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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CES3_chr16_66956266_66980149 | 66956786 | TGAGGCAC others(19): Show |
T | upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014 | 1 | 330 | 0.0030 | -26 | c.-45 others(37): Show |
CES3 | ENSG00000172828.13 | transcript | ENST00000303334.9 | protein_coding | 4479 | chr16 | TogoVar | ||||||
CFAP100_chr3_126389909_126441556 | 126401397 | TTATATAT others(19): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01255.hp2 HG01928.hp2 others(31): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(5): Show | a0001c0001t0001g0017a0001c0001t0001g0148a0001c0001t0001g0274others(24): Show | 34 | 422 | 0.0806 | -26 | c.49+ others(41): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP100_chr3_126389909_126441556 | 126427472 | GGTGTCTG others(19): Show |
G | intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 422 | 0.0024 | -26 | c.128 others(45): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP141_chr1_154194085_154211333 | 154203172 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG02683.hp1 HG03130.hp2 HG03139.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0042a0001c0001t0001g0068others(2): Show | 13 | 372 | 0.0350 | -26 | c.74+ others(41): Show |
CFAP141 | ENSG00000163263.7 | transcript | ENST00000368525.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81133176 | CATATATA others(19): Show |
C | upstream_gene_variant | MODIFIER | HG02602.hp2 HG02818.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064a0001c0001t0001g0167 | 3 | 448 | 0.0067 | -26 | c.-11 others(37): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 1093 | chr15 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81146831 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00558.hp2 others(103): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0014others(61): Show | 106 | 448 | 0.2366 | -26 | c.637 others(42): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121998432 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG02486.hp2 NA18612.hp1 NA19030.hp1 |
a0005a0006 | a0005c0005a0006c0006 | a0005c0005t0001a0006c0006t0001 | a0005c0005t0001g0234a0005c0005t0001g0265a0006c0006t0001g0269 | 3 | 354 | 0.0085 | -26 | c.300 others(45): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80916252 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | NA18964.hp2 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078a0001c0001t0001g0079 | 2 | 96 | 0.0208 | -26 | c.477 others(45): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80929351 | ACACCACT others(19): Show |
A | intron_variant | MODIFIER | HG00642.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 1 | 96 | 0.0104 | -26 | c.477 others(45): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80929413 | CCATCCAG others(19): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG03516.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0022a0001c0004t0001g0050 | 2 | 96 | 0.0208 | -26 | c.477 others(45): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP43_chr10_104124888_104237364 | 104126337 | TCCATCTG others(19): Show |
T | downstream_gene_variant | MODIFIER | NA18988.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0076 | 1 | 306 | 0.0033 | -26 | c.*37 others(37): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 3550 | chr10 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104220949 | CGTGTGTG others(19): Show |
C | intron_variant | MODIFIER | NA19064.hp1 | a0012 | a0012c0016 | a0012c0016t0001 | a0012c0016t0001g0290 | 1 | 306 | 0.0033 | -26 | c.416 others(43): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 3/37 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132821332 | ATGTGTGC others(19): Show |
A | intron_variant | MODIFIER | HG03831.hp2 | a0034 | a0034c0044 | a0034c0044t0001 | a0034c0044t0001g0193 | 1 | 246 | 0.0041 | -26 | c.711 others(45): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36077183 | CTTTTTTT others(19): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0007 | a0007c0006 | a0007c0006t0001 | a0007c0006t0001g0203 | 1 | 216 | 0.0046 | -26 | c.469 others(45): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 29/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36243647 | GTATATAT others(19): Show |
G | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0020 | a0020c0017 | a0020c0017t0001 | a0020c0017t0001g0089a0020c0017t0001g0090 | 2 | 216 | 0.0093 | -26 | c.733 others(45): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 48/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96704452 | GTATATAT others(19): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02895.hp1 HG02896.hp1 others(4): Show |
a0004a0026 | a0004c0011a0004c0081a0026c0025 | a0004c0011t0001a0004c0081t0001a0026c0025t0001 | a0004c0011t0001g0117a0004c0011t0001g0118a0004c0011t0001g0119others(4): Show | 7 | 268 | 0.0261 | -26 | c.647 others(43): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 46/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96806159 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG01952.hp2 HG02886.hp1 HG03209.hp2 others(2): Show |
a0001a0007a0020others(2): Show | a0001c0001a0007c0071a0020c0024others(2): Show | a0001c0001t0001a0007c0071t0001a0020c0024t0001others(2): Show | a0001c0001t0001g0032a0007c0071t0001g0180a0020c0024t0001g0009others(2): Show | 5 | 268 | 0.0187 | -26 | c.885 others(45): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 63/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP58_chr10_104348833_104460102 | 104396369 | TGAGAGAG others(19): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(32): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0007a0002c0002others(4): Show | a0001c0003t0002a0001c0007t0001a0002c0002t0001others(5): Show | a0001c0003t0002g0137a0001c0003t0002g0175a0001c0003t0002g0191others(31): Show | 35 | 308 | 0.1136 | -26 | c.167 others(45): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CFAP58_chr10_104348833_104460102 | 104438335 | TTTTTTGT others(19): Show |
T | intron_variant | MODIFIER | HG02809.hp2 HG02895.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0133a0002c0002t0001g0134 | 2 | 308 | 0.0065 | -26 | c.225 others(45): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CFAP58_chr10_104348833_104460102 | 104438341 | GTTTTTTG others(19): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG02717.hp1 HG02896.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0001a0002c0002t0002 | a0001c0001t0001g0257a0001c0001t0001g0258a0001c0001t0001g0259others(3): Show | 6 | 308 | 0.0195 | -26 | c.225 others(45): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CFAP58_chr10_104348833_104460102 | 104458538 | ATATATGT others(19): Show |
A | downstream_gene_variant | MODIFIER | HG02976.hp2 HG03486.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0061 | 3 | 308 | 0.0097 | -26 | c.*40 others(37): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 3437 | chr10 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20106000 | CTATATAT others(19): Show |
C | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0021 | 1 | 236 | 0.0042 | -26 | c.859 others(43): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 8/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP69_chr7_90240174_90316063 | 90264100 | AAAAAATA others(19): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0019 | a0001c0019t0002 | a0001c0019t0002g0165 | 1 | 338 | 0.0030 | -26 | c.357 others(43): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFAP70_chr10_73248762_73363864 | 73284739 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 220 | 0.0046 | -26 | c.245 others(45): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 20/27 | chr10 | TogoVar | ||||||
CFAP70_chr10_73248762_73363864 | 73316463 | GATATATA others(19): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG01081.hp2 HG02965.hp2 others(6): Show |
a0002a0004a0006others(1): Show | a0002c0002a0004c0004a0006c0015others(1): Show | a0002c0002t0001a0004c0004t0001a0006c0015t0001others(1): Show | a0002c0002t0001g0026a0002c0002t0001g0045a0002c0002t0001g0047others(6): Show | 9 | 220 | 0.0409 | -26 | c.112 others(45): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 10/27 | chr10 | TogoVar | ||||||
CFAP70_chr10_73248762_73363864 | 73351065 | GTGTGTGT others(19): Show |
G | intron_variant | MODIFIER | NA18952.hp2 NA19057.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0039a0002c0002t0001g0071 | 2 | 220 | 0.0091 | -26 | c.250 others(43): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 3/27 | chr10 | TogoVar | ||||||
CFAP70_chr10_73248762_73363864 | 73351067 | GTGTGTAT others(19): Show |
G | intron_variant | MODIFIER | NA19060.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0040 | 1 | 220 | 0.0046 | -26 | c.250 others(43): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 3/27 | chr10 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1924995 | CGAAGGCA others(19): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp2 HG02717.hp1 |
a0005a0064 | a0005c0044a0005c0083a0064c0060 | a0005c0044t0001a0005c0083t0001a0064c0060t0001 | a0005c0044t0001g0066a0005c0083t0001g0035a0064c0060t0001g0021 | 3 | 278 | 0.0108 | -26 | c.410 others(43): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 33/38 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1925271 | CGAGGGCA others(19): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp2 HG02717.hp1 |
a0005a0064 | a0005c0044a0005c0083a0064c0060 | a0005c0044t0001a0005c0083t0001a0064c0060t0001 | a0005c0044t0001g0066a0005c0083t0001g0035a0064c0060t0001g0021 | 3 | 278 | 0.0108 | -26 | c.410 others(43): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 33/38 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1971389 | GTGCACAC others(19): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0007 | a0007c0023 | a0007c0023t0001 | a0007c0023t0001g0036 | 1 | 278 | 0.0036 | -26 | c.888 others(41): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 9/38 | chr1 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132561637 | ACACACAC others(19): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0004 | a0004c0009 | a0004c0009t0002 | a0004c0009t0002g0001 | 1 | 322 | 0.0031 | -26 | c.733 others(45): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP97D2_chr13_114174257_114228085 | 114225444 | GAGGGGAA others(19): Show |
G | downstream_gene_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0176 | 1 | 400 | 0.0025 | -26 | c.*29 others(37): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 2360 | chr13 | TogoVar | ||||||
CFAP97D2_chr13_114174257_114228085 | 114225500 | GGGGGAGG others(19): Show |
G | downstream_gene_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0151 | 1 | 400 | 0.0025 | -26 | c.*29 others(37): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 2416 | chr13 | TogoVar | ||||||
CFAP99_chr4_2413955_2468002 | 2447095 | GATGGATG others(19): Show |
G | intron_variant | MODIFIER | NA18975.hp1 | a0009 | a0009c0038 | a0009c0038t0001 | a0009c0038t0001g0292 | 1 | 350 | 0.0029 | -26 | c.642 others(43): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFDP1_chr16_75288710_75438503 | 75377103 | CCTCCAGG others(19): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285a0001c0001t0001g0304 | 2 | 314 | 0.0064 | -26 | c.650 others(45): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75384852 | CTATATAT others(19): Show |
C | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0182 | 1 | 314 | 0.0032 | -26 | c.650 others(45): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFHR3_chr1_196769840_196800407 | 196773670 | TTATATAT others(19): Show |
T | upstream_gene_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0001 | a0002c0001t0016 | a0002c0001t0016g0085 | 1 | 261 | 0.0038 | -26 | c.-12 others(37): Show |
CFHR3 | ENSG00000116785.15 | transcript | ENST00000367425.9 | protein_coding | 1169 | chr1 | TogoVar | ||||||
CFHR5_chr1_196972556_197014678 | 196999708 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | NA18947.hp1 NA19006.hp2 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192a0001c0001t0001g0193a0001c0001t0001g0230 | 3 | 356 | 0.0084 | -26 | c.114 others(45): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFHR5_chr1_196972556_197014678 | 197006369 | TTTTATTT others(19): Show |
T | intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0081 | 1 | 356 | 0.0028 | -26 | c.151 others(45): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 9/9 | chr1 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201114024 | ATATATAT others(19): Show |
A | upstream_gene_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0002 | a0001c0002t0124 | a0001c0002t0124g0005 | 1 | 234 | 0.0043 | -26 | c.-25 others(37): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2139 | chr2 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201114026 | ATATATAT others(19): Show |
A | upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0023 | 1 | 234 | 0.0043 | -26 | c.-25 others(37): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2137 | chr2 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57374538 | TTGTGTGT others(19): Show |
T | upstream_gene_variant | MODIFIER | HG02486.hp1 | a0005 | a0005c0006 | a0005c0006t0003 | a0005c0006t0003g0002 | 1 | 294 | 0.0034 | -26 | c.-20 others(37): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1966 | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57405802 | CTTTCTTT others(19): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG02258.hp1 HG02559.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0010a0002c0002t0007others(1): Show | a0001c0001t0004g0091a0001c0001t0010g0262a0002c0002t0007g0045others(1): Show | 4 | 294 | 0.0136 | -26 | c.-16 others(45): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57405826 | CTTTTTCT others(19): Show |
C | intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 294 | 0.0034 | -26 | c.-16 others(45): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHAC1_chr15_40948471_40961512 | 40959676 | GCCTTAGG others(19): Show |
G | downstream_gene_variant | MODIFIER | NA18612.hp2 NA19067.hp1 NA19067.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0003g0001 | 3 | 420 | 0.0071 | -26 | c.*39 others(37): Show |
CHAC1 | ENSG00000128965.13 | transcript | ENST00000617768.5 | protein_coding | 3165 | chr15 | TogoVar | ||||||
CHADL_chr22_41224513_41245931 | 41242143 | CATATATA others(19): Show |
C | upstream_gene_variant | MODIFIER | HG02486.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177a0001c0001t0001g0185 | 2 | 414 | 0.0048 | -26 | c.-12 others(37): Show |
CHADL | ENSG00000100399.16 | transcript | ENST00000216241.14 | protein_coding | 1213 | chr22 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132807606 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02895.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284a0001c0001t0001g0289a0001c0001t0001g0290others(1): Show | 4 | 310 | 0.0129 | -26 | c.525 others(45): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132839483 | TAAGACTC others(19): Show |
T | intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 310 | 0.0032 | -26 | c.454 others(43): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 5/7 | chr7 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126862111 | TCTACCAC others(19): Show |
T | intron_variant | MODIFIER | NA18960.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0024 | 1 | 216 | 0.0046 | -26 | c.495 others(43): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | chr3 | TogoVar | ||||||
CHGB_chr20_5906510_5930353 | 5926064 | AAAAAATA others(19): Show |
A | downstream_gene_variant | MODIFIER | NA18906.hp1 NA18941.hp2 NA19003.hp1 |
a0003a0007 | a0003c0003a0007c0007 | a0003c0003t0003a0007c0007t0004 | a0003c0003t0003g0017a0003c0003t0003g0025a0007c0007t0004g0154 | 3 | 440 | 0.0068 | -26 | c.*10 others(37): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 712 | chr20 | TogoVar |