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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP54_chr12_96484577_96880555 | 96515912 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG03490.hp1 | a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0019 | 1 | 268 | 0.0037 | -12 | c.798 others(29): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 5/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96521503 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01099.hp2 HG01243.hp1 others(7): Show |
a0001a0004a0005others(2): Show | a0001c0001a0004c0005a0005c0015others(2): Show | a0001c0001t0001a0004c0005t0001a0005c0015t0001others(2): Show | a0001c0001t0001g0035a0004c0005t0001g0036a0004c0005t0001g0037others(7): Show | 10 | 268 | 0.0373 | -12 | c.943 others(27): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 6/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96521537 | TGTGTGTG others(5): Show |
T | intron_variant | MODIFIER | HG02083.hp2 HG02145.hp1 HG02523.hp2 others(9): Show |
a0002a0003a0005others(3): Show | a0002c0003a0002c0032a0003c0033others(6): Show | a0002c0003t0001a0002c0032t0001a0003c0033t0001others(6): Show | a0002c0003t0001g0133a0002c0003t0001g0155a0002c0003t0001g0168others(9): Show | 12 | 268 | 0.0448 | -12 | c.943 others(27): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 6/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96544410 | ATCTCTCT others(5): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00423.hp2 others(79): Show |
a0002a0003a0007others(18): Show | a0002c0032a0003c0002a0003c0016others(30): Show | a0002c0032t0001a0003c0002t0001a0003c0002t0004others(32): Show | a0002c0032t0001g0222a0003c0002t0001g0210a0003c0002t0001g0211others(79): Show | 82 | 268 | 0.3060 | -12 | c.207 others(31): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 14/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96551485 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0003 | a0003c0073 | a0003c0073t0001 | a0003c0073t0001g0214 | 1 | 268 | 0.0037 | -12 | c.215 others(31): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96561704 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02451.hp1 | a0030 | a0030c0064 | a0030c0064t0001 | a0030c0064t0001g0209 | 1 | 268 | 0.0037 | -12 | c.241 others(31): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 17/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96704452 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02129.hp2 HG02886.hp2 others(3): Show |
a0001a0003a0059 | a0001c0001a0003c0002a0059c0060 | a0001c0001t0001a0003c0002t0001a0059c0060t0001 | a0001c0001t0001g0023a0001c0001t0001g0026a0003c0002t0001g0219others(3): Show | 6 | 268 | 0.0224 | -12 | c.647 others(29): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 46/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96707438 | AGAGGGTT others(5): Show |
A | intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 268 | 0.0037 | -12 | c.652 others(31): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 47/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96722710 | AATTAAGG others(5): Show |
A | intron_variant | MODIFIER | HG00423.hp1 NA18971.hp1 |
a0003 | a0003c0016 | a0003c0016t0001 | a0003c0016t0001g0247a0003c0016t0001g0248 | 2 | 268 | 0.0075 | -12 | c.696 others(31): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 50/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96806159 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG03225.hp1 |
a0001a0019 | a0001c0001a0019c0023 | a0001c0001t0001a0019c0023t0001 | a0001c0001t0001g0025a0019c0023t0001g0038 | 2 | 268 | 0.0075 | -12 | c.885 others(31): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 63/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96826857 | ATTATATA others(5): Show |
A | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 268 | 0.0037 | -12 | c.909 others(31): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96833507 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0019 | a0019c0023 | a0019c0023t0001 | a0019c0023t0001g0038 | 1 | 268 | 0.0037 | -12 | c.917 others(31): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 66/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96874620 | TATTTTTA others(5): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0171 | 1 | 268 | 0.0037 | -12 | c.*15 others(27): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 67/67 | chr12 | TogoVar | ||||||
CFAP57_chr1_43167330_43259358 | 43172573 | AAAGGGGA others(5): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp2 others(62): Show |
a0003a0010a0013others(2): Show | a0003c0002a0003c0004a0003c0022others(4): Show | a0003c0002t0001a0003c0004t0001a0003c0022t0001others(4): Show | a0003c0002t0001g0005a0003c0002t0001g0008a0003c0002t0001g0009others(62): Show | 65 | 308 | 0.2110 | -12 | c.-20 others(27): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFAP57_chr1_43167330_43259358 | 43184740 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0019 | a0019c0030 | a0019c0030t0002 | a0019c0030t0002g0265 | 1 | 308 | 0.0033 | -12 | c.762 others(27): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFAP57_chr1_43167330_43259358 | 43225051 | TTTTGTTT others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(249): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0009a0001c0015others(33): Show | a0001c0001t0001a0001c0001t0003a0001c0009t0001others(36): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0010others(243): Show | 252 | 308 | 0.8182 | -12 | c.286 others(29): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFAP57_chr1_43167330_43259358 | 43236590 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 308 | 0.0033 | -12 | c.340 others(31): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFAP58_chr10_104348833_104460102 | 104357850 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0246 | 1 | 308 | 0.0033 | -12 | c.10- others(25): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CFAP58_chr10_104348833_104460102 | 104357865 | ATACACAT others(5): Show |
A | intron_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0104 | 1 | 308 | 0.0033 | -12 | c.10- others(25): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CFAP58_chr10_104348833_104460102 | 104357878 | TACACATA others(5): Show |
T | intron_variant | MODIFIER | HG00609.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0047 | 1 | 308 | 0.0033 | -12 | c.10- others(25): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CFAP58_chr10_104348833_104460102 | 104357932 | CACACATA others(5): Show |
C | intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 308 | 0.0033 | -12 | c.10- others(25): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CFAP58_chr10_104348833_104460102 | 104396369 | TGAGAGAG others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01071.hp1 HG01109.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0123others(2): Show | 5 | 308 | 0.0162 | -12 | c.167 others(31): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CFAP58_chr10_104348833_104460102 | 104413706 | ACATCATC others(5): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG02109.hp2 HG02486.hp1 others(4): Show |
a0001a0009 | a0001c0004a0009c0021 | a0001c0004t0001a0009c0021t0002 | a0001c0004t0001g0091a0001c0004t0001g0114a0001c0004t0001g0150others(4): Show | 7 | 308 | 0.0227 | -12 | c.225 others(31): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CFAP58_chr10_104348833_104460102 | 104438349 | TTTTTTTT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(52): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0005c0006others(2): Show | a0001c0001t0001a0002c0002t0001a0005c0006t0001others(2): Show | a0001c0001t0001g0013a0001c0001t0001g0033a0001c0001t0001g0167others(51): Show | 55 | 308 | 0.1786 | -12 | c.225 others(31): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CFAP58_chr10_104348833_104460102 | 104450669 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 308 | 0.0033 | -12 | c.251 others(29): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CFAP58_chr10_104348833_104460102 | 104458594 | GTATATAT others(5): Show |
G | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00621.hp1 others(31): Show |
a0001a0002a0005others(4): Show | a0001c0001a0002c0002a0005c0006others(4): Show | a0001c0001t0001a0002c0002t0001a0005c0006t0001others(4): Show | a0001c0001t0001g0017a0001c0001t0001g0028a0001c0001t0001g0038others(31): Show | 34 | 308 | 0.1104 | -12 | c.*40 others(23): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 3493 | chr10 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20052700 | TGGCTCTG others(5): Show |
T | intron_variant | MODIFIER | NA18942.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0001 | 1 | 236 | 0.0042 | -12 | c.-37 others(27): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 1/26 | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20072091 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01099.hp1 HG01243.hp2 others(28): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(16): Show | a0001c0001t0001g0079a0001c0001t0003g0095a0001c0001t0003g0119others(28): Show | 31 | 236 | 0.1314 | -12 | c.294 others(29): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20084401 | CCTGCTGC others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(143): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0006others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0028a0001c0001t0001g0040a0001c0001t0001g0079others(143): Show | 146 | 236 | 0.6186 | -12 | c.567 others(29): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20099127 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02486.hp1 HG02809.hp2 |
a0001a0008 | a0001c0001a0008c0020 | a0001c0001t0003a0008c0020t0002 | a0001c0001t0003g0090a0001c0001t0003g0093a0008c0020t0002g0123 | 3 | 236 | 0.0127 | -12 | c.859 others(27): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 8/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20118253 | GTTTCTTT others(5): Show |
G | intron_variant | MODIFIER | HG01516.hp1 HG01516.hp2 HG01517.hp1 others(7): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(4): Show | a0001c0001t0001g0028a0001c0001t0001g0236a0001c0001t0002g0235others(7): Show | 10 | 236 | 0.0424 | -12 | c.859 others(31): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 8/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20269117 | CTATATAT others(5): Show |
C | intron_variant | MODIFIER | HG01975.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0207 | 1 | 236 | 0.0042 | -12 | c.250 others(31): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP65_chr2_218997846_219046516 | 219040012 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02258.hp2 others(9): Show |
a0007a0008a0011others(1): Show | a0007c0006a0008c0010a0008c0017others(2): Show | a0007c0006t0003a0008c0010t0001a0008c0010t0003others(3): Show | a0007c0006t0003g0041a0008c0010t0001g0014a0008c0010t0001g0037others(8): Show | 12 | 322 | 0.0373 | -12 | c.-3+ others(25): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 2/34 | chr2 | TogoVar | ||||||
CFAP65_chr2_218997846_219046516 | 219043920 | TACACACA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG02027.hp1 HG02083.hp2 HG03654.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0029 | a0001c0001t0001a0002c0002t0001a0002c0029t0001 | a0001c0001t0001g0003a0001c0001t0001g0134a0002c0002t0001g0236others(4): Show | 7 | 322 | 0.0217 | -12 | c.-24 others(23): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 2405 | chr2 | TogoVar | ||||||
CFAP68_chr11_111874541_111890975 | 111886719 | CATATATA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01109.hp1 HG01257.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0001a0001c0001t0002g0001a0001c0001t0004g0001others(1): Show | 7 | 392 | 0.0179 | -12 | c.*28 others(23): Show |
CFAP68 | ENSG00000137720.8 | transcript | ENST00000260276.8 | protein_coding | 745 | chr11 | TogoVar | ||||||
CFAP69_chr7_90240174_90316063 | 90250187 | GGAGAGAG others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01358.hp1 others(9): Show |
a0001a0002 | a0001c0006a0001c0012a0001c0016others(1): Show | a0001c0006t0001a0001c0012t0002a0001c0016t0001others(1): Show | a0001c0006t0001g0163a0001c0006t0001g0262a0001c0006t0001g0263others(9): Show | 12 | 338 | 0.0355 | -12 | c.120 others(29): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFAP69_chr7_90240174_90316063 | 90252110 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01243.hp1 HG01256.hp2 others(16): Show |
a0001a0002 | a0001c0006a0002c0001 | a0001c0006t0001a0002c0001t0001 | a0001c0006t0001g0163a0001c0006t0001g0262a0001c0006t0001g0263others(15): Show | 19 | 338 | 0.0562 | -12 | c.121 others(29): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFAP70_chr10_73248762_73363864 | 73279523 | CAATAAAT others(5): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01884.hp2 HG01891.hp2 others(12): Show |
a0002a0003a0012 | a0002c0006a0003c0003a0012c0007 | a0002c0006t0001a0003c0003t0002a0012c0007t0002 | a0002c0006t0001g0016a0003c0003t0002g0002a0003c0003t0002g0003others(12): Show | 15 | 220 | 0.0682 | -12 | c.245 others(31): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 20/27 | chr10 | TogoVar | ||||||
CFAP70_chr10_73248762_73363864 | 73284737 | CACATATA others(5): Show |
C | intron_variant | MODIFIER | HG02965.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0017 | 1 | 220 | 0.0046 | -12 | c.245 others(31): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 20/27 | chr10 | TogoVar | ||||||
CFAP70_chr10_73248762_73363864 | 73284739 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG01891.hp1 HG02976.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094a0001c0001t0001g0136a0001c0001t0001g0175others(3): Show | 6 | 220 | 0.0273 | -12 | c.245 others(31): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 20/27 | chr10 | TogoVar | ||||||
CFAP70_chr10_73248762_73363864 | 73287852 | CATCTATC others(5): Show |
C | intron_variant | MODIFIER | NA18960.hp2 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0111 | 1 | 220 | 0.0046 | -12 | c.244 others(31): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 20/27 | chr10 | TogoVar | ||||||
CFAP70_chr10_73248762_73363864 | 73295381 | AAGGGAGG others(5): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0090 | 1 | 220 | 0.0046 | -12 | c.185 others(31): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 16/27 | chr10 | TogoVar | ||||||
CFAP70_chr10_73248762_73363864 | 73316475 | TATATAGA others(5): Show |
T | intron_variant | MODIFIER | HG00735.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0013 | 1 | 220 | 0.0046 | -12 | c.112 others(31): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 10/27 | chr10 | TogoVar | ||||||
CFAP70_chr10_73248762_73363864 | 73351067 | GTGTGTAT others(5): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG02965.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196a0001c0001t0001g0202a0001c0001t0001g0203others(10): Show | 13 | 220 | 0.0591 | -12 | c.250 others(29): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 3/27 | chr10 | TogoVar | ||||||
CFAP70_chr10_73248762_73363864 | 73351069 | GTGTATAT others(5): Show |
G | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 220 | 0.0046 | -12 | c.250 others(29): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 3/27 | chr10 | TogoVar | ||||||
CFAP70_chr10_73248762_73363864 | 73351071 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0024 | 1 | 220 | 0.0046 | -12 | c.250 others(29): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 3/27 | chr10 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1919942 | TCTCGCAG others(5): Show |
T | downstream_gene_variant | MODIFIER | NA18940.hp2 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0059 | 1 | 278 | 0.0036 | -12 | c.*23 others(23): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 2014 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1923061 | GTGTCAAA others(5): Show |
G | disruptive_inframe_deletion | MODERATE | NA18950.hp2 | a0043 | a0043c0088 | a0043c0088t0001 | a0043c0088t0001g0137 | 1 | 278 | 0.0036 | -12 | c.459 others(21): Show |
p.Ile others(15): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 37/39 | 4711/5355 | 4595/4920 | 1532/1639 | chr1 | TogoVar | ||
CFAP74_chr1_1916957_2008786 | 1927063 | GCCCCCAC others(5): Show |
G | intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0114 | 1 | 278 | 0.0036 | -12 | c.352 others(27): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 28/38 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1960239 | GTGTGCGA others(5): Show |
G | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 278 | 0.0036 | -12 | c.169 others(29): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 14/38 | chr1 | TogoVar |