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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDH1_chr16_68732292_68840537 | 68745584 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0195 | 1 | 196 | 0.0051 | 46 | c.163 others(63): Show |
CDH1 | ENSG00000039068.20 | transcript | ENST00000261769.10 | protein_coding | 2/15 | chr16 | TogoVar | |||||||
CDH22_chr20_46168739_46313498 | 46181752 | C | CTTCCTTC others(39): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 66 | 0.0152 | 46 | c.166 others(65): Show |
CDH22 | ENSG00000149654.11 | transcript | ENST00000537909.4 | protein_coding | 10/11 | chr20 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61565241 | G | GGCGGTGC others(39): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0004 | a0002c0004t0012 | a0002c0004t0012g0016 | 1 | 65 | 0.0154 | 46 | c.170 others(67): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61647536 | T | TCTCTCTC others(39): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01081.hp1 HG02809.hp1 |
a0001 | a0001c0003a0001c0006a0001c0022 | a0001c0003t0029a0001c0006t0045a0001c0022t0010 | a0001c0003t0029g0040 a0001c0006t0045g0070 a0001c0022t0010g0071 |
3 | 88 | 0.0341 | 46 | c.170 others(65): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61854593 | C | CTTGGTCC others(39): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0021a0002c0002others(3): Show | a0001c0001t0013a0001c0021t0005a0002c0002t0011others(4): Show | a0001c0001t0013g0106 a0001c0021t0005g0047 a0002c0002t0011g0082 others(4): Show |
7 | 106 | 0.0660 | 46 | c.877 others(63): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH7_chr18_65746012_65895337 | 65844174 | G | GATTTATA others(39): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0092 | 1 | 18 | 0.0556 | 46 | c.123 others(63): Show |
CDH7 | ENSG00000081138.14 | transcript | ENST00000397968.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CDH7_chr18_65746012_65895337 | 65844174 | G | GATTTTTA others(39): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0004 | 1 | 18 | 0.0556 | 46 | c.123 others(63): Show |
CDH7 | ENSG00000081138.14 | transcript | ENST00000397968.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CDIN1_chr15_36574626_36815244 | 36703219 | A | AATATATA others(39): Show |
intron_variant | MODIFIER | HG01192.hp2 HG03239.hp2 NA18969.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0009g0030 |
3 | 69 | 0.0435 | 46 | c.544 others(63): Show |
CDIN1 | ENSG00000186073.14 | transcript | ENST00000566621.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CDK18_chr1_205499669_205537790 | 205532937 | G | GTGTATGT others(39): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0046 | 1 | 32 | 0.0313 | 46 | c.*15 others(57): Show |
CDK18 | ENSG00000117266.16 | transcript | ENST00000429964.7 | protein_coding | 148 | chr1 | TogoVar | |||||||
CDK18_chr1_205499669_205537790 | 205532937 | G | GTGTGTGT others(39): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 32 | 0.0313 | 46 | c.*15 others(57): Show |
CDK18 | ENSG00000117266.16 | transcript | ENST00000429964.7 | protein_coding | 148 | chr1 | TogoVar | |||||||
CDK19_chr6_110604978_110820469 | 110607056 | C | CCTCCAGG others(39): Show |
downstream_gene_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0017 | 1 | 298 | 0.0034 | 46 | c.*74 others(57): Show |
CDK19 | ENSG00000155111.15 | transcript | ENST00000368911.8 | protein_coding | 2921 | chr6 | TogoVar | |||||||
CDK5_chr7_151048815_151062897 | 151062210 | A | ATACCCCC others(39): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 414 | 0.0024 | 46 | c.-43 others(57): Show |
CDK5 | ENSG00000164885.13 | transcript | ENST00000485972.6 | protein_coding | 4314 | chr7 | TogoVar | |||||||
CDKAL1_chr6_20529457_21237404 | 20799040 | G | GTTTTTTT others(39): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0097 | 1 | 23 | 0.0435 | 46 | c.638 others(65): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKN2A_chr9_21962752_21999392 | 21981008 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01069.hp1 HG01071.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 a0001c0001t0003g0056 a0001c0001t0003g0061 others(1): Show |
5 | 132 | 0.0379 | 46 | c.194 others(63): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CDYL2_chr16_80592907_80809598 | 80806937 | A | ACCATATT others(39): Show |
upstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 256 | 0.0039 | 46 | c.-27 others(57): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 2340 | chr16 | TogoVar | |||||||
CEACAM1_chr19_42502306_42533481 | 42513915 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0167 | 1 | 254 | 0.0039 | 46 | c.124 others(65): Show |
CEACAM1 | ENSG00000079385.23 | transcript | ENST00000161559.11 | protein_coding | 5/8 | chr19 | TogoVar | |||||||
CEACAM20_chr19_44501159_44534675 | 44518104 | A | AAGAAAGA others(39): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0003 | a0003c0012 | a0003c0012t0001 | a0003c0012t0001g0070 | 1 | 436 | 0.0023 | 46 | c.103 others(63): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 5/11 | chr19 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46509528 | G | GAGGGGCT others(39): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(57): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0002a0001c0006others(31): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0014others(35): Show | a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0041 others(57): Show |
60 | 102 | 0.5882 | 46 | c.354 others(67): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71728267 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0305 | 1 | 285 | 0.0035 | 46 | c.204 others(65): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 10/23 | chr9 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71728287 | A | ACACGTAT others(39): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02970.hp1 HG03516.hp2 others(1): Show |
a0001a0006a0016 | a0001c0001a0006c0006a0016c0031 | a0001c0001t0020a0006c0006t0004a0006c0006t0007others(1): Show | a0001c0001t0020g0312 a0006c0006t0004g0296 a0006c0006t0007g0255 others(1): Show |
4 | 284 | 0.0141 | 46 | c.204 others(65): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 10/23 | chr9 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71728289 | A | ACGTATAT others(39): Show |
intron_variant | MODIFIER | NA18981.hp2 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 a0001c0001t0001g0114 |
2 | 283 | 0.0071 | 46 | c.204 others(65): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 10/23 | chr9 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24881982 | A | ATATATAG others(39): Show |
downstream_gene_variant | MODIFIER | NA20805.hp1 | a0004 | a0004c0006 | a0004c0006t0013 | a0004c0006t0013g0093 | 1 | 423 | 0.0024 | 46 | c.*11 others(57): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 296 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24882088 | A | ATATATAG others(39): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG01074.hp2 HG02257.hp2 others(1): Show |
a0005 | a0005c0008 | a0005c0008t0006 | a0005c0008t0006g0015 a0005c0008t0006g0081 a0005c0008t0006g0083 |
4 | 435 | 0.0092 | 46 | c.*10 others(57): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 190 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24882089 | T | TATAGATA others(39): Show |
downstream_gene_variant | MODIFIER | HG02004.hp2 NA18986.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0007 | a0001c0002t0001g0251 a0001c0002t0007g0234 |
2 | 191 | 0.0105 | 46 | c.*10 others(57): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 189 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24882133 | G | GATATATA others(39): Show |
downstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0011 | 1 | 66 | 0.0152 | 46 | c.*10 others(57): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 145 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24882169 | G | GATATATA others(39): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0198 | 1 | 80 | 0.0125 | 46 | c.*10 others(57): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 109 | chr13 | TogoVar | |||||||
CENPP_chr9_92320953_92625529 | 92352505 | G | GTGTGTGT others(39): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0013 | 1 | 132 | 0.0076 | 46 | c.467 others(63): 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(39): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 | 1 | 58 | 0.0172 | 46 | c.565 others(65): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92567373 | G | GATATATA others(39): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118 | 1 | 58 | 0.0172 | 46 | c.565 others(65): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CEP20_chr16_15860719_15893603 | 15888779 | T | TCGGAAGG others(39): Show |
upstream_gene_variant | MODIFIER | NA18945.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0008 | 1 | 432 | 0.0023 | 46 | c.-19 others(55): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 177 | chr16 | TogoVar | |||||||
CEP295NL_chr17_78885579_78908201 | 78904091 | A | ATGTGTGT others(39): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0045 | 1 | 248 | 0.0040 | 46 | c.-10 others(57): Show |
CEP295NL | ENSG00000178404.11 | transcript | ENST00000322630.3 | protein_coding | 891 | chr17 | TogoVar | |||||||
CERCAM_chr9_128415857_128442347 | 128437914 | C | CACACACG others(39): Show |
downstream_gene_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 398 | 0.0025 | 46 | c.*10 others(57): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 568 | chr9 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100466808 | C | CCTCTCCC others(39): Show |
intron_variant | MODIFIER | HG03688.hp1 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0242 a0001c0001t0002g0281 |
2 | 347 | 0.0058 | 46 | c.845 others(63): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100466809 | C | CTCTCCCT others(39): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01192.hp2 HG02300.hp1 others(10): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0007t0002 | a0001c0001t0001g0278 a0001c0001t0002g0018 a0001c0001t0002g0020 others(10): Show |
13 | 355 | 0.0366 | 46 | c.845 others(63): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50156420 | C | CTATATAT others(39): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01993.hp2 HG02809.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0001c0001t0007a0002c0003t0003 | a0001c0001t0004g0099 a0001c0001t0007g0142 a0002c0003t0003g0043 others(1): Show |
4 | 144 | 0.0278 | 46 | c.197 others(65): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50156437 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02280.hp1 NA18953.hp1 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0017 | a0002c0003t0003g0025 a0002c0003t0003g0056 a0002c0003t0003g0062 others(3): Show |
6 | 279 | 0.0215 | 46 | c.197 others(65): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168559733 | T | TTATATAT others(39): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02647.hp2 NA18977.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0011 | a0001c0001t0002g0141 a0001c0001t0009g0041 a0001c0001t0011g0081 |
3 | 27 | 0.1111 | 46 | c.277 others(63): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 2/9 | chr2 | TogoVar | |||||||
CFAP276_chr1_109100951_109117747 | 109113411 | A | AGAGAGAG others(39): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG03130.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0007 | 2 | 402 | 0.0050 | 46 | c.-73 others(55): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 665 | chr1 | TogoVar | |||||||
CFAP299_chr4_80330730_80968750 | 80800167 | A | ATATATAA others(39): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01168.hp1 HG02523.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0039 others(3): Show |
6 | 76 | 0.0789 | 46 | c.334 others(65): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35923874 | T | TATATATG others(39): Show |
intron_variant | MODIFIER | HG02809.hp2 NA18522.hp1 |
a0007a0010 | a0007c0073a0010c0072 | a0007c0073t0001a0010c0072t0001 | a0007c0073t0001g0139 a0010c0072t0001g0140 |
2 | 202 | 0.0099 | 46 | c.250 others(63): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9631028 | A | AAGAAAGA others(39): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0133 | 1 | 169 | 0.0059 | 46 | c.117 others(65): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20269164 | C | CATATGTA others(39): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 124 | 0.0081 | 46 | c.250 others(65): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20354913 | G | GGGAGGTA others(39): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0021 | 1 | 26 | 0.0385 | 46 | c.351 others(65): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20354913 | G | GGGAGGTG others(39): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(205): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0003a0001c0006others(40): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(65): Show | a0001c0001t0001g0028 a0001c0001t0001g0040 a0001c0001t0001g0078 others(205): Show |
208 | 233 | 0.8927 | 46 | c.351 others(65): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20356842 | T | TGTGAGTG others(39): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02622.hp1 HG02630.hp1 others(1): Show |
a0001a0002a0009 | a0001c0012a0002c0022a0009c0014 | a0001c0012t0002a0002c0022t0002a0009c0014t0006 | a0001c0012t0002g0098 a0001c0012t0002g0172 a0002c0022t0002g0049 others(1): Show |
4 | 109 | 0.0367 | 46 | c.351 others(65): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1958721 | G | GGGACGAT others(39): Show |
intron_variant | MODIFIER | HG02258.hp2 NA19030.hp1 |
a0005a0044 | a0005c0044a0044c0092 | a0005c0044t0001a0044c0092t0001 | a0005c0044t0001g0066 a0044c0092t0001g0037 |
2 | 276 | 0.0072 | 46 | c.185 others(63): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 16/38 | chr1 | TogoVar | |||||||
CFH_chr1_196647043_196752504 | 196692754 | C | CCCTTCCT others(39): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02698.hp1 HG02895.hp2 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0008 a0001c0001t0001g0239 a0001c0001t0001g0240 others(4): Show |
7 | 306 | 0.0229 | 46 | c.133 others(65): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | chr1 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109783811 | T | TAATATAT others(39): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0099 | 1 | 298 | 0.0034 | 46 | c.58- others(63): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109783812 | G | GATATATA others(39): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01106.hp1 HG01106.hp2 others(9): Show |
a0001a0006a0009 | a0001c0002a0006c0014a0009c0010 | a0001c0002t0001a0006c0014t0001a0009c0010t0001 | a0001c0002t0001g0035 a0001c0002t0001g0045 a0001c0002t0001g0057 others(9): Show |
12 | 165 | 0.0727 | 46 | c.58- others(63): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
CFTR_chr7_117475025_117673665 | 117612013 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0015 | a0015c0018 | a0015c0018t0005 | a0015c0018t0005g0028 | 1 | 196 | 0.0051 | 46 | c.336 others(63): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |