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 | 96512301 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02148.hp2 NA18942.hp2 |
a0001a0002a0006 | a0001c0001a0002c0007a0006c0010 | a0001c0001t0001a0002c0007t0001a0006c0010t0001 | a0001c0001t0001g0166a0002c0007t0001g0125a0006c0010t0001g0153 | 3 | 268 | 0.0112 | 12 | c.740 others(27): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 4/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96535008 | C | CTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0026 | a0026c0025 | a0026c0025t0001 | a0026c0025t0001g0003 | 1 | 268 | 0.0037 | 12 | c.170 others(29): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 11/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96551485 | A | ATGTGTGT others(5): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0157 | 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 | 96617989 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(81): Show |
a0001a0003a0004others(15): Show | a0001c0001a0001c0012a0001c0047others(22): Show | a0001c0001t0001a0001c0012t0001a0001c0047t0001others(22): Show | a0001c0001t0001g0004a0001c0001t0001g0018a0001c0001t0001g0021others(81): Show | 84 | 268 | 0.3134 | 12 | c.364 others(31): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 26/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96621875 | G | GTTTTTTT others(5): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0016 | 1 | 268 | 0.0037 | 12 | c.377 others(29): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 27/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96634046 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01123.hp1 HG03654.hp2 others(2): Show |
a0008a0016a0046others(1): Show | a0008c0009a0016c0022a0046c0053others(1): Show | a0008c0009t0001a0016c0022t0001a0046c0053t0001others(1): Show | a0008c0009t0001g0028a0008c0009t0001g0104a0016c0022t0001g0223others(2): Show | 5 | 268 | 0.0187 | 12 | c.431 others(31): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 32/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96647472 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01978.hp1 HG01993.hp1 HG01993.hp2 others(8): Show |
a0001a0004a0006others(1): Show | a0001c0001a0004c0005a0006c0006others(2): Show | a0001c0001t0001a0004c0005t0001a0006c0006t0001others(2): Show | a0001c0001t0001g0026a0001c0001t0001g0055a0001c0001t0001g0068others(8): Show | 11 | 268 | 0.0410 | 12 | c.454 others(29): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 33/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96654832 | A | ATTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0054 | a0054c0034 | a0054c0034t0001 | a0054c0034t0001g0006 | 1 | 268 | 0.0037 | 12 | c.510 others(31): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 36/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96664622 | A | ATGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0054 | a0054c0034 | a0054c0034t0001 | a0054c0034t0001g0006 | 1 | 268 | 0.0037 | 12 | c.556 others(29): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 39/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96664759 | A | ATATATCT others(5): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02071.hp2 HG02738.hp2 |
a0008a0031a0043 | a0008c0009a0031c0074a0043c0080 | a0008c0009t0001a0031c0074t0001a0043c0080t0001 | a0008c0009t0001g0104a0031c0074t0001g0243a0043c0080t0001g0251 | 3 | 268 | 0.0112 | 12 | c.556 others(29): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 39/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96664781 | A | ATCTATAT others(5): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 |
a0011 | a0011c0017 | a0011c0017t0001 | a0011c0017t0001g0259a0011c0017t0001g0260 | 2 | 268 | 0.0075 | 12 | c.556 others(29): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 39/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96664793 | A | ATCTATAT others(5): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0008 | a0008c0087 | a0008c0087t0001 | a0008c0087t0001g0178 | 1 | 268 | 0.0037 | 12 | c.556 others(29): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 39/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96709701 | T | TTTATTAT others(5): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00544.hp1 others(50): Show |
a0002a0003a0004others(11): Show | a0002c0003a0002c0007a0002c0032others(22): Show | a0002c0003t0001a0002c0007t0001a0002c0032t0001others(22): Show | a0002c0003t0001g0131a0002c0003t0001g0139a0002c0003t0001g0151others(50): Show | 53 | 268 | 0.1978 | 12 | c.672 others(29): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 48/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96752085 | T | TGAGAGAG others(5): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01123.hp2 HG01168.hp2 others(18): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0012a0001c0047others(10): Show | a0001c0001t0001a0001c0012t0001a0001c0047t0001others(10): Show | a0001c0001t0001g0004a0001c0001t0001g0033a0001c0001t0001g0050others(18): Show | 21 | 268 | 0.0784 | 12 | c.768 others(31): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 55/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96806159 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0062 | a0062c0098 | a0062c0098t0001 | a0062c0098t0001g0208 | 1 | 268 | 0.0037 | 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 | 96806213 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02129.hp2 HG02683.hp1 others(3): Show |
a0002a0003a0004others(1): Show | a0002c0003a0003c0002a0003c0033others(2): Show | a0002c0003t0001a0003c0002t0001a0003c0033t0001others(2): Show | a0002c0003t0001g0157a0003c0002t0001g0240a0003c0002t0001g0249others(3): Show | 6 | 268 | 0.0224 | 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 | 96850728 | G | GCTGGGGA others(5): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01123.hp2 HG01358.hp1 others(20): Show |
a0005a0006a0035others(1): Show | a0005c0004a0005c0015a0005c0020others(4): Show | a0005c0004t0001a0005c0015t0001a0005c0020t0001others(4): Show | a0005c0004t0001g0010a0005c0004t0001g0011a0005c0004t0001g0012others(20): Show | 23 | 268 | 0.0858 | 12 | c.917 others(33): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 66/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP57_chr1_43167330_43259358 | 43172563 | G | GGGGGAGG others(5): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG00741.hp1 others(35): Show |
a0001a0002a0004others(3): Show | a0001c0020a0002c0003a0002c0031others(4): Show | a0001c0020t0002a0002c0003t0002a0002c0031t0002others(4): Show | a0001c0020t0002g0294a0001c0020t0002g0296a0002c0003t0002g0006others(33): Show | 38 | 308 | 0.1234 | 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 | 43172573 | A | AAAGGGGA others(5): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02486.hp1 HG02559.hp1 others(21): Show |
a0002a0006a0014others(1): Show | a0002c0005a0002c0011a0002c0012others(5): Show | a0002c0005t0001a0002c0011t0001a0002c0012t0001others(5): Show | a0002c0005t0001g0012a0002c0005t0001g0014a0002c0005t0001g0016others(21): Show | 24 | 308 | 0.0779 | 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 | 43219955 | A | AAAATAAA others(5): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0035 | a0002c0035t0001 | a0002c0035t0001g0025 | 1 | 308 | 0.0033 | 12 | c.224 others(29): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFAP57_chr1_43167330_43259358 | 43225051 | T | TTTTGTTT others(5): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0038 | 1 | 308 | 0.0033 | 12 | c.286 others(29): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFAP58_chr10_104348833_104460102 | 104383753 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG02155.hp1 HG02280.hp2 HG02970.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0001a0002c0002t0001 | a0001c0001t0001g0017a0001c0001t0001g0086a0001c0001t0001g0118others(6): Show | 9 | 308 | 0.0292 | 12 | c.136 others(31): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CFAP58_chr10_104348833_104460102 | 104396369 | T | TGAGAGAG others(5): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 308 | 0.0033 | 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 | 104399175 | A | AGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 308 | 0.0033 | 12 | c.167 others(29): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CFAP58_chr10_104348833_104460102 | 104439704 | T | TAACAACA others(5): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01891.hp1 others(8): Show |
a0001a0003a0007 | a0001c0001a0003c0005a0007c0010 | a0001c0001t0001a0003c0005t0001a0007c0010t0001 | a0001c0001t0001g0076a0001c0001t0001g0186a0001c0001t0001g0231others(8): Show | 11 | 308 | 0.0357 | 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 | T | TTTTATTT others(5): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG01516.hp1 others(14): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0050a0001c0001t0001g0051a0001c0001t0001g0177others(14): Show | 17 | 308 | 0.0552 | 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 | 104453761 | A | AGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02145.hp1 HG02257.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0076a0001c0001t0001g0241a0001c0001t0001g0242others(3): Show | 6 | 308 | 0.0195 | 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 | 104458576 | A | ATATGTGT others(5): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02723.hp2 HG03139.hp1 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0060a0003c0005t0001g0092a0003c0005t0001g0095 | 3 | 308 | 0.0097 | 12 | c.*40 others(23): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 3475 | chr10 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104458578 | A | ATGTGTGT others(5): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 HG03209.hp2 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0238a0003c0005t0001g0239 | 2 | 308 | 0.0065 | 12 | c.*40 others(23): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 3477 | chr10 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104458624 | A | ATATATAT others(5): Show |
downstream_gene_variant | MODIFIER | HG03471.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0293 | 1 | 308 | 0.0033 | 12 | c.*40 others(23): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 3523 | chr10 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104458624 | A | ATATATAT others(5): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0224 | 1 | 308 | 0.0033 | 12 | c.*40 others(23): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 3523 | chr10 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20054004 | T | TTTTTTTG others(5): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00558.hp1 others(49): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0003a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0028a0001c0001t0001g0040a0001c0001t0002g0035others(49): Show | 52 | 236 | 0.2203 | 12 | c.-37 others(29): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20084401 | C | CCTGCTGC others(5): Show |
intron_variant | MODIFIER | HG03471.hp1 HG06807.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002 | a0001c0001t0003g0127a0002c0002t0002g0134 | 2 | 236 | 0.0085 | 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 | 20106000 | C | CTATACAT others(5): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01074.hp2 HG01168.hp2 others(10): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0008others(1): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0003others(2): Show | a0001c0001t0002g0035a0001c0001t0002g0036a0001c0001t0002g0037others(10): Show | 13 | 236 | 0.0551 | 12 | c.859 others(29): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 8/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20117365 | A | AAAATAAA others(5): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02486.hp2 others(5): Show |
a0001a0005a0012others(1): Show | a0001c0001a0001c0003a0001c0039others(3): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(5): Show | a0001c0001t0003g0127a0001c0001t0005g0171a0001c0001t0007g0008others(5): Show | 8 | 236 | 0.0339 | 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 | 20118253 | G | GTTCCTTT others(5): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02148.hp1 NA18942.hp2 others(1): Show |
a0001a0014 | a0001c0001a0014c0031 | a0001c0001t0001a0001c0001t0002a0014c0031t0002 | a0001c0001t0001g0154a0001c0001t0002g0147a0001c0001t0002g0161others(1): Show | 4 | 236 | 0.0170 | 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 | 20118253 | G | GTTTCTTT others(5): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02451.hp2 HG04199.hp1 |
a0001a0016 | a0001c0001a0001c0007a0016c0033 | a0001c0001t0003a0001c0007t0002a0016c0033t0001 | a0001c0001t0003g0060a0001c0007t0002g0222a0016c0033t0001g0026 | 3 | 236 | 0.0127 | 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 | 20181276 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG01517.hp2 HG01975.hp1 HG02280.hp1 others(2): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0002t0002a0002c0002t0005others(1): Show | a0002c0002t0001g0072a0002c0002t0001g0086a0002c0002t0002g0103others(2): Show | 5 | 236 | 0.0212 | 12 | c.138 others(31): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20269146 | T | TATACACA others(5): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01071.hp1 HG06807.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0015a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0015t0002others(3): Show | a0001c0001t0001g0212a0001c0001t0003g0127a0001c0015t0002g0201others(3): Show | 6 | 236 | 0.0254 | 12 | c.250 others(31): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20269146 | T | TATATACA others(5): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01934.hp2 HG01993.hp2 others(3): Show |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0001a0001c0003t0004a0001c0003t0007others(1): Show | a0001c0003t0001g0164a0001c0003t0001g0199a0001c0003t0004g0004others(3): Show | 6 | 236 | 0.0254 | 12 | c.250 others(31): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20269146 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01433.hp2 HG02895.hp1 |
a0001 | a0001c0003a0001c0012 | a0001c0003t0001a0001c0012t0002a0001c0012t0006 | a0001c0003t0001g0096a0001c0012t0002g0099a0001c0012t0006g0009 | 3 | 236 | 0.0127 | 12 | c.250 others(31): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20269146 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0021 | 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 | |||||
CFAP61_chr20_20047532_20365698 | 20269164 | C | CACACACA others(5): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG02257.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0007t0002 | a0001c0001t0002g0235a0001c0007t0002g0231a0001c0007t0002g0232 | 3 | 236 | 0.0127 | 12 | c.250 others(31): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20294937 | A | AAATAATA others(5): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0019 | a0019c0038 | a0019c0038t0001 | a0019c0038t0001g0113 | 1 | 236 | 0.0042 | 12 | c.321 others(31): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20304272 | C | CTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02723.hp1 HG02809.hp2 others(2): Show |
a0002a0008 | a0002c0002a0002c0009a0008c0020 | a0002c0002t0001a0002c0009t0001a0002c0009t0002others(2): Show | a0002c0002t0001g0234a0002c0009t0001g0105a0002c0009t0002g0104others(2): Show | 5 | 236 | 0.0212 | 12 | c.342 others(31): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20320387 | T | TATAATAT others(5): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0137 | 1 | 236 | 0.0042 | 12 | c.342 others(33): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20320414 | T | TATAATAT others(5): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00558.hp2 others(52): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0006a0001c0026others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0028a0001c0001t0001g0078a0001c0001t0001g0079others(52): Show | 55 | 236 | 0.2331 | 12 | c.342 others(33): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20337498 | G | GTGGGTGG others(5): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00558.hp2 others(38): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0028a0001c0001t0001g0078a0001c0001t0001g0079others(38): Show | 41 | 236 | 0.1737 | 12 | c.342 others(31): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20337514 | A | ATAGATGG others(5): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00558.hp2 others(38): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0028a0001c0001t0001g0078a0001c0001t0001g0079others(38): Show | 41 | 236 | 0.1737 | 12 | c.342 others(31): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP65_chr2_218997846_219046516 | 219000327 | C | CTGTGTGT others(5): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02896.hp2 HG02897.hp1 others(3): Show |
a0004a0005 | a0004c0004a0005c0007 | a0004c0004t0003a0005c0007t0003 | a0004c0004t0003g0197a0005c0007t0003g0184a0005c0007t0003g0185others(3): Show | 6 | 322 | 0.0186 | 12 | c.*26 others(23): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 2518 | chr2 | TogoVar |