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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CENPF_chr1_214598195_214669571 | 214616819 | CTTCTTTC others(33): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0012 | a0012c0015 | a0012c0015t0004 | a0012c0015t0004g0056 | 1 | 276 | 0.0036 | -40 | c.360 others(57): Show |
CENPF | ENSG00000117724.15 | transcript | ENST00000366955.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CENPF_chr1_214598195_214669571 | 214616835 | CTCTTTCT others(33): Show |
C | intron_variant | MODIFIER | HG03704.hp2 NA18943.hp1 NA18973.hp2 others(5): Show |
a0005a0043 | a0005c0005a0043c0043 | a0005c0005t0003a0043c0043t0006 | a0005c0005t0003g0005 a0005c0005t0003g0210 a0005c0005t0003g0214 others(1): Show |
8 | 41 | 0.1951 | -40 | c.360 others(57): Show |
CENPF | ENSG00000117724.15 | transcript | ENST00000366955.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CENPK_chr5_65512766_65568168 | 65527498 | CATATATA others(33): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0226 a0001c0001t0004g0251 |
2 | 5 | 0.4000 | -40 | c.597 others(55): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 9/10 | chr5 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65937302 | GCCCGGCC others(33): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02145.hp2 others(7): Show |
a0002 | a0002c0001a0002c0007a0002c0008 | a0002c0001t0001a0002c0007t0001a0002c0008t0001 | a0002c0001t0001g0029 a0002c0001t0001g0043 a0002c0001t0001g0045 others(7): Show |
10 | 110 | 0.0909 | -40 | c.187 others(59): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 18/26 | chr17 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80656273 | TTTTATTT others(33): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG03098.hp2 HG03195.hp1 others(1): Show |
a0002a0004a0011 | a0002c0002a0004c0004a0011c0018 | a0002c0002t0004a0002c0002t0010a0004c0004t0014others(1): Show | a0002c0002t0004g0067 a0002c0002t0010g0010 a0004c0004t0014g0069 others(1): Show |
4 | 150 | 0.0267 | -40 | c.280 others(61): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80656275 | TTATTTAT others(33): Show |
T | intron_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0081 | 1 | 109 | 0.0092 | -40 | c.280 others(61): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81227790 | TGTGATAG others(33): Show |
T | upstream_gene_variant | MODIFIER | HG02572.hp1 | a0029 | a0029c0067 | a0029c0067t0001 | a0029c0067t0001g0126 | 1 | 382 | 0.0026 | -40 | c.-50 others(51): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 4826 | chr17 | TogoVar | |||||||
CEP170_chr1_243119428_243260281 | 243257481 | AAAATAAT others(33): Show |
A | upstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0112 | 1 | 302 | 0.0033 | -40 | c.-25 others(51): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 2201 | chr1 | TogoVar | |||||||
CEP192_chr18_12986362_13130036 | 13098406 | GCTCCTCA others(33): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(43): Show |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0004 | a0004c0004t0001g0001 a0004c0004t0001g0002 a0004c0004t0001g0005 others(33): Show |
46 | 390 | 0.1179 | -40 | c.655 others(59): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 36/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 633036 | GCCGGGAT others(33): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(15): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(14): Show |
18 | 90 | 0.2000 | -40 | c.513 others(55): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CEP97_chr3_101719614_101775562 | 101763875 | ACATTATT others(33): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00544.hp1 others(111): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0003a0004c0004others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0012others(5): Show | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0005 others(93): Show |
114 | 350 | 0.3257 | -40 | c.189 others(57): Show |
CEP97 | ENSG00000182504.12 | transcript | ENST00000341893.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CEPT1_chr1_111135223_111190104 | 111154187 | GTATTTTA others(33): Show |
G | intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 36 | 0.0278 | -40 | c.340 others(57): Show |
CEPT1 | ENSG00000134255.16 | transcript | ENST00000357172.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CETP_chr16_56956950_56988845 | 56959938 | GGAAAGAA others(33): Show |
G | upstream_gene_variant | MODIFIER | HG02083.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0124 | 1 | 145 | 0.0069 | -40 | c.-20 others(51): Show |
CETP | ENSG00000087237.12 | transcript | ENST00000200676.8 | protein_coding | 2011 | chr16 | TogoVar | |||||||
CFAP100_chr3_126389909_126441556 | 126401397 | TTATATAT others(33): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG06807.hp2 |
a0001a0012 | a0001c0001a0012c0020 | a0001c0001t0001a0012c0020t0001 | a0001c0001t0001g0208 a0012c0020t0001g0089 |
2 | 60 | 0.0333 | -40 | c.49+ others(55): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CFAP141_chr1_154194085_154211333 | 154203172 | AATATATA others(33): Show |
A | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 29 | 0.0345 | -40 | c.74+ others(55): Show |
CFAP141 | ENSG00000163263.7 | transcript | ENST00000368525.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132820513 | AGTGCTGA others(33): Show |
A | intron_variant | MODIFIER | HG03017.hp1 | a0054 | a0054c0105 | a0054c0105t0001 | a0054c0105t0001g0239 | 1 | 243 | 0.0041 | -40 | c.711 others(59): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132881600 | AGGGTTAG others(33): Show |
A | intron_variant | MODIFIER | HG02074.hp2 | a0002 | a0002c0045 | a0002c0045t0001 | a0002c0045t0001g0191 | 1 | 244 | 0.0041 | -40 | c.362 others(57): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 27/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132881656 | GCACCCTC others(33): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(76): Show |
a0002a0003a0004others(18): Show | a0002c0002a0002c0003a0002c0023others(27): Show | a0002c0002t0001a0002c0003t0001a0002c0023t0001others(29): Show | a0002c0002t0001g0126 a0002c0002t0001g0134 a0002c0002t0001g0137 others(75): Show |
79 | 244 | 0.3238 | -40 | c.362 others(57): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 27/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132887182 | TTCTCTCT others(33): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(6): Show |
a0011a0018a0030others(2): Show | a0011c0010a0018c0020a0030c0056others(2): Show | a0011c0010t0001a0018c0020t0001a0030c0056t0001others(2): Show | a0011c0010t0001g0186 a0011c0010t0001g0187 a0011c0010t0001g0193 others(6): Show |
9 | 239 | 0.0377 | -40 | c.330 others(59): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP47_chrX_35914734_36390317 | 35923884 | CATATATA others(33): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0185 | 1 | 211 | 0.0047 | -40 | c.250 others(57): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35923891 | ATGTGTAT others(33): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0010 | a0010c0030 | a0010c0030t0001 | a0010c0030t0001g0184 | 1 | 213 | 0.0047 | -40 | c.250 others(57): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35923917 | ATGTACAT others(33): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00621.hp1 others(40): Show |
a0001a0002a0008others(12): Show | a0001c0067a0002c0002a0002c0013others(16): Show | a0001c0067t0001a0002c0002t0001a0002c0013t0001others(16): Show | a0001c0067t0001g0150 a0002c0002t0001g0146 a0002c0002t0001g0151 others(40): Show |
43 | 214 | 0.2009 | -40 | c.250 others(57): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96512299 | TTTTATAT others(33): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp1 others(52): Show |
a0002a0003a0004others(11): Show | a0002c0032a0003c0002a0003c0016others(18): Show | a0002c0032t0001a0003c0002t0001a0003c0002t0004others(19): Show | a0002c0032t0001g0216 a0003c0002t0001g0210 a0003c0002t0001g0211 others(52): Show |
55 | 220 | 0.2500 | -40 | c.740 others(55): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 4/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96553488 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG03209.hp1 NA18995.hp2 |
a0002 | a0002c0003a0002c0007 | a0002c0003t0001a0002c0007t0001 | a0002c0003t0001g0168 a0002c0007t0001g0157 |
2 | 266 | 0.0075 | -40 | c.215 others(57): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96806159 | AATATATA others(33): Show |
A | intron_variant | MODIFIER | NA19082.hp1 | a0002 | a0002c0091 | a0002c0091t0001 | a0002c0091t0001g0138 | 1 | 102 | 0.0098 | -40 | c.885 others(59): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 63/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104396369 | TGAGAGAG others(33): Show |
T | intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 47 | 0.0213 | -40 | c.167 others(59): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104396400 | GAGAGAGA others(33): Show |
G | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0241 | 1 | 306 | 0.0033 | -40 | c.167 others(59): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20355395 | ATGGTCAC others(33): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00639.hp2 others(92): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0003a0001c0006others(24): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(37): Show | a0001c0001t0001g0028 a0001c0001t0001g0040 a0001c0001t0001g0078 others(92): Show |
95 | 234 | 0.4060 | -40 | c.351 others(59): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20356461 | GTGGTCAC others(33): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG02896.hp1 HG02922.hp1 others(4): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0004a0002c0002t0001others(3): Show | a0001c0001t0001g0078 a0001c0003t0004g0004 a0002c0002t0001g0136 others(4): Show |
7 | 232 | 0.0302 | -40 | c.351 others(59): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP69_chr7_90240174_90316063 | 90290743 | GTCTTTTC others(33): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG01123.hp1 others(3): Show |
a0001a0002a0005 | a0001c0019a0002c0001a0005c0009 | a0001c0019t0002a0002c0001t0001a0005c0009t0002 | a0001c0019t0002g0164 a0002c0001t0001g0044 a0002c0001t0001g0045 others(3): Show |
6 | 8 | 0.7500 | -40 | c.177 others(59): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFAP70_chr10_73248762_73363864 | 73284737 | CACATATA others(33): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0090 | 1 | 148 | 0.0068 | -40 | c.245 others(59): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 20/27 | chr10 | TogoVar | |||||||
CFAP70_chr10_73248762_73363864 | 73284739 | CATATATA others(33): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01884.hp2 HG02145.hp2 others(8): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0002 a0003c0003t0002g0003 a0003c0003t0002g0004 others(8): Show |
11 | 95 | 0.1158 | -40 | c.245 others(59): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 20/27 | chr10 | TogoVar | |||||||
CFAP77_chr9_132405211_132578319 | 132486026 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG01169.hp2 HG01192.hp2 others(12): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0007 | a0001c0002t0001a0001c0002t0002a0002c0003t0001others(2): Show | a0001c0002t0001g0288 a0001c0002t0002g0302 a0002c0003t0001g0008 others(12): Show |
15 | 315 | 0.0476 | -40 | c.196 others(59): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP97D2_chr13_114174257_114228085 | 114177377 | CTGTGGGT others(33): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01361.hp2 HG01993.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0013 a0001c0001t0006g0040 a0001c0001t0006g0330 others(9): Show |
15 | 398 | 0.0377 | -40 | c.-19 others(51): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 1879 | chr13 | TogoVar | |||||||
CFH_chr1_196647043_196752504 | 196692746 | TTTTCTTT others(33): Show |
T | intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 80 | 0.0125 | -40 | c.133 others(59): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHAT_chr10_49609037_49672942 | 49647740 | TTTCCTTC others(33): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0281 | 1 | 27 | 0.0370 | -40 | c.128 others(57): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CHD5_chr1_6096787_6185321 | 6155072 | CCCCAGCT others(33): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(105): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(16): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0008others(50): Show | a0001c0001t0004g0095 a0001c0001t0007g0272 a0001c0001t0008g0093 others(103): Show |
108 | 318 | 0.3396 | -40 | c.507 others(55): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 4/41 | chr1 | TogoVar | |||||||
CHD8_chr14_21380199_21461123 | 21442718 | AGGGAGGA others(33): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0218 a0001c0001t0003g0239 |
2 | 254 | 0.0079 | -40 | c.-21 others(61): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1/37 | chr14 | TogoVar | |||||||
CHD8_chr14_21380199_21461123 | 21442738 | CGGGAGGA others(33): Show |
C | intron_variant | MODIFIER | HG03130.hp2 HG03453.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0034 a0001c0003t0002g0035 |
2 | 151 | 0.0132 | -40 | c.-21 others(61): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1/37 | chr14 | TogoVar | |||||||
CHGA_chr14_92918150_92940285 | 92929294 | ACCAGCCA others(33): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG02071.hp2 HG02109.hp1 others(8): Show |
a0001a0019 | a0001c0001a0019c0033 | a0001c0001t0001a0001c0001t0004a0019c0033t0004 | a0001c0001t0001g0010 a0001c0001t0001g0054 a0001c0001t0001g0073 others(5): Show |
11 | 430 | 0.0256 | -40 | c.257 others(55): Show |
CHGA | ENSG00000100604.13 | transcript | ENST00000216492.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CHMP3_chr2_86498430_86568443 | 86545498 | TGGGGCGA others(33): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(162): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(11): Show | a0001c0001t0001g0025 a0001c0001t0001g0158 a0001c0001t0001g0159 others(142): Show |
165 | 333 | 0.4955 | -40 | c.46- others(55): Show |
CHMP3 | ENSG00000115561.16 | transcript | ENST00000263856.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
CHMP6_chr17_80986841_81005133 | 80994856 | GCCCGGGC others(33): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01346.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 2 | 299 | 0.0067 | -40 | c.174 others(55): Show |
CHMP6 | ENSG00000176108.9 | transcript | ENST00000325167.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 86021134 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01070.hp1 HG01257.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 a0001c0001t0001g0143 a0001c0001t0001g0144 others(3): Show |
6 | 243 | 0.0247 | -40 | c.116 others(57): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 2/14 | chrX | TogoVar | |||||||
CHRDL1_chrX_110668856_110800817 | 110697814 | CCACACAC others(33): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02572.hp1 others(5): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0002t0008a0001c0002t0012others(2): Show | a0001c0002t0001g0134 a0001c0002t0008g0010 a0001c0002t0008g0015 others(5): Show |
8 | 27 | 0.2963 | -40 | c.609 others(57): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 7/11 | chrX | TogoVar | |||||||
CHRM3_chr1_239381568_239920450 | 239383381 | TTCTTTCT others(33): Show |
T | upstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0023 | 1 | 114 | 0.0088 | -40 | c.-43 others(51): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 3186 | chr1 | TogoVar | |||||||
CHRM3_chr1_239381568_239920450 | 239404402 | AAGAAAGA others(33): Show |
A | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0075 | 1 | 110 | 0.0091 | -40 | c.-52 others(61): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63366189 | GGTGCTCC others(33): Show |
G | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01255.hp2 HG04204.hp1 |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0031a0001c0002t0001a0002c0006t0036 | a0001c0001t0031g0137 a0001c0002t0001g0091 a0002c0006t0036g0116 |
3 | 122 | 0.0246 | -40 | c.-50 others(51): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 4841 | chr20 | TogoVar | |||||||
CHRNB3_chr8_42692366_42742407 | 42723065 | TAATAGGA others(33): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01175.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0004t0007others(1): Show | a0001c0001t0001g0039 a0001c0001t0001g0054 a0001c0001t0001g0055 others(16): Show |
19 | 280 | 0.0679 | -40 | c.250 others(57): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHRNB4_chr15_78619111_78646210 | 78632195 | TTCTTTCT others(33): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0005 | a0005c0008 | a0005c0008t0014 | a0005c0008t0014g0057 | 1 | 247 | 0.0040 | -40 | c.205 others(55): Show |
CHRNB4 | ENSG00000117971.12 | transcript | ENST00000261751.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
CHST12_chr7_2398611_2453484 | 2452522 | GCCCTGCC others(33): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0144 | a0001c0001t0144g0233 | 1 | 340 | 0.0029 | -40 | c.*18 others(53): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 4039 | chr7 | TogoVar |