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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CADM2_chr3_84953989_86079429 | 85855602 | CATATATA others(20): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00621.hp2 others(59): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0031others(59): Show | 62 | 146 | 0.4247 | -27 | c.239 others(46): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CALCOCO1_chr12_53703517_53732452 | 53729376 | TATGTAAT others(20): Show |
T | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02559.hp2 HG02723.hp2 others(3): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0002a0001c0001t0038a0001c0001t0070others(1): Show | a0001c0001t0002g0251a0001c0001t0002g0252a0001c0001t0038g0158others(3): Show | 6 | 428 | 0.0140 | -27 | c.-20 others(38): Show |
CALCOCO1 | ENSG00000012822.16 | transcript | ENST00000550804.6 | protein_coding | 1925 | chr12 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48858019 | GAATAGAA others(20): Show |
G | intron_variant | MODIFIER | NA19030.hp1 | a0004 | a0004c0004 | a0004c0004t0010 | a0004c0004t0010g0097 | 1 | 328 | 0.0031 | -27 | c.100 others(46): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CALN1_chr7_71774491_72417338 | 71922610 | CACAGAAT others(20): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG03225.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0041a0001c0001t0053 | a0001c0001t0022g0001a0001c0001t0041g0069a0001c0001t0053g0135 | 3 | 142 | 0.0211 | -27 | c.501 others(48): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 5/6 | chr7 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72203979 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0002 | 1 | 142 | 0.0070 | -27 | c.244 others(46): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | ||||||
CALR3_chr19_16474061_16501167 | 16494830 | GGTTAAAT others(20): Show |
G | intron_variant | MODIFIER | NA18940.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0043 | 1 | 370 | 0.0027 | -27 | c.193 others(42): Show |
CALR3 | ENSG00000269058.6 | transcript | ENST00000269881.8 | protein_coding | 2/8 | chr19 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12691376 | TAAATATA others(20): Show |
T | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0057 | a0001c0002t0057g0005 | 1 | 214 | 0.0047 | -27 | c.299 others(46): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12827445 | TTCTTTCT others(20): Show |
T | intron_variant | MODIFIER | HG01071.hp2 HG01884.hp1 HG02486.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0028a0001c0001t0032others(6): Show | a0001c0001t0002g0041a0001c0001t0028g0203a0001c0001t0032g0042others(7): Show | 10 | 214 | 0.0467 | -27 | c.104 others(46): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 6964321 | CGGAGGGT others(20): Show |
C | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0021 | 1 | 58 | 0.0172 | -27 | c.235 others(48): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7104111 | TGTACACA others(20): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG02257.hp1 others(13): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0002g0036others(13): Show | 16 | 58 | 0.2759 | -27 | c.302 others(46): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7284156 | CTTCTTCT others(20): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 58 | 0.0172 | -27 | c.438 others(46): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7337515 | CTCATCCA others(20): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0013others(3): Show | a0001c0001t0002g0001a0001c0001t0011g0058a0001c0001t0013g0056others(3): Show | 6 | 58 | 0.1035 | -27 | c.438 others(46): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7499620 | GAGTGAGT others(20): Show |
G | intron_variant | MODIFIER | HG02647.hp2 HG03041.hp2 HG03486.hp1 others(3): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0015others(3): Show | a0001c0001t0004g0026a0001c0001t0011g0058a0001c0001t0015g0037others(3): Show | 6 | 58 | 0.1035 | -27 | c.510 others(46): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | chr1 | TogoVar | ||||||
CANT1_chr17_78986716_79014764 | 79004989 | GTTAGGGA others(20): Show |
G | intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 394 | 0.0025 | -27 | c.-14 others(46): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38736008 | AGGTCTCG others(20): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0234 | 1 | 342 | 0.0029 | -27 | c.158 others(43): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN1_chr11_65176928_65217006 | 65207849 | GGTTGCAG others(20): Show |
G | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0110 | 1 | 394 | 0.0025 | -27 | c.160 others(44): Show |
CAPN1 | ENSG00000014216.16 | transcript | ENST00000279247.11 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CAPZB_chr1_19333775_19490539 | 19471865 | CAAAAAAA others(20): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 364 | 0.0028 | -27 | c.3+1 others(42): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41510409 | ATATATAT others(20): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 164 | 0.0061 | -27 | c.*99 others(39): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 4524 | chrX | TogoVar | ||||||
CASP9_chr1_15486401_15529215 | 15521770 | CTGTCTTT others(20): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG02109.hp2 HG02559.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0106a0002c0001t0001g0107a0002c0001t0001g0108 | 3 | 350 | 0.0086 | -27 | c.132 others(44): Show |
CASP9 | ENSG00000132906.18 | transcript | ENST00000333868.10 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96743138 | GAAGATCC others(20): Show |
G | intron_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0126 | 1 | 358 | 0.0028 | -27 | c.120 others(44): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 16/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5751197 | CAAAAAAA others(20): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG03041.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0143a0003c0004t0001g0148a0003c0004t0001g0149others(1): Show | 4 | 336 | 0.0119 | -27 | c.988 others(42): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116555511 | AGAAAGAA others(20): Show |
A | intron_variant | MODIFIER | HG01169.hp2 HG01496.hp1 HG01981.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0060a0001c0001t0001g0096a0001c0001t0001g0126others(7): Show | 10 | 342 | 0.0292 | -27 | c.196 others(44): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116555515 | AGAAAGAG others(20): Show |
A | intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0143 | 1 | 342 | 0.0029 | -27 | c.196 others(44): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | chr7 | TogoVar | ||||||
CAVIN4_chr9_100573079_100593389 | 100583029 | GAAACACA others(20): Show |
G | intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 382 | 0.0026 | -27 | c.409 others(44): Show |
CAVIN4 | ENSG00000170681.7 | transcript | ENST00000307584.6 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88870640 | TGTGCTCC others(20): Show |
T | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01358.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0149a0002c0004t0001g0161 | 2 | 284 | 0.0070 | -27 | c.*63 others(38): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 4217 | chr16 | TogoVar | ||||||
CBX4_chr17_79828156_79844440 | 79831150 | CCTCTAGG others(20): Show |
C | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG01978.hp1 others(52): Show |
a0000a0001a0002 | a0000c0002a0001c0001a0001c0007others(1): Show | a0000c0002t0001a0000c0002t0003a0000c0002t0005others(7): Show | a0000c0002t0001g0035a0000c0002t0001g0042a0000c0002t0003g0094others(15): Show | 55 | 420 | 0.1310 | -27 | c.*27 others(38): Show |
CBX4 | ENSG00000141582.15 | transcript | ENST00000269397.9 | protein_coding | 2005 | chr17 | TogoVar | ||||||
CBX4_chr17_79828156_79844440 | 79831186 | ACAGAGGG others(20): Show |
A | downstream_gene_variant | MODIFIER | NA20300.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0030a0001c0001t0002g0004 | 2 | 420 | 0.0048 | -27 | c.*27 others(38): Show |
CBX4 | ENSG00000141582.15 | transcript | ENST00000269397.9 | protein_coding | 1969 | chr17 | TogoVar | ||||||
CBX6_chr22_38856422_38877216 | 38872226 | TGCGCCCG others(20): Show |
T | upstream_gene_variant | MODIFIER | HG01109.hp1 | a0003 | a0003c0004 | a0003c0004t0046 | a0003c0004t0046g0150 | 1 | 406 | 0.0025 | -27 | c.-63 others(34): Show |
CBX6 | ENSG00000183741.12 | transcript | ENST00000407418.8 | protein_coding | 11 | chr22 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 95993861 | GAGAGAGA others(20): Show |
G | intron_variant | MODIFIER | HG02165.hp1 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0257a0001c0001t0002g0266 | 2 | 312 | 0.0064 | -27 | c.264 others(46): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 22/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CCBE1_chr18_59425939_59702423 | 59658349 | AAAAAAAT others(20): Show |
A | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 242 | 0.0041 | -27 | c.212 others(46): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | ||||||
CCBE1_chr18_59425939_59702423 | 59658355 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0190 | 1 | 242 | 0.0041 | -27 | c.212 others(46): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | ||||||
CCDC112_chr5_115262190_115301654 | 115298253 | CAAAAAAA others(20): Show |
C | upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 388 | 0.0026 | -27 | c.-17 others(38): Show |
CCDC112 | ENSG00000164221.13 | transcript | ENST00000379611.10 | protein_coding | 1600 | chr5 | TogoVar | ||||||
CCDC125_chr5_69275175_69337801 | 69286206 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG01433.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(7): Show | 10 | 341 | 0.0293 | -27 | c.110 others(44): Show |
CCDC125 | ENSG00000183323.13 | transcript | ENST00000396496.7 | protein_coding | 10/11 | chr5 | TogoVar | ||||||
CCDC125_chr5_69275175_69337801 | 69315486 | GTGGCTCA others(20): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(105): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0190a0001c0001t0002g0003a0001c0001t0002g0004others(103): Show | 108 | 341 | 0.3167 | -27 | c.305 others(44): Show |
CCDC125 | ENSG00000183323.13 | transcript | ENST00000396496.7 | protein_coding | 2/11 | chr5 | TogoVar | ||||||
CCDC138_chr2_108781771_108881578 | 108853976 | AATATATA others(20): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00741.hp2 others(121): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0001c0005others(7): Show | a0001c0001t0002a0001c0004t0001a0001c0004t0002others(10): Show | a0001c0001t0002g0001a0001c0001t0002g0003a0001c0001t0002g0004others(120): Show | 124 | 220 | 0.5636 | -27 | c.151 others(46): Show |
CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CCDC141_chr2_178824757_179055137 | 179015091 | TATATATA others(20): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG02486.hp1 NA18939.hp1 |
a0001a0011 | a0001c0001a0001c0002a0011c0030 | a0001c0001t0010a0001c0002t0001a0011c0030t0072 | a0001c0001t0010g0136a0001c0002t0001g0159a0011c0030t0072g0215 | 3 | 274 | 0.0110 | -27 | c.225 others(46): Show |
CCDC141 | ENSG00000163492.16 | transcript | ENST00000443758.7 | protein_coding | 2/23 | chr2 | TogoVar | ||||||
CCDC146_chr7_77117615_77300204 | 77180085 | ATACCATA others(20): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(54): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0006others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0003others(20): Show | a0001c0001t0001g0050a0001c0001t0001g0062a0001c0001t0001g0159others(54): Show | 57 | 248 | 0.2298 | -27 | c.156 others(46): Show |
CCDC146 | ENSG00000135205.15 | transcript | ENST00000285871.5 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CCDC154_chr16_1429383_1449556 | 1440468 | GAAGAGAA others(20): Show |
G | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 416 | 0.0024 | -27 | c.676 others(44): Show |
CCDC154 | ENSG00000197599.13 | transcript | ENST00000389176.4 | protein_coding | 6/16 | chr16 | TogoVar | ||||||
CCDC170_chr6_151489017_151626193 | 151617408 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(96): Show |
a0002a0007a0008others(6): Show | a0002c0002a0002c0003a0002c0015others(12): Show | a0002c0002t0001a0002c0002t0004a0002c0002t0010others(32): Show | a0002c0002t0001g0006a0002c0002t0001g0014a0002c0002t0001g0050others(96): Show | 99 | 320 | 0.3094 | -27 | c.194 others(44): Show |
CCDC170 | ENSG00000120262.10 | transcript | ENST00000239374.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CCDC172_chr10_116319448_116385029 | 116361032 | CTATTATT others(20): Show |
C | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056 | 1 | 338 | 0.0030 | -27 | c.653 others(44): Show |
CCDC172 | ENSG00000182645.6 | transcript | ENST00000333254.4 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CCDC178_chr18_32932406_33445721 | 33011767 | CAAAAAAA others(20): Show |
C | intron_variant | MODIFIER | HG02922.hp1 HG03041.hp1 HG03710.hp2 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0018a0003c0003t0001g0036a0003c0003t0001g0041others(2): Show | 5 | 58 | 0.0862 | -27 | c.238 others(48): Show |
CCDC178 | ENSG00000166960.17 | transcript | ENST00000383096.8 | protein_coding | 21/22 | chr18 | TogoVar | ||||||
CCDC186_chr10_114115862_114179203 | 114138047 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 278 | 0.0036 | -27 | c.122 others(44): Show |
CCDC186 | ENSG00000165813.20 | transcript | ENST00000369287.8 | protein_coding | 6/15 | chr10 | TogoVar | ||||||
CCDC24_chr1_43986599_44001528 | 43988921 | AGCTGACA others(20): Show |
A | upstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 406 | 0.0025 | -27 | c.-28 others(38): Show |
CCDC24 | ENSG00000159214.13 | transcript | ENST00000372318.8 | protein_coding | 2677 | chr1 | TogoVar | ||||||
CCDC38_chr12_95862048_95947614 | 95876420 | AGATGTTA others(20): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0187 | 1 | 350 | 0.0029 | -27 | c.127 others(46): Show |
CCDC38 | ENSG00000165972.13 | transcript | ENST00000344280.8 | protein_coding | 13/15 | chr12 | TogoVar | ||||||
CCDC38_chr12_95862048_95947614 | 95908609 | GGGAGAGG others(20): Show |
G | intron_variant | MODIFIER | HG02818.hp1 | a0008 | a0008c0016 | a0008c0016t0001 | a0008c0016t0001g0213 | 1 | 350 | 0.0029 | -27 | c.305 others(44): Show |
CCDC38 | ENSG00000165972.13 | transcript | ENST00000344280.8 | protein_coding | 4/15 | chr12 | TogoVar | ||||||
CCDC47_chr17_63740255_63778597 | 63759507 | AAATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0218a0001c0001t0003g0222 | 2 | 352 | 0.0057 | -27 | c.735 others(44): Show |
CCDC47 | ENSG00000108588.15 | transcript | ENST00000225726.10 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
CCDC47_chr17_63740255_63778597 | 63759509 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02965.hp1 NA18960.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0075a0001c0001t0003g0217a0001c0001t0003g0220 | 3 | 352 | 0.0085 | -27 | c.735 others(44): Show |
CCDC47 | ENSG00000108588.15 | transcript | ENST00000225726.10 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
CCDC57_chr17_82096470_82217842 | 82163305 | TGCTTGAC others(20): Show |
T | disruptive_inframe_deletion | MODERATE | HG02809.hp1 | a0024 | a0024c0018 | a0024c0018t0003 | a0024c0018t0003g0009 | 1 | 252 | 0.0040 | -27 | c.190 others(36): Show |
p.Gly others(13): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 13/19 | 2000/3362 | 1908/3084 | 636/1027 | chr17 | TogoVar | ||
CCDC57_chr17_82096470_82217842 | 82197046 | TGCAGCCC others(20): Show |
T | intron_variant | MODIFIER | HG02896.hp2 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0180 | 1 | 252 | 0.0040 | -27 | c.516 others(44): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 3/18 | chr17 | TogoVar | ||||||
CCDC57_chr17_82096470_82217842 | 82197160 | CAGACGCA others(20): Show |
C | intron_variant | MODIFIER | HG01099.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0246 | 1 | 252 | 0.0040 | -27 | c.516 others(44): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 3/18 | chr17 | TogoVar |