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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDK12_chr17_39456486_39539544 | 39481682 | CTCTCTCT others(23): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0008 | a0001c0001t0004g0087 a0001c0002t0008g0009 |
2 | 256 | 0.0078 | -30 | c.193 others(49): Show |
CDK12 | ENSG00000167258.16 | transcript | ENST00000447079.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CDK17_chr12_96273261_96405439 | 96277797 | ATATATAT others(23): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(44): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0033 others(44): Show |
47 | 344 | 0.1366 | -30 | c.*24 others(41): Show |
CDK17 | ENSG00000059758.8 | transcript | ENST00000261211.8 | protein_coding | 463 | chr12 | TogoVar | |||||||
CDKAL1_chr6_20529457_21237404 | 20797760 | CTTTATTT others(23): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG03516.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0011 | a0001c0001t0005g0137 a0001c0002t0011g0131 |
2 | 39 | 0.0513 | -30 | c.638 others(49): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20810392 | TCACACAC others(23): Show |
T | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0099 | 1 | 11 | 0.0909 | -30 | c.638 others(49): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKN1C_chr11_2878218_2890775 | 2883222 | AGCATTTT others(23): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0028 | 1 | 416 | 0.0024 | -30 | c.*66 others(39): Show |
CDKN1C | ENSG00000129757.15 | transcript | ENST00000440480.8 | protein_coding | 4/4 | 752 | chr11 | TogoVar | ||||||
CDKN2A_chr9_21962752_21999392 | 21980994 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 401 | 0.0025 | -30 | c.194 others(47): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CDKN3_chr14_54392007_54425218 | 54421310 | GCAGAGGT others(23): Show |
G | downstream_gene_variant | MODIFIER | HG00544.hp1 HG03490.hp1 NA18612.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0137 others(1): Show |
5 | 418 | 0.0120 | -30 | c.*12 others(41): Show |
CDKN3 | ENSG00000100526.21 | transcript | ENST00000335183.11 | protein_coding | 1093 | chr14 | TogoVar | |||||||
CDYL2_chr16_80592907_80809598 | 80672535 | AAAAGGAA others(23): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0242 | 1 | 73 | 0.0137 | -30 | c.616 others(49): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 2/6 | chr16 | TogoVar | |||||||
CEACAM20_chr19_44501159_44534675 | 44510593 | AAAGAAAG others(23): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01069.hp1 HG01167.hp2 others(20): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0012others(4): Show | a0001c0001t0001a0002c0002t0001a0003c0012t0001others(4): Show | a0001c0001t0001g0160 a0002c0002t0001g0003 a0002c0002t0001g0019 others(18): Show |
23 | 433 | 0.0531 | -30 | c.173 others(47): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 11/11 | chr19 | TogoVar | |||||||
CEBPZOS_chr2_37191496_37209743 | 37202644 | CAAAAAAA others(23): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01123.hp1 HG01261.hp1 HG02738.hp1 |
a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0004 | 3 | 104 | 0.0288 | -30 | c.*80 others(39): Show |
CEBPZOS | ENSG00000218739.10 | transcript | ENST00000402297.6 | protein_coding | 5/5 | 939 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CEBPZ_chr2_37196612_37236596 | 37202644 | CAAAAAAA others(23): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG01261.hp2 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 |
3 | 97 | 0.0309 | -30 | c.302 others(47): Show |
CEBPZ | ENSG00000115816.15 | transcript | ENST00000234170.10 | protein_coding | 15/15 | chr2 | TogoVar | |||||||
CELA3A_chr1_21996657_22017542 | 22012106 | CGTATATA others(23): Show |
C | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0109 | 1 | 418 | 0.0024 | -30 | c.796 others(45): Show |
CELA3A | ENSG00000142789.20 | transcript | ENST00000290122.8 | protein_coding | 7/7 | chr1 | TogoVar | |||||||
CELA3A_chr1_21996657_22017542 | 22012146 | CAAATACG others(23): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp2 others(148): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0002c0006others(8): Show | a0001c0001t0001a0001c0003t0001a0002c0006t0001others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(63): Show |
151 | 418 | 0.3612 | -30 | c.796 others(45): Show |
CELA3A | ENSG00000142789.20 | transcript | ENST00000290122.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3299509 | CTCCTCCT others(23): Show |
C | downstream_gene_variant | MODIFIER | HG01106.hp2 HG01175.hp1 HG01516.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0004a0001c0003t0005 | a0001c0001t0004g0008 a0001c0003t0004g0131 a0001c0003t0004g0134 others(3): Show |
6 | 242 | 0.0248 | -30 | c.*27 others(41): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2434 | chr19 | TogoVar | |||||||
CEMIP_chr15_80774370_80956771 | 80848953 | ATTTTTTT others(23): Show |
A | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0102 | 1 | 2 | 0.5000 | -30 | c.-17 others(51): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CENPE_chr4_103100811_103203343 | 103112869 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG03225.hp1 |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001 | a0001c0001t0001g0276 a0005c0006t0001g0167 |
2 | 178 | 0.0112 | -30 | c.754 others(49): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 46/48 | chr4 | TogoVar | |||||||
CENPE_chr4_103100811_103203343 | 103112897 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00621.hp2 HG00738.hp2 others(11): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001 | a0001c0001t0001g0009 a0001c0001t0001g0155 a0001c0001t0001g0159 others(11): Show |
14 | 126 | 0.1111 | -30 | c.754 others(49): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 46/48 | chr4 | TogoVar | |||||||
CENPK_chr5_65512766_65568168 | 65527498 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG02965.hp2 HG03098.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 a0001c0001t0001g0160 a0001c0001t0001g0161 others(1): Show |
4 | 7 | 0.5714 | -30 | c.597 others(45): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 9/10 | chr5 | TogoVar | |||||||
CENPK_chr5_65512766_65568168 | 65545322 | GCGCACAC others(23): Show |
G | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 | 1 | 83 | 0.0120 | -30 | c.242 others(47): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 5/10 | chr5 | TogoVar | |||||||
CENPN_chr16_81002214_81036485 | 81033935 | TACCAGCT others(23): Show |
T | downstream_gene_variant | MODIFIER | NA18997.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0063 | 1 | 396 | 0.0025 | -30 | c.*52 others(41): Show |
CENPN | ENSG00000166451.14 | transcript | ENST00000305850.10 | protein_coding | 2451 | chr16 | TogoVar | |||||||
CENPT_chr16_67823157_67852693 | 67842893 | ACAGCAGC others(23): Show |
A | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 260 | 0.0038 | -30 | c.-49 others(49): Show |
CENPT | ENSG00000102901.13 | transcript | ENST00000562787.6 | protein_coding | 1/15 | chr16 | TogoVar | |||||||
CENPVL1_chrX_51705512_51717131 | 51707495 | AACACACA others(23): Show |
A | upstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 24 | 0.0417 | -30 | c.-30 others(41): Show |
CENPVL1 | ENSG00000223591.5 | transcript | ENST00000602548.2 | protein_coding | 3016 | chrX | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65937665 | GGGCGCCT others(23): Show |
G | intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014 | 1 | 110 | 0.0091 | -30 | c.187 others(50): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 18/26 | chr17 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101911094 | CTTTTTTT others(23): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01069.hp1 HG01099.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006 | a0001c0001t0002g0240 a0001c0001t0005g0112 a0001c0001t0006g0068 others(5): Show |
8 | 14 | 0.5714 | -30 | c.-41 others(41): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 3915 | chr11 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80656275 | TTATTTAT others(23): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02572.hp2 HG02818.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0006a0002c0002t0003 | a0001c0001t0005g0053 a0001c0001t0005g0054 a0001c0001t0006g0157 others(1): Show |
4 | 112 | 0.0357 | -30 | c.280 others(51): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80656279 | TTATATAT others(23): Show |
T | intron_variant | MODIFIER | HG01261.hp1 HG02602.hp2 HG02965.hp1 others(2): Show |
a0002a0004a0012 | a0002c0002a0004c0004a0012c0016 | a0002c0002t0003a0002c0002t0004a0004c0004t0008others(1): Show | a0002c0002t0003g0090 a0002c0002t0003g0141 a0002c0002t0004g0139 others(2): Show |
5 | 123 | 0.0407 | -30 | c.280 others(51): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80729056 | GGGGTGTG others(23): Show |
G | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156 | 1 | 113 | 0.0088 | -30 | c.280 others(51): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP170_chr1_243119428_243260281 | 243226165 | ATAGATAT others(23): Show |
A | intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0154 | 1 | 302 | 0.0033 | -30 | c.-41 others(45): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
CEP57L1_chr6_109090507_109179418 | 109136700 | TTTTTATT others(23): Show |
T | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0173 | 1 | 148 | 0.0068 | -30 | c.-3- others(45): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118567233 | GTGTGTGT others(23): Show |
G | intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0283 | 1 | 280 | 0.0036 | -30 | c.233 others(45): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118567239 | GTGTGTGT others(23): Show |
G | intron_variant | MODIFIER | HG01934.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0266 | 1 | 250 | 0.0040 | -30 | c.233 others(45): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85_chr1_26229200_26283808 | 26282338 | GCCGGGAC others(23): Show |
G | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01099.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0026 a0001c0001t0005g0027 |
2 | 331 | 0.0060 | -30 | c.*50 others(41): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3531 | chr1 | TogoVar | |||||||
CEP85_chr1_26229200_26283808 | 26282362 | GCCGGGAC others(23): Show |
G | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00733.hp2 others(66): Show |
a0001a0007a0009 | a0001c0001a0001c0009a0007c0018others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0009t0003others(2): Show | a0001c0001t0001g0298 a0001c0001t0003g0003 a0001c0001t0003g0092 others(64): Show |
69 | 340 | 0.2029 | -30 | c.*50 others(41): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3555 | chr1 | TogoVar | |||||||
CERCAM_chr9_128415857_128442347 | 128437789 | ATATATAC others(23): Show |
A | downstream_gene_variant | MODIFIER | HG02723.hp2 HG03486.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0174 |
3 | 397 | 0.0076 | -30 | c.*94 others(39): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 443 | chr9 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181538126 | CCACATTT others(23): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00609.hp1 HG00621.hp1 NA19003.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0012 | a0001c0001t0012g0180 a0001c0001t0012g0272 a0001c0002t0012g0124 |
3 | 296 | 0.0101 | -30 | c.*28 others(37): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 13/13 | 28 | chr2 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181641326 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG02056.hp2 HG02083.hp1 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0217 a0001c0001t0001g0261 a0001c0001t0001g0262 others(27): Show |
30 | 296 | 0.1014 | -30 | c.238 others(49): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168743204 | GTGTGTGT others(23): Show |
G | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0076 | 1 | 174 | 0.0057 | -30 | c.846 others(49): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75388599 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0064 | 1 | 29 | 0.0345 | -30 | c.128 others(47): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 12/16 | chr5 | TogoVar | |||||||
CFAP141_chr1_154194085_154211333 | 154203172 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(61): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0034 others(8): Show |
64 | 92 | 0.6957 | -30 | c.74+ others(45): Show |
CFAP141 | ENSG00000163263.7 | transcript | ENST00000368525.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
CFAP20DC_chr3_58737008_59055025 | 58966468 | ATATGTGT others(23): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG01099.hp2 HG01106.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0003g0202 others(2): Show |
5 | 202 | 0.0248 | -30 | c.279 others(49): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 4/16 | chr3 | TogoVar | |||||||
CFAP251_chr12_121913592_122008919 | 121998432 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG01884.hp2 HG02015.hp2 others(35): Show |
a0001 | a0001c0005a0001c0006a0001c0012others(2): Show | a0001c0005t0001a0001c0006t0001a0001c0012t0001others(2): Show | a0001c0005t0001g0271 a0001c0005t0001g0274 a0001c0005t0001g0275 others(35): Show |
38 | 44 | 0.8636 | -30 | c.300 others(49): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80390922 | TATGTATA others(23): Show |
T | intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0046 | 1 | 95 | 0.0105 | -30 | c.242 others(49): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80595255 | TCCCTCCC others(23): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp1 HG02451.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 others(6): Show |
9 | 96 | 0.0938 | -30 | c.333 others(49): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132813508 | TCCCTGCA others(23): Show |
T | intron_variant | MODIFIER | HG02129.hp2 HG02602.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0153 a0002c0002t0001g0155 |
2 | 194 | 0.0103 | -30 | c.738 others(47): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 54/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132837596 | CGCACGGA others(23): Show |
C | intron_variant | MODIFIER | HG03017.hp1 HG03239.hp1 HG03669.hp2 others(1): Show |
a0009a0028a0054 | a0009c0021a0028c0058a0054c0105 | a0009c0021t0001a0028c0058t0001a0054c0105t0001 | a0009c0021t0001g0243 a0009c0021t0001g0244 a0028c0058t0001g0208 others(1): Show |
4 | 244 | 0.0164 | -30 | c.643 others(47): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 44/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132864315 | CTGCCTGA others(23): Show |
C | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0003 | a0003c0028 | a0003c0028t0002 | a0003c0028t0002g0002 | 2 | 235 | 0.0085 | -30 | c.489 others(49): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 35/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132864386 | CTGCACAC others(23): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0005 | a0005c0039 | a0005c0039t0001 | a0005c0039t0001g0139 | 1 | 227 | 0.0044 | -30 | c.489 others(49): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 35/57 | chr10 | TogoVar | |||||||
CFAP47_chrX_35914734_36390317 | 35924025 | ATATATGC others(23): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00621.hp1 others(33): Show |
a0001a0002a0008others(7): Show | a0001c0067a0002c0002a0002c0013others(11): Show | a0001c0067t0001a0002c0002t0001a0002c0013t0001others(11): Show | a0001c0067t0001g0150 a0002c0002t0001g0146 a0002c0002t0001g0151 others(33): Show |
36 | 210 | 0.1714 | -30 | c.250 others(47): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35924062 | CACATATA others(23): Show |
C | intron_variant | MODIFIER | HG02056.hp1 HG02074.hp1 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0120 a0001c0001t0001g0121 |
3 | 192 | 0.0156 | -30 | c.250 others(47): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36364901 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG02559.hp1 HG02922.hp1 others(5): Show |
a0015a0023a0028others(4): Show | a0015c0020a0023c0055a0028c0036others(4): Show | a0015c0020t0001a0023c0055t0001a0028c0036t0001others(4): Show | a0015c0020t0001g0209 a0015c0020t0001g0216 a0023c0055t0001g0207 others(5): Show |
8 | 35 | 0.2286 | -30 | c.902 others(49): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 61/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar |