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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CBX1_chr17_48065059_48106478 | 48105324 | C | CTTTTTTT others(17): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0007 | 1 | 49 | 0.0204 | 24 | c.-41 others(35): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 3847 | chr17 | TogoVar | |||||||
CBX5_chr12_54225942_54285122 | 54229272 | T | TAAAAAAA others(17): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0085 | 1 | 122 | 0.0082 | 24 | c.*12 others(37): Show |
CBX5 | ENSG00000094916.16 | transcript | ENST00000209875.9 | protein_coding | 1669 | chr12 | TogoVar | |||||||
CBX7_chr22_39125772_39157680 | 39145718 | A | AGGGGGCG others(17): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0052 | 1 | 364 | 0.0027 | 24 | c.113 others(41): Show |
CBX7 | ENSG00000100307.13 | transcript | ENST00000216133.10 | protein_coding | 2/5 | chr22 | TogoVar | |||||||
CC2D2B_chr10_95902975_96038745 | 95926838 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0025 | a0025c0037 | a0025c0037t0001 | a0025c0037t0001g0022 | 1 | 310 | 0.0032 | 24 | c.241 others(39): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 5/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 95926840 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00741.hp2 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0002c0002others(4): Show | a0001c0001t0001a0001c0007t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0023 others(14): Show |
18 | 287 | 0.0627 | 24 | c.241 others(39): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 5/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 96025164 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0175 | 1 | 308 | 0.0032 | 24 | c.394 others(41): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 33/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CCAR1_chr10_68716239_68797377 | 68753094 | T | TTAGTTGT others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(282): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(20): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(276): Show |
285 | 358 | 0.7961 | 24 | c.111 others(41): Show |
CCAR1 | ENSG00000060339.14 | transcript | ENST00000265872.11 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CCBE1_chr18_59425939_59702423 | 59508711 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0211 | 1 | 120 | 0.0083 | 24 | c.213 others(43): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCDC102B_chr18_68793080_69060189 | 68834432 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 a0001c0001t0001g0151 |
2 | 17 | 0.1176 | 24 | c.-15 others(41): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CCDC102B_chr18_68793080_69060189 | 69009924 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0042 | 1 | 14 | 0.0714 | 24 | c.126 others(42): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CCDC102B_chr18_68793080_69060189 | 69014978 | A | AGAGTGTG others(17): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0182 | 1 | 56 | 0.0179 | 24 | c.143 others(43): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CCDC102B_chr18_68793080_69060189 | 69056636 | A | AATAGATA others(17): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG02109.hp2 HG02280.hp2 others(3): Show |
a0001a0002a0020 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0175 a0001c0001t0001g0201 a0001c0003t0001g0128 others(3): Show |
6 | 87 | 0.0690 | 24 | c.*24 others(35): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 1448 | chr18 | TogoVar | |||||||
CCDC102B_chr18_68793080_69060189 | 69056636 | A | AATAGATA others(17): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0016 | 1 | 82 | 0.0122 | 24 | c.*24 others(35): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 1448 | chr18 | TogoVar | |||||||
CCDC105_chr19_15005726_15028276 | 15018715 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02165.hp2 HG03540.hp1 others(12): Show |
a0002a0006a0008others(2): Show | a0002c0002a0002c0011a0002c0029others(4): Show | a0002c0002t0001a0002c0011t0001a0002c0029t0001others(4): Show | a0002c0002t0001g0001 a0002c0002t0001g0012 a0002c0002t0001g0034 others(11): Show |
15 | 263 | 0.0570 | 24 | c.676 others(41): Show |
CCDC105 | ENSG00000160994.4 | transcript | ENST00000292574.4 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CCDC105_chr19_15005726_15028276 | 15018732 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01168.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0273 a0003c0003t0001g0291 |
2 | 297 | 0.0067 | 24 | c.676 others(41): Show |
CCDC105 | ENSG00000160994.4 | transcript | ENST00000292574.4 | protein_coding | 2/6 | chr19 | TogoVar | |||||||
CCDC110_chr4_185440182_185476733 | 185443320 | G | GTATATAT others(17): Show |
downstream_gene_variant | MODIFIER | HG03225.hp1 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0289 | 1 | 396 | 0.0025 | 24 | c.*21 others(35): Show |
CCDC110 | ENSG00000168491.10 | transcript | ENST00000307588.8 | protein_coding | 1861 | chr4 | TogoVar | |||||||
CCDC113_chr16_58244936_58288836 | 58262787 | A | ATAGATAG others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0014 others(34): Show |
52 | 259 | 0.2008 | 24 | c.783 others(39): Show |
CCDC113 | ENSG00000103021.10 | transcript | ENST00000219299.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CCDC120_chrX_49053999_49074854 | 49060427 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 19 | 0.0526 | 24 | c.-84 others(41): Show |
CCDC120 | ENSG00000147144.13 | transcript | ENST00000603986.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CCDC122_chr13_43831352_43884740 | 43879740 | T | TGAGGTGA others(17): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 HG03490.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0050 |
3 | 440 | 0.0068 | 24 | c.-33 others(33): Show |
CCDC122 | ENSG00000151773.13 | transcript | ENST00000444614.8 | protein_coding | 1 | chr13 | TogoVar | |||||||
CCDC125_chr5_69275175_69337801 | 69334793 | G | GGAGAGAG others(17): Show |
upstream_gene_variant | MODIFIER | HG02071.hp1 HG02074.hp2 HG02132.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(1): Show | a0001c0001t0001g0014 a0001c0001t0006g0038 a0002c0002t0001g0050 others(4): Show |
7 | 152 | 0.0461 | 24 | c.-21 others(35): Show |
CCDC125 | ENSG00000183323.13 | transcript | ENST00000396496.7 | protein_coding | 1993 | chr5 | TogoVar | |||||||
CCDC12_chr3_46916730_46981745 | 46951798 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0330 | 1 | 43 | 0.0233 | 24 | c.97- others(41): Show |
CCDC12 | ENSG00000160799.12 | transcript | ENST00000683445.1 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CCDC12_chr3_46916730_46981745 | 46951798 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG03688.hp2 NA18612.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0145 a0001c0001t0001g0329 a0001c0001t0002g0194 |
3 | 45 | 0.0667 | 24 | c.97- others(41): Show |
CCDC12 | ENSG00000160799.12 | transcript | ENST00000683445.1 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CCDC12_chr3_46916730_46981745 | 46951798 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01081.hp2 HG01192.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0113 a0001c0001t0001g0146 a0001c0001t0001g0147 others(3): Show |
6 | 48 | 0.1250 | 24 | c.97- others(41): Show |
CCDC12 | ENSG00000160799.12 | transcript | ENST00000683445.1 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CCDC12_chr3_46916730_46981745 | 46951798 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01070.hp1 HG03041.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 a0001c0001t0001g0135 a0001c0001t0001g0336 |
3 | 45 | 0.0667 | 24 | c.97- others(41): Show |
CCDC12 | ENSG00000160799.12 | transcript | ENST00000683445.1 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CCDC12_chr3_46916730_46981745 | 46951798 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 a0001c0001t0001g0136 |
2 | 44 | 0.0455 | 24 | c.97- others(41): Show |
CCDC12 | ENSG00000160799.12 | transcript | ENST00000683445.1 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CCDC134_chr22_41795679_41837164 | 41819963 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02129.hp2 HG03579.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0009 | a0001c0001t0002g0161 a0001c0001t0002g0183 a0001c0001t0002g0184 others(3): Show |
6 | 159 | 0.0377 | 24 | c.565 others(41): Show |
CCDC134 | ENSG00000100147.14 | transcript | ENST00000255784.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CCDC137_chr17_81661737_81678899 | 81677326 | T | TCCTACCT others(17): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 HG03516.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0018 | a0001c0001t0003g0021 a0001c0001t0003g0035 a0001c0001t0018g0021 |
3 | 410 | 0.0073 | 24 | c.*46 others(35): Show |
CCDC137 | ENSG00000185298.13 | transcript | ENST00000329214.13 | protein_coding | 3428 | chr17 | TogoVar | |||||||
CCDC138_chr2_108781771_108881578 | 108831700 | T | TCTTCCTT others(17): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01261.hp1 HG02523.hp1 others(23): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0005a0001c0006others(5): Show | a0001c0004t0001a0001c0005t0001a0001c0006t0001others(5): Show | a0001c0004t0001g0011 a0001c0004t0001g0012 a0001c0004t0001g0015 others(23): Show |
26 | 39 | 0.6667 | 24 | c.120 others(43): Show |
CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CCDC13_chr3_42700756_42778253 | 42711246 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0008 | a0001c0008t0016 | a0001c0008t0016g0068 | 1 | 118 | 0.0085 | 24 | c.187 others(43): Show |
CCDC13 | ENSG00000244607.7 | transcript | ENST00000310232.11 | protein_coding | 14/15 | chr3 | TogoVar | |||||||
CCDC13_chr3_42700756_42778253 | 42743587 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG02132.hp2 HG03688.hp1 NA18612.hp1 others(11): Show |
a0003a0005 | a0003c0003a0005c0007 | a0003c0003t0003a0003c0003t0006a0005c0007t0003others(1): Show | a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0058 others(7): Show |
14 | 277 | 0.0505 | 24 | c.826 others(39): Show |
CCDC13 | ENSG00000244607.7 | transcript | ENST00000310232.11 | protein_coding | 7/15 | chr3 | TogoVar | |||||||
CCDC141_chr2_178824757_179055137 | 178870231 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01928.hp1 HG01981.hp1 others(3): Show |
a0001a0002a0023 | a0001c0016a0002c0006a0023c0042 | a0001c0016t0006a0002c0006t0006a0002c0006t0077others(1): Show | a0001c0016t0006g0181 a0002c0006t0006g0252 a0002c0006t0006g0261 others(3): Show |
6 | 55 | 0.1091 | 24 | c.220 others(41): Show |
CCDC141 | ENSG00000163492.16 | transcript | ENST00000443758.7 | protein_coding | 14/23 | chr2 | TogoVar | |||||||
CCDC141_chr2_178824757_179055137 | 178981636 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00735.hp1 others(26): Show |
a0001a0002a0003others(5): Show | a0001c0002a0002c0003a0002c0010others(8): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(16): Show | a0001c0002t0001g0103 a0001c0002t0002g0124 a0001c0002t0002g0165 others(26): Show |
29 | 102 | 0.2843 | 24 | c.226 others(41): Show |
CCDC141 | ENSG00000163492.16 | transcript | ENST00000443758.7 | protein_coding | 2/23 | chr2 | TogoVar | |||||||
CCDC141_chr2_178824757_179055137 | 178981655 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0011 | a0001c0011t0027 | a0001c0011t0027g0040 | 1 | 270 | 0.0037 | 24 | c.226 others(41): Show |
CCDC141 | ENSG00000163492.16 | transcript | ENST00000443758.7 | protein_coding | 2/23 | chr2 | TogoVar | |||||||
CCDC144A_chr17_16685241_16782881 | 16718832 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01433.hp2 HG01993.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0280 a0001c0004t0005g0284 a0001c0004t0005g0285 others(1): Show |
4 | 223 | 0.0179 | 24 | c.171 others(43): Show |
CCDC144A | ENSG00000170160.19 | transcript | ENST00000399273.5 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CCDC144A_chr17_16685241_16782881 | 16729963 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG02145.hp2 others(13): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(1): Show | a0002c0002t0002g0184 a0002c0002t0002g0188 a0002c0002t0002g0192 others(13): Show |
16 | 117 | 0.1368 | 24 | c.210 others(43): Show |
CCDC144A | ENSG00000170160.19 | transcript | ENST00000399273.5 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CCDC146_chr7_77117615_77300204 | 77236068 | C | CATAAATA others(17): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 136 | 0.0074 | 24 | c.157 others(39): Show |
CCDC146 | ENSG00000135205.15 | transcript | ENST00000285871.5 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CCDC146_chr7_77117615_77300204 | 77295947 | A | ATGTGTGT others(17): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG01099.hp1 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0002a0001c0004t0002a0001c0005t0002others(6): Show | a0001c0001t0002g0028 a0001c0001t0002g0033 a0001c0001t0002g0048 others(20): Show |
23 | 143 | 0.1608 | 24 | c.*10 others(35): Show |
CCDC146 | ENSG00000135205.15 | transcript | ENST00000285871.5 | protein_coding | 744 | chr7 | TogoVar | |||||||
CCDC148_chr2_158166073_158461753 | 158387288 | T | TTATCTAT others(17): Show |
intron_variant | MODIFIER | HG03195.hp1 NA19240.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0003g0068 |
3 | 36 | 0.0833 | 24 | c.26- others(41): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
CCDC148_chr2_158166073_158461753 | 158406614 | T | TTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00639.hp2 NA18979.hp2 NA19075.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 a0001c0001t0002g0242 a0001c0001t0002g0243 |
3 | 262 | 0.0115 | 24 | c.26- others(41): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
CCDC148_chr2_158166073_158461753 | 158433087 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 221 | 0.0045 | 24 | c.25+ others(41): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
CCDC149_chr4_24798514_24918042 | 24813489 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0023 | 1 | 35 | 0.0286 | 24 | c.117 others(43): Show |
CCDC149 | ENSG00000181982.20 | transcript | ENST00000635206.3 | protein_coding | 12/12 | chr4 | TogoVar | |||||||
CCDC149_chr4_24798514_24918042 | 24813489 | A | AATATATC others(17): Show |
intron_variant | MODIFIER | HG02622.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0017a0001c0003t0017 | a0001c0001t0017g0053 a0001c0003t0017g0254 |
2 | 36 | 0.0556 | 24 | c.117 others(43): Show |
CCDC149 | ENSG00000181982.20 | transcript | ENST00000635206.3 | protein_coding | 12/12 | chr4 | TogoVar | |||||||
CCDC14_chr3_123908422_123966229 | 123926557 | T | TAAATATT others(17): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG01515.hp1 others(14): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0004a0001c0003t0005 | a0001c0001t0001g0232 a0001c0003t0004g0008 a0001c0003t0004g0015 others(9): Show |
17 | 363 | 0.0468 | 24 | c.177 others(43): Show |
CCDC14 | ENSG00000175455.16 | transcript | ENST00000409697.8 | protein_coding | 12/12 | chr3 | TogoVar | |||||||
CCDC152_chr5_42751818_42807439 | 42755285 | G | GTGTATAT others(17): Show |
upstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0092 | 1 | 136 | 0.0074 | 24 | c.-16 others(35): Show |
CCDC152 | ENSG00000198865.10 | transcript | ENST00000361970.10 | protein_coding | 1532 | chr5 | TogoVar | |||||||
CCDC157_chr22_30352007_30383673 | 30376487 | C | CCAGCCCT others(17): Show |
conservative_inframe_insertion | MODERATE | HG01175.hp2 HG02055.hp2 HG02451.hp1 others(2): Show |
a0007a0011a0015 | a0007c0010a0011c0023a0015c0021 | a0007c0010t0004a0011c0023t0003a0015c0021t0001 | a0007c0010t0004g0003 a0011c0023t0003g0192 a0015c0021t0001g0204 |
5 | 431 | 0.0116 | 24 | c.206 others(33): Show |
p.Pro others(13): Show |
CCDC157 | ENSG00000187860.11 | transcript | ENST00000338306.8 | protein_coding | 12/12 | 2383/4478 | 2092/2259 | 698/752 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
CCDC169_chr13_36225775_36302814 | 36285603 | A | ATAGATAG others(17): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01167.hp2 HG01169.hp2 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0040 a0002c0003t0002g0041 a0002c0003t0002g0042 others(2): Show |
5 | 341 | 0.0147 | 24 | c.164 others(41): Show |
CCDC169 | ENSG00000242715.8 | transcript | ENST00000239859.8 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
CCDC169_chr13_36225775_36302814 | 36285614 | G | GATAGATA others(17): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 256 | 0.0039 | 24 | c.164 others(41): Show |
CCDC169 | ENSG00000242715.8 | transcript | ENST00000239859.8 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
CCDC169_chr13_36225775_36302814 | 36285614 | G | GATAGATA others(17): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 256 | 0.0039 | 24 | c.164 others(41): Show |
CCDC169 | ENSG00000242715.8 | transcript | ENST00000239859.8 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
CCDC169_chr13_36225775_36302814 | 36285614 | G | GATAGATA others(17): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0228 | 1 | 256 | 0.0039 | 24 | c.164 others(41): Show |
CCDC169 | ENSG00000242715.8 | transcript | ENST00000239859.8 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
CCDC170_chr6_151489017_151626193 | 151572649 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0160 | 1 | 200 | 0.0050 | 24 | c.775 others(39): Show |
CCDC170 | ENSG00000120262.10 | transcript | ENST00000239374.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |