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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDH7_chr18_65746012_65895337 | 65782107 | C | CTTCCTTC others(45): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0036 | a0002c0002t0036g0021 | 1 | 208 | 0.0048 | 52 | c.210 others(71): Show |
CDH7 | ENSG00000081138.14 | transcript | ENST00000397968.4 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CDH7_chr18_65746012_65895337 | 65830721 | C | CTCTTTCT others(45): Show |
intron_variant | MODIFIER | HG03831.hp2 NA18966.hp1 |
a0002 | a0002c0002 | a0002c0002t0010a0002c0002t0097 | a0002c0002t0010g0044 a0002c0002t0097g0065 |
2 | 208 | 0.0096 | 52 | c.981 others(69): Show |
CDH7 | ENSG00000081138.14 | transcript | ENST00000397968.4 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CDH7_chr18_65746012_65895337 | 65844174 | G | GATTTATA others(45): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0002 | a0002c0002t0075 | a0002c0002t0075g0108 | 1 | 208 | 0.0048 | 52 | c.123 others(69): Show |
CDH7 | ENSG00000081138.14 | transcript | ENST00000397968.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CDH8_chr16_61642250_62041438 | 61960254 | C | CACACATA others(45): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0008 | a0001c0008t0011 | a0001c0008t0011g0151 | 1 | 168 | 0.0060 | 52 | c.253 others(71): Show |
CDH8 | ENSG00000150394.14 | transcript | ENST00000577390.6 | protein_coding | 2/11 | chr16 | TogoVar | |||||||
CDH9_chr5_26875597_27043586 | 26977489 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG02818.hp2 NA21309.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0158 a0003c0003t0001g0133 |
2 | 240 | 0.0083 | 52 | c.228 others(71): Show |
CDH9 | ENSG00000113100.10 | transcript | ENST00000231021.9 | protein_coding | 2/11 | chr5 | TogoVar | |||||||
CDKAL1_chr6_20529457_21237404 | 20992208 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0022 | 1 | 196 | 0.0051 | 52 | c.910 others(69): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 125974394 | G | GAGGGAGG others(45): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0058 | 1 | 334 | 0.0030 | 52 | c.335 others(71): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 18/19 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 125974402 | G | GAGGGAGG others(45): Show |
intron_variant | MODIFIER | HG01255.hp2 NA18966.hp1 |
a0001a0006 | a0001c0021a0006c0011 | a0001c0021t0064a0006c0011t0002 | a0001c0021t0064g0094 a0006c0011t0002g0105 |
2 | 334 | 0.0060 | 52 | c.335 others(71): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 18/19 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 125974402 | G | GAGGGAGG others(45): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0150 | 1 | 334 | 0.0030 | 52 | c.335 others(71): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 18/19 | chr11 | TogoVar | |||||||
CDS1_chr4_84578127_84656334 | 84635625 | G | GCCTGCCT others(45): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 384 | 0.0026 | 52 | c.810 others(67): Show |
CDS1 | ENSG00000163624.6 | transcript | ENST00000295887.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CDYL_chr6_4771404_4960544 | 4894856 | T | TGTGTGTG others(45): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0010 a0001c0001t0002g0047 |
2 | 250 | 0.0080 | 52 | c.691 others(69): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 2/6 | chr6 | TogoVar | |||||||
CDYL_chr6_4771404_4960544 | 4895265 | A | ACATGTAT others(45): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 a0001c0001t0002g0154 |
2 | 250 | 0.0080 | 52 | c.691 others(69): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDYL_chr6_4771404_4960544 | 4895427 | A | ATGTGTAT others(45): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 250 | 0.0040 | 52 | c.691 others(69): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDYL_chr6_4771404_4960544 | 4895427 | A | ATGTGTAT others(45): Show |
intron_variant | MODIFIER | HG01257.hp2 HG02698.hp2 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0213 a0001c0001t0002g0068 a0001c0001t0002g0093 |
3 | 250 | 0.0120 | 52 | c.691 others(69): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3235654 | A | ATGGATGG others(45): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0247 a0001c0001t0004g0109 |
2 | 262 | 0.0076 | 52 | c.259 others(71): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71728267 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0009 | a0009c0016 | a0009c0016t0004 | a0009c0016t0004g0135 | 1 | 320 | 0.0031 | 52 | c.204 others(71): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 10/23 | chr9 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71756191 | C | CTAGATAG others(45): Show |
intron_variant | MODIFIER | HG02257.hp2 HG04199.hp2 |
a0005 | a0005c0004a0005c0017 | a0005c0004t0001a0005c0017t0001 | a0005c0004t0001g0232 a0005c0017t0001g0230 |
2 | 320 | 0.0063 | 52 | c.-12 others(69): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 1/23 | chr9 | TogoVar | |||||||
CENPC_chr4_67463762_67550503 | 67491465 | A | AGAGAGAG others(45): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0087 | 1 | 338 | 0.0030 | 52 | c.251 others(69): Show |
CENPC | ENSG00000145241.11 | transcript | ENST00000273853.11 | protein_coding | 16/18 | chr4 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24881984 | A | ATAGATAC others(45): Show |
downstream_gene_variant | MODIFIER | NA18969.hp1 NA19012.hp1 NA19079.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0008 a0001c0004t0001g0012 a0001c0004t0001g0245 |
3 | 440 | 0.0068 | 52 | c.*11 others(63): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 294 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24882088 | A | ATATAGAT others(45): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0005 | a0005c0008 | a0005c0008t0006 | a0005c0008t0006g0014 | 1 | 440 | 0.0023 | 52 | c.*10 others(63): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 190 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24882090 | A | ATAGATAT others(45): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG01978.hp2 HG02074.hp1 others(14): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0003 a0002c0003t0003g0036 a0002c0003t0003g0037 others(9): Show |
17 | 440 | 0.0386 | 52 | c.*10 others(63): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 188 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24882133 | G | GATACATC others(45): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0010 | a0001c0010t0006 | a0001c0010t0006g0086 | 1 | 440 | 0.0023 | 52 | c.*10 others(63): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 145 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24882151 | G | GATACATC others(45): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 | a0005 | a0005c0008 | a0005c0008t0006 | a0005c0008t0006g0014 | 1 | 440 | 0.0023 | 52 | c.*10 others(63): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 127 | chr13 | TogoVar | |||||||
CENPP_chr9_92320953_92625529 | 92352505 | G | GTGTGTGT others(45): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0140 | 1 | 260 | 0.0039 | 52 | c.467 others(69): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92567373 | G | GATATATA others(45): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 260 | 0.0039 | 52 | c.565 others(71): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CEP170B_chr14_104860268_104901747 | 104884896 | C | CGGGGGGG others(45): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 328 | 0.0031 | 52 | c.177 others(69): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 650363 | T | TGGACTGT others(45): Show |
intron_variant | MODIFIER | HG01981.hp2 NA18942.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0074 a0002c0002t0001g0084 |
2 | 91 | 0.0220 | 52 | c.177 others(71): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GGGGGGGG others(45): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0208 | 1 | 302 | 0.0033 | 52 | c.232 others(71): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GGGGGGGG others(45): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0187 | 1 | 302 | 0.0033 | 52 | c.232 others(71): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GGGGGGGG others(45): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0012 | 1 | 302 | 0.0033 | 52 | c.232 others(71): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CER1_chr9_14714724_14727733 | 14719553 | G | GCATTCCT others(45): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG01891.hp2 HG02129.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004 a0002c0002t0002g0038 |
10 | 460 | 0.0217 | 52 | c.*53 others(61): Show |
CER1 | ENSG00000147869.5 | transcript | ENST00000380911.4 | protein_coding | 170 | chr9 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100466837 | C | CTCTTTCT others(45): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 362 | 0.0028 | 52 | c.845 others(69): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50156437 | T | TATATATA others(45): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01515.hp2 NA19089.hp1 |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0012 | a0002c0003t0003g0027 a0002c0003t0003g0067 a0002c0003t0012g0275 |
3 | 320 | 0.0094 | 52 | c.197 others(71): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50156437 | T | TATATATG others(45): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0064 | 1 | 320 | 0.0031 | 52 | c.197 others(71): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CES1_chr16_55797851_55838096 | 55830773 | A | AGAAGGAA others(45): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0008 | a0008c0007 | a0008c0007t0001 | a0008c0007t0001g0062 | 1 | 87 | 0.0115 | 52 | c.53- others(67): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
CES1_chr16_55797851_55838096 | 55830781 | G | GGAAGGAA others(45): Show |
intron_variant | MODIFIER | NA18953.hp1 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0025 |
2 | 87 | 0.0230 | 52 | c.53- others(67): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
CFAP20_chr16_58108592_58134381 | 58129772 | G | GCGGACGC others(45): Show |
upstream_gene_variant | MODIFIER | NA18939.hp1 NA19058.hp1 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0026 a0001c0001t0002g0176 a0001c0001t0006g0036 |
3 | 400 | 0.0075 | 52 | c.-65 others(61): Show |
CFAP20 | ENSG00000070761.8 | transcript | ENST00000262498.8 | protein_coding | 392 | chr16 | TogoVar | |||||||
CFAP251_chr12_121913592_122008919 | 121928674 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02083.hp2 NA18950.hp2 |
a0001 | a0001c0004a0001c0008 | a0001c0004t0001a0001c0008t0001 | a0001c0004t0001g0302 a0001c0008t0001g0280 a0001c0008t0001g0311 |
3 | 354 | 0.0085 | 52 | c.748 others(69): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80929351 | A | ACACCACT others(45): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02647.hp2 HG02886.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(1): Show | a0001c0001t0001g0048 a0002c0002t0001g0020 a0002c0002t0001g0026 others(7): Show |
10 | 96 | 0.1042 | 52 | c.477 others(71): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP410_chr21_44323944_44344390 | 44335931 | A | ACTCAGCC others(45): Show |
intron_variant | MODIFIER | NA18950.hp1 NA18962.hp1 NA18985.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0020a0003c0004t0002 | a0001c0001t0001g0172 a0001c0001t0020g0136 a0003c0004t0002g0245 others(2): Show |
5 | 436 | 0.0115 | 52 | c.97- others(65): Show |
CFAP410 | ENSG00000160226.16 | transcript | ENST00000339818.9 | protein_coding | 2/6 | chr21 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132887939 | T | TCTCTCCT others(45): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03195.hp2 |
a0023a0045 | a0023c0105a0045c0113 | a0023c0105t0002a0045c0113t0002 | a0023c0105t0002g0017 a0045c0113t0002g0103 |
2 | 246 | 0.0081 | 52 | c.330 others(71): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132888903 | C | CACCTGCA others(45): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0144 | 1 | 246 | 0.0041 | 52 | c.330 others(71): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132931579 | C | CCACACAG others(45): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02486.hp2 HG03017.hp1 others(1): Show |
a0021a0054a0057 | a0021c0033a0054c0111a0057c0110 | a0021c0033t0001a0021c0033t0004a0054c0111t0001others(1): Show | a0021c0033t0001g0238 a0021c0033t0004g0237 a0054c0111t0001g0239 others(1): Show |
4 | 246 | 0.0163 | 52 | c.867 others(69): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 8/57 | chr10 | TogoVar | |||||||
CFAP47_chrX_35914734_36390317 | 35923944 | C | CATATATG others(45): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0017 | a0017c0016 | a0017c0016t0001 | a0017c0016t0001g0200 | 1 | 216 | 0.0046 | 52 | c.250 others(69): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36371920 | A | ATACACAC others(45): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02647.hp1 HG02717.hp1 others(3): Show |
a0005a0015a0017 | a0005c0005a0015c0063a0017c0016 | a0005c0005t0001a0015c0063t0001a0017c0016t0001 | a0005c0005t0001g0006 a0005c0005t0001g0008 a0005c0005t0001g0009 others(3): Show |
6 | 216 | 0.0278 | 52 | c.918 others(71): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 62/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1923511 | A | AAGTGGAG others(45): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0024 | a0024c0050 | a0024c0050t0009 | a0024c0050t0009g0271 | 1 | 278 | 0.0036 | 52 | c.439 others(67): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 35/38 | chr1 | TogoVar | |||||||
CFAP97D2_chr13_114174257_114228085 | 114197735 | T | TCCAGTGA others(45): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG02622.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0001g0068 others(5): Show |
8 | 400 | 0.0200 | 52 | c.171 others(69): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CFD_chr19_854664_868641 | 866923 | G | GCCAGCGC others(45): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 287 | 0.0035 | 52 | c.*36 others(63): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 3283 | chr19 | TogoVar | |||||||
CGREF1_chr2_27095594_27124128 | 27116871 | T | TTCTCTCT others(45): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 352 | 0.0028 | 52 | c.-12 others(69): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
CHD9_chr16_53049991_53332497 | 53146419 | G | GTATGTAT others(45): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 238 | 0.0042 | 52 | c.-16 others(71): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |