006c0007a0006c0030 | a0006c0007t0002a0006c0030t0002 | a0006c0007t0002g0006 a0006c0007t0002g0047 a0006c0007t0002g0049 others(1): Show |
8 | 153 | 0.0523 | 7 | c.816 others(24): Show |
CENPF | ENSG00000117724.15 | transcript | ENST00000366955.8 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CENPH_chr5_69184583_69215357 | 69195887 | T | TAGTCAAG | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(194): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(127): Show |
197 | 386 | 0.5104 | 7 | c.314 others(21): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CENPH_chr5_69184583_69215357 | 69204597 | C | CTTTTTTT | intron_variant | MODIFIER | HG00609.hp1 HG00642.hp2 HG00735.hp1 others(45): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0004c0004t0001 | a0001c0001t0001g0012 a0001c0001t0001g0055 a0001c0001t0001g0063 others(35): Show |
48 | 212 | 0.2264 | 7 | c.487 others(24): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CENPJ_chr13_24877279_24927861 | 24882086 | C | CATCTATA | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01243.hp1 HG03486.hp1 |
a0002a0013 | a0002c0003a0013c0027 | a0002c0003t0003a0002c0003t0009a0013c0027t0009 | a0002c0003t0003g0120 a0002c0003t0009g0071 a0013c0027t0009g0072 |
3 | 389 | 0.0077 | 7 | c.*10 others(18): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 192 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24908458 | A | AAAAAAAG | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02280.hp1 others(3): Show |
a0002a0013 | a0002c0003a0013c0027 | a0002c0003t0009a0013c0027t0009 | a0002c0003t0009g0069 a0002c0003t0009g0070 a0002c0003t0009g0071 others(3): Show |
6 | 437 | 0.0137 | 7 | c.866 others(22): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 4/16 | chr13 | TogoVar | |||||||
CENPK_chr5_65512766_65568168 | 65532910 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG01934.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0207 a0001c0001t0002g0067 a0001c0001t0002g0071 others(5): Show |
8 | 36 | 0.2222 | 7 | c.289 others(24): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
CENPO_chr2_24788425_24827376 | 24811282 | C | CTTTTTTT | intron_variant | MODIFIER | HG00733.hp1 HG00741.hp1 HG01168.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0021others(2): Show | a0001c0001t0001g0036 a0001c0001t0001g0117 a0001c0001t0001g0118 others(17): Show |
22 | 76 | 0.2895 | 7 | c.217 others(24): Show |
CENPO | ENSG00000138092.11 | transcript | ENST00000380834.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CENPO_chr2_24788425_24827376 | 24817466 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(173): Show |
a0001a0003a0007others(1): Show | a0001c0001a0003c0007a0007c0006others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(115): Show |
176 | 230 | 0.7652 | 7 | c.767 others(22): Show |
CENPO | ENSG00000138092.11 | transcript | ENST00000380834.7 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92533322 | A | ATATATAT | intron_variant | MODIFIER | HG03471.hp1 NA18955.hp1 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0014 | a0001c0001t0003g0167 a0001c0001t0011g0199 a0001c0001t0014g0163 |
3 | 237 | 0.0127 | 7 | c.565 others(26): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | chr9 | TogoVar | |||||||
CENPP_chr9_92320953_92625529 | 92565293 | T | TAAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG02486.hp2 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006 | a0001c0001t0002g0035 a0001c0001t0004g0049 a0001c0001t0004g0061 others(3): Show |
6 | 57 | 0.1053 | 7 | c.565 others(26): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPU_chr4_184689085_184739096 | 184692449 | G | GGGAGACA | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01081.hp1 HG01109.hp1 others(23): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0005others(2): Show | a0001c0001t0017a0003c0003t0003a0004c0005t0016others(2): Show | a0001c0001t0017g0150 a0003c0003t0003g0027 a0003c0003t0003g0028 others(21): Show |
26 | 356 | 0.0730 | 7 | c.*28 others(18): Show |
CENPU | ENSG00000151725.12 | transcript | ENST00000281453.10 | protein_coding | 1635 | chr4 | TogoVar | |||||||
CENPU_chr4_184689085_184739096 | 184712119 | C | CAAAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG01123.hp1 HG01243.hp1 others(17): Show |
a0003a0004 | a0003c0003a0003c0008a0004c0005others(1): Show | a0003c0003t0003a0003c0008t0004a0004c0005t0004others(1): Show | a0003c0003t0003g0243 a0003c0003t0003g0244 a0003c0008t0004g0241 others(11): Show |
20 | 257 | 0.0778 | 7 | c.688 others(22): Show |
CENPU | ENSG00000151725.12 | transcript | ENST00000281453.10 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CENPU_chr4_184689085_184739096 | 184727116 | C | CAAAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00733.hp2 others(26): Show |
a0003a0004a0006 | a0003c0003a0003c0008a0004c0005others(2): Show | a0003c0003t0003a0003c0008t0004a0004c0005t0004others(2): Show | a0003c0003t0003g0243 a0003c0003t0003g0244 a0003c0008t0004g0158 others(17): Show |
29 | 318 | 0.0912 | 7 | c.214 others(24): Show |
CENPU | ENSG00000151725.12 | transcript | ENST00000281453.10 | protein_coding | 3/12 | chr4 | TogoVar | |||||||
CEP104_chr1_3807086_3862211 | 3856816 | G | GCCCGCGC | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02622.hp2 others(7): Show |
a0001a0015 | a0001c0006a0015c0010 | a0001c0006t0006a0015c0010t0006 | a0001c0006t0006g0021 a0001c0006t0006g0125 a0001c0006t0006g0127 others(6): Show |
10 | 272 | 0.0368 | 7 | c.-15 others(20): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 1/21 | chr1 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65640154 | A | ATATATAT | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02257.hp2 others(2): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0001 | a0001c0003t0001g0005 a0001c0003t0001g0007 a0002c0001t0001g0023 others(2): Show |
5 | 32 | 0.1563 | 7 | c.279 others(24): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 25/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65640155 | T | TATATATA | intron_variant | MODIFIER | HG01346.hp2 HG02717.hp2 HG02976.hp2 |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0001a0002c0001t0001 | a0001c0002t0001g0020 a0001c0003t0001g0006 a0002c0001t0001g0069 |
3 | 110 | 0.0273 | 7 | c.279 others(24): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 25/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65773650 | C | CCCTATCA | intron_variant | MODIFIER | HG02055.hp2 HG02622.hp2 HG02965.hp1 others(2): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0001a0002c0001t0001 | a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0078 others(2): Show |
5 | 110 | 0.0455 | 7 | c.239 others(28): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 21/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65778606 | A | AGAAGGCT | intron_variant | MODIFIER | HG01109.hp2 HG03579.hp2 NA19240.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0006a0001c0003t0007 | a0001c0003t0001g0009 a0001c0003t0006g0003 a0001c0003t0007g0004 |
3 | 110 | 0.0273 | 7 | c.239 others(28): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 21/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65951749 | C | CCCCCCCG | intron_variant | MODIFIER | HG00280.hp1 HG01258.hp1 HG01517.hp1 others(5): Show |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0001a0004c0005t0001 | a0001c0002t0001g0014 a0001c0002t0001g0020 a0001c0002t0001g0085 others(5): Show |
8 | 77 | 0.1039 | 7 | c.187 others(26): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 18/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66003990 | T | TTATAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00642.hp2 others(37): Show |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0001a0004c0005t0001 | a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0020 others(37): Show |
40 | 110 | 0.3636 | 7 | c.173 others(26): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 17/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66166912 | A | AAAAAAAC | intron_variant | MODIFIER | HG02027.hp2 HG02145.hp1 HG02280.hp1 others(1): Show |
a0001a0002a0003 | a0001c0003a0002c0001a0003c0006 | a0001c0003t0002a0002c0001t0002a0003c0006t0002 | a0001c0003t0002g0109 a0001c0003t0002g0112 a0002c0001t0002g0111 others(1): Show |
4 | 110 | 0.0364 | 7 | c.470 others(24): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 4/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66177427 | C | CTTTAATT | intron_variant | MODIFIER | HG02027.hp2 HG02145.hp1 HG02280.hp1 others(1): Show |
a0001a0002a0003 | a0001c0003a0002c0001a0003c0006 | a0001c0003t0002a0002c0001t0002a0003c0006t0002 | a0001c0003t0002g0109 a0001c0003t0002g0112 a0002c0001t0002g0111 others(1): Show |
4 | 110 | 0.0364 | 7 | c.107 others(22): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 2/26 | chr17 | TogoVar | |||||||
CEP120_chr5_123339892_123428403 | 123409992 | C | CACACACA | intron_variant | MODIFIER | HG01123.hp2 HG01891.hp2 HG02071.hp1 others(9): Show |
a0001a0003 | a0001c0006a0003c0003 | a0001c0006t0009a0003c0003t0001 | a0001c0006t0009g0030 a0003c0003t0001g0021 a0003c0003t0001g0022 others(7): Show |
12 | 205 | 0.0585 | 7 | c.463 others(24): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 4/19 | chr5 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80541443 | T | TTAAAAAA | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG00741.hp1 others(10): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0001c0009others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0002g0104 a0001c0001t0003g0149 a0001c0001t0005g0043 others(10): Show |
13 | 98 | 0.1327 | 7 | c.288 others(28): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 21/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80580466 | A | AACGAGTT | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG00735.hp2 others(46): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0008a0001c0009others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0032 others(46): Show |
49 | 162 | 0.3025 | 7 | c.280 others(22): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80617219 | C | CTTTTTTT | intron_variant | MODIFIER | HG00733.hp2 HG02132.hp2 NA18906.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(2): Show | a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0002g0156 others(3): Show |
6 | 14 | 0.4286 | 7 | c.280 others(28): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80626470 | C | CAAAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG01123.hp2 HG01192.hp1 others(5): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0005a0002c0002t0003a0002c0002t0004others(3): Show | a0001c0001t0005g0053 a0001c0001t0005g0054 a0002c0002t0003g0079 others(5): Show |
8 | 34 | 0.2353 | 7 | c.280 others(28): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80673645 | C | CAAAAAAA | intron_variant | MODIFIER | HG00741.hp1 HG01175.hp2 HG01261.hp1 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0003a0002c0002t0004others(1): Show | a0001c0001t0001g0019 a0002c0002t0003g0081 a0002c0002t0003g0090 others(2): Show |
5 | 23 | 0.2174 | 7 | c.280 others(28): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80677508 | C | CAAAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01123.hp1 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0002g0099 others(24): Show |
27 | 48 | 0.5625 | 7 | c.280 others(28): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80737419 | A | AAAAAGAT | intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02280.hp1 others(17): Show |
a0001a0005a0007others(1): Show | a0001c0001a0001c0022a0005c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0012 a0001c0001t0002g0129 a0001c0001t0002g0130 others(17): Show |
20 | 162 | 0.1235 | 7 | c.280 others(26): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81197380 | A | ACGGGTGG | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(152): Show |
a0001a0002a0003others(21): Show | a0001c0003a0001c0004a0001c0051others(34): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0005others(40): Show | a0001c0003t0001g0264 a0001c0003t0001g0293 a0001c0003t0002g0006 others(135): Show |
155 | 382 | 0.4058 | 7 | c.164 others(24): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 13/25 | chr17 | TogoVar | |||||||
CEP135_chr4_55943945_56038361 | 55961764 | T | TAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG01255.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0023 | a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0051 others(13): Show |
17 | 104 | 0.1635 | 7 | c.699 others(24): Show |
CEP135 | ENSG00000174799.12 | transcript | ENST00000257287.5 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CEP152_chr15_48732938_48816069 | 48758718 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(85): Show |
a0001a0002a0004others(10): Show | a0001c0001a0002c0002a0004c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(11): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(81): Show |
88 | 137 | 0.6423 | 7 | c.269 others(26): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 19/26 | chr15 | TogoVar | |||||||
CEP170_chr1_243119428_243260281 | 243178308 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00738.hp2 HG01978.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 a0001c0001t0002g0094 a0001c0001t0002g0130 others(14): Show |
17 | 129 | 0.1318 | 7 | c.156 others(26): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 10/19 | chr1 | TogoVar | |||||||
CEP192_chr18_12986362_13130036 | 13000091 | C | CTCTCTTT | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00609.hp2 others(27): Show |
a0002a0011a0020others(2): Show | a0002c0001a0002c0022a0002c0023others(4): Show | a0002c0001t0001a0002c0022t0001a0002c0023t0001others(4): Show | a0002c0001t0001g0020 a0002c0001t0001g0021 a0002c0001t0001g0022 others(24): Show |
30 | 181 | 0.1657 | 7 | c.164 others(22): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 2/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CEP20_chr16_15860719_15893603 | 15890556 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02922.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0004a0002c0002t0008 | a0001c0001t0005g0058 a0001c0001t0005g0060 a0001c0001t0005g0061 others(4): Show |
8 | 162 | 0.0494 | 7 | c.-19 others(18): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 1954 | chr16 | TogoVar |