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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDH4_chr20_61247261_61945617 | 61273360 | T | TATTGGGG others(26): Show |
intron_variant | MODIFIER | HG01255.hp2 HG03579.hp1 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0036a0001c0007t0010 | a0001c0003t0036g0043a0001c0007t0010g0044 | 2 | 106 | 0.0189 | 33 | c.169 others(52): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61283441 | T | TGTGATGT others(26): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02895.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0028a0001c0003t0001 | a0001c0001t0028g0016a0001c0003t0001g0020 | 2 | 106 | 0.0189 | 33 | c.169 others(52): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61565334 | G | GCGGTGCT others(26): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0002 | a0002c0002 | a0002c0002t0039 | a0002c0002t0039g0058 | 1 | 106 | 0.0094 | 33 | c.170 others(54): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61647550 | T | TCTCTCTC others(26): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0003 | a0003c0018 | a0003c0018t0045 | a0003c0018t0045g0052 | 1 | 106 | 0.0094 | 33 | c.170 others(52): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH7_chr18_65746012_65895337 | 65782008 | C | CCTCCTTT others(26): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0024 | a0001c0024t0002 | a0001c0024t0002g0082 | 1 | 208 | 0.0048 | 33 | c.210 others(52): Show |
CDH7 | ENSG00000081138.14 | transcript | ENST00000397968.4 | protein_coding | 2/11 | chr18 | TogoVar | ||||||
CDH9_chr5_26875597_27043586 | 26924518 | A | AATATATA others(26): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 NA18971.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0020a0001c0001t0001g0038others(2): Show | 5 | 240 | 0.0208 | 33 | c.229 others(50): Show |
CDH9 | ENSG00000113100.10 | transcript | ENST00000231021.9 | protein_coding | 2/11 | chr5 | TogoVar | ||||||
CDH9_chr5_26875597_27043586 | 26954388 | C | CTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG00639.hp2 HG06807.hp2 homoSapiens_chm13v2.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0022a0002c0002t0001g0153a0002c0002t0001g0154 | 3 | 240 | 0.0125 | 33 | c.228 others(52): Show |
CDH9 | ENSG00000113100.10 | transcript | ENST00000231021.9 | protein_coding | 2/11 | chr5 | TogoVar | ||||||
CDH9_chr5_26875597_27043586 | 26968701 | T | TTTATTAA others(26): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02895.hp1 HG02896.hp2 |
a0001a0003 | a0001c0001a0001c0007a0003c0003 | a0001c0001t0001a0001c0007t0001a0003c0003t0001 | a0001c0001t0001g0029a0001c0007t0001g0028a0003c0003t0001g0237 | 3 | 240 | 0.0125 | 33 | c.228 others(52): Show |
CDH9 | ENSG00000113100.10 | transcript | ENST00000231021.9 | protein_coding | 2/11 | chr5 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591825 | G | GTGATGGT others(26): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
a0001a0004a0013 | a0001c0006a0004c0039a0013c0022 | a0001c0006t0001a0004c0039t0001a0013c0022t0001 | a0001c0006t0001g0141a0001c0006t0001g0170a0004c0039t0001g0024others(2): Show | 5 | 344 | 0.0145 | 33 | c.373 others(50): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CDK12_chr17_39456486_39539544 | 39476711 | C | CTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0074 | 1 | 260 | 0.0039 | 33 | c.193 others(52): Show |
CDK12 | ENSG00000167258.16 | transcript | ENST00000447079.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CDK15_chr2_201801537_201900550 | 201857232 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00597.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0160a0001c0001t0001g0162a0001c0001t0001g0167others(26): Show | 30 | 322 | 0.0932 | 33 | c.100 others(52): Show |
CDK15 | ENSG00000138395.17 | transcript | ENST00000652192.3 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CDK2AP1_chr12_123255976_123276856 | 123274888 | G | GAAAGAAA others(26): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG03041.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011a0001c0001t0002g0015a0001c0001t0002g0029others(1): Show | 4 | 328 | 0.0122 | 33 | c.-32 others(44): Show |
CDK2AP1 | ENSG00000111328.7 | transcript | ENST00000261692.7 | protein_coding | 3033 | chr12 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 21003343 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0007 | a0002c0007t0038 | a0002c0007t0038g0173 | 1 | 196 | 0.0051 | 33 | c.105 others(52): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 11/15 | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 21075183 | A | AGATATAC others(26): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00639.hp1 others(21): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(13): Show | a0001c0001t0001g0136a0001c0001t0001g0188a0001c0001t0004g0031others(21): Show | 24 | 196 | 0.1225 | 33 | c.123 others(52): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKL2_chr4_75571496_75635528 | 75627980 | A | AATTAAAT others(26): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 306 | 0.0033 | 33 | c.-29 others(50): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 1/13 | chr4 | TogoVar | ||||||
CDKN2A_chr9_21962752_21979857 | 21971575 | A | ATTTTTTT others(26): Show |
intron_variant | MODIFIER | HG04199.hp1 NA18951.hp1 NA18959.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 4 | 416 | 0.0096 | 33 | c.151 others(48): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000304494.10 | protein_coding | 1/2 | chr9 | TogoVar | ||||||
CDKN2A_chr9_21962752_21999392 | 21971575 | A | ATTTTTTT others(26): Show |
intron_variant | MODIFIER | HG04199.hp1 NA18951.hp1 NA18959.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123a0001c0001t0001g0228a0001c0001t0001g0230others(1): Show | 4 | 404 | 0.0099 | 33 | c.194 others(48): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | ||||||
CDKN2A_chr9_21962752_21999392 | 21990651 | A | AGAGAGAG others(26): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0327 | 2 | 404 | 0.0050 | 33 | c.193 others(50): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | ||||||
CDNF_chr10_14814245_14843037 | 14826014 | C | CAGAAGCA others(26): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 2 | 418 | 0.0048 | 33 | c.244 others(48): Show |
CDNF | ENSG00000185267.10 | transcript | ENST00000465530.2 | protein_coding | 2/3 | chr10 | TogoVar | ||||||
CDRT4_chr17_15431015_15472621 | 15435748 | C | CAAAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 430 | 0.0023 | 33 | c.*20 others(44): Show |
CDRT4 | ENSG00000239704.12 | transcript | ENST00000619038.5 | protein_coding | 266 | chr17 | TogoVar | ||||||
CEACAM19_chr19_44666482_44689355 | 44668339 | A | ATATTATT others(26): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0071 | 1 | 390 | 0.0026 | 33 | c.-35 others(44): Show |
CEACAM19 | ENSG00000186567.14 | transcript | ENST00000358777.10 | protein_coding | 3142 | chr19 | TogoVar | ||||||
CEACAM19_chr19_44666482_44689355 | 44668591 | A | ATACACAT others(26): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 390 | 0.0026 | 33 | c.-33 others(44): Show |
CEACAM19 | ENSG00000186567.14 | transcript | ENST00000358777.10 | protein_coding | 2890 | chr19 | TogoVar | ||||||
CEACAM19_chr19_44666482_44689355 | 44686654 | G | GAAACTCG others(26): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0032 | 1 | 390 | 0.0026 | 33 | c.*31 others(44): Show |
CEACAM19 | ENSG00000186567.14 | transcript | ENST00000358777.10 | protein_coding | 2300 | chr19 | TogoVar | ||||||
CEBPZOS_chr2_37191496_37209743 | 37193643 | A | AAGAAGAA others(26): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0009 | 1 | 466 | 0.0022 | 33 | c.-28 others(44): Show |
CEBPZOS | ENSG00000218739.10 | transcript | ENST00000402297.6 | protein_coding | 2852 | chr2 | TogoVar | ||||||
CELF1_chr11_47460937_47558132 | 47489935 | G | GTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0111 | 1 | 340 | 0.0029 | 33 | c.72- others(46): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 3/14 | chr11 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11197025 | A | AGAGAGAG others(26): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0022 | 1 | 194 | 0.0052 | 33 | c.272 others(52): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 2/12 | chr10 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37491204 | G | GGACGCCG others(26): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0029 | 1 | 184 | 0.0054 | 33 | c.287 others(50): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3299563 | T | TTCTTCTT others(26): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0154 | 1 | 262 | 0.0038 | 33 | c.*28 others(44): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2488 | chr19 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46359514 | G | GGTCACCC others(26): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG01099.hp1 HG01106.hp2 others(2): Show |
a0001a0006a0021others(1): Show | a0001c0004a0006c0026a0021c0030others(1): Show | a0001c0004t0001a0006c0026t0001a0021c0030t0001others(1): Show | a0001c0004t0001g0032a0001c0004t0001g0057a0006c0026t0001g0048others(2): Show | 5 | 104 | 0.0481 | 33 | c.*37 others(44): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1659 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46359514 | G | GGTCACCC others(26): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(91): Show |
a0001a0002a0003others(44): Show | a0001c0001a0001c0002a0001c0006others(62): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0012others(65): Show | a0001c0001t0001g0029a0001c0001t0001g0037a0001c0001t0001g0041others(91): Show | 94 | 104 | 0.9039 | 33 | c.*37 others(44): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1659 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46373421 | C | CGGGGGGG others(26): Show |
intron_variant | MODIFIER | NA18995.hp1 NA19030.hp1 NA20752.hp1 |
a0001a0050 | a0001c0001a0050c0070 | a0001c0001t0001a0001c0001t0016a0050c0070t0007 | a0001c0001t0001g0041a0001c0001t0016g0069a0050c0070t0007g0003 | 3 | 104 | 0.0289 | 33 | c.758 others(50): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | TogoVar | ||||||
CELSR3_chr3_48631463_48667886 | 48635260 | C | CCGAGGCG others(26): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 NA19030.hp2 |
a0007a0016 | a0007c0013a0016c0036 | a0007c0013t0001a0016c0036t0001 | a0007c0013t0001g0024a0016c0036t0001g0096 | 2 | 206 | 0.0097 | 33 | c.*29 others(44): Show |
CELSR3 | ENSG00000008300.17 | transcript | ENST00000164024.5 | protein_coding | 1202 | chr3 | TogoVar | ||||||
CENATAC_chr11_118993138_119020793 | 119018597 | C | CATCGCCC others(26): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 318 | 0.0031 | 33 | c.*29 others(44): Show |
CENATAC | ENSG00000186166.9 | transcript | ENST00000334418.6 | protein_coding | 2805 | chr11 | TogoVar | ||||||
CENPI_chrX_101093204_101171126 | 101162473 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0015 | 1 | 282 | 0.0036 | 33 | c.213 others(50): Show |
CENPI | ENSG00000102384.14 | transcript | ENST00000682095.1 | protein_coding | 21/21 | chrX | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92533328 | A | AAAAATAT others(26): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 260 | 0.0039 | 33 | c.565 others(52): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CEP112_chr17_65630537_66197133 | 65870065 | G | GAAAGAAA others(26): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02486.hp1 HG02683.hp2 others(2): Show |
a0001a0002a0004 | a0001c0002a0002c0001a0004c0006 | a0001c0002t0001a0002c0001t0001a0004c0006t0001 | a0001c0002t0001g0054a0002c0001t0001g0036a0002c0001t0001g0098others(2): Show | 5 | 112 | 0.0446 | 33 | c.216 others(54): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 20/26 | chr17 | TogoVar | ||||||
CEP19_chr3_196701277_196717250 | 196703585 | C | CGCCCCAG others(26): Show |
downstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 432 | 0.0023 | 33 | c.*39 others(44): Show |
CEP19 | ENSG00000174007.9 | transcript | ENST00000409690.5 | protein_coding | 2691 | chr3 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118542900 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0191 | 1 | 302 | 0.0033 | 33 | c.102 others(54): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118595927 | C | CTAAAATA others(26): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0193 | 1 | 302 | 0.0033 | 33 | c.233 others(52): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GTGTGTGT others(26): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0273 | 1 | 302 | 0.0033 | 33 | c.232 others(52): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CER1_chr9_14714724_14727733 | 14718983 | C | CTAAAATT others(26): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 1 | 460 | 0.0022 | 33 | c.*11 others(44): Show |
CER1 | ENSG00000147869.5 | transcript | ENST00000380911.4 | protein_coding | 740 | chr9 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181609533 | T | TAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0267 | 1 | 298 | 0.0034 | 33 | c.239 others(50): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8231851 | A | ATTTTTTT others(26): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03516.hp2 |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0002a0003c0007t0010 | a0001c0001t0002g0144a0003c0007t0010g0006 | 2 | 418 | 0.0048 | 33 | c.-1- others(50): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CERS4_chr19_8204370_8267421 | 8267294 | C | CAAAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | NA19087.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0273 | 1 | 418 | 0.0024 | 33 | c.*51 others(44): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4874 | chr19 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75393602 | T | TAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0231 | 1 | 336 | 0.0030 | 33 | c.118 others(52): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 11/16 | chr5 | TogoVar | ||||||
CES5A_chr16_55841154_55880373 | 55854531 | C | CTTTCTGT others(26): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02486.hp2 HG02896.hp1 others(4): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0005a0001c0002t0003a0002c0003t0001others(2): Show | a0001c0001t0005g0170a0001c0002t0003g0099a0002c0003t0001g0213others(3): Show | 7 | 449 | 0.0156 | 33 | c.112 others(52): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 9/12 | chr16 | TogoVar | ||||||
CFAP298_chr21_32594354_32617377 | 32611339 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG02809.hp2 HG06807.hp2 NA18992.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0024a0001c0001t0003g0054a0001c0001t0003g0055 | 4 | 416 | 0.0096 | 33 | c.139 others(48): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 1/6 | chr21 | TogoVar | ||||||
CFAP410_chr21_44323944_44344390 | 44334517 | A | ACCCCCCC others(26): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 436 | 0.0023 | 33 | c.143 others(50): Show |
CFAP410 | ENSG00000160226.16 | transcript | ENST00000339818.9 | protein_coding | 3/6 | chr21 | TogoVar | ||||||
CFAP410_chr21_44323944_44344390 | 44334517 | A | ACCCCCCC others(26): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00673.hp2 HG00735.hp1 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0016others(4): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0031others(12): Show | 26 | 436 | 0.0596 | 33 | c.143 others(50): Show |
CFAP410 | ENSG00000160226.16 | transcript | ENST00000339818.9 | protein_coding | 3/6 | chr21 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132823834 | C | CTGTGTGT others(26): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0009 | a0009c0043 | a0009c0043t0001 | a0009c0043t0001g0155 | 1 | 246 | 0.0041 | 33 | c.711 others(52): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar |