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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP47_chrX_35914734_36390317 | 35932257 | TTTC | T | intron_variant | MODIFIER | HG03041.hp1 | a0014 | a0014c0016 | a0014c0016t0001 | a0014c0016t0001g0193 | 1 | 216 | 0.0046 | -3 | c.401 others(20): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 2/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 35936443 | ATTT | A | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00621.hp1 others(54): Show |
a0002a0003a0005others(22): Show | a0002c0002a0002c0013a0002c0067others(27): Show | a0002c0002t0001a0002c0013t0001a0002c0067t0001others(27): Show | a0002c0002t0001g0150a0002c0002t0001g0151a0002c0002t0001g0152others(54): Show | 57 | 216 | 0.2639 | -3 | c.402 others(20): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 2/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 35949171 | GTGT | G | intron_variant | MODIFIER | NA18965.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0118 | 1 | 216 | 0.0046 | -3 | c.656 others(18): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 4/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 35957370 | TATC | T | intron_variant | MODIFIER | NA19085.hp1 | a0013 | a0013c0011 | a0013c0011t0001 | a0013c0011t0001g0172 | 1 | 216 | 0.0046 | -3 | c.141 others(22): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 8/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 35962923 | TGTG | T | intron_variant | MODIFIER | HG04199.hp1 | a0045 | a0045c0056 | a0045c0056t0001 | a0045c0056t0001g0040 | 1 | 216 | 0.0046 | -3 | c.141 others(22): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 8/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 35967932 | CAAT | C | intron_variant | MODIFIER | HG01255.hp1 HG02630.hp2 HG02809.hp2 others(4): Show |
a0007a0011a0014others(2): Show | a0007c0077a0011c0076a0014c0016others(3): Show | a0007c0077t0001a0011c0076t0001a0014c0016t0001others(3): Show | a0007c0077t0001g0140a0011c0076t0001g0141a0014c0016t0001g0193others(4): Show | 7 | 216 | 0.0324 | -3 | c.181 others(20): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 10/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36019525 | CCTG | C | intron_variant | MODIFIER | NA18992.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0150 | 1 | 216 | 0.0046 | -3 | c.355 others(22): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 22/63 | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36037338 | TTTG | T | intron_variant | MODIFIER | HG00558.hp2 HG01934.hp1 HG01952.hp1 others(18): Show |
a0001a0002a0005others(7): Show | a0001c0039a0002c0002a0005c0005others(9): Show | a0001c0039t0001a0002c0002t0001a0005c0005t0001others(9): Show | a0001c0039t0001g0032a0002c0002t0001g0166a0002c0002t0001g0171others(18): Show | 21 | 216 | 0.0972 | -3 | c.381 others(22): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 24/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36041925 | CAAA | C | intron_variant | MODIFIER | HG01891.hp2 HG02559.hp1 HG02615.hp2 others(5): Show |
a0005a0010a0033others(1): Show | a0005c0015a0010c0007a0033c0036others(1): Show | a0005c0015t0001a0010c0007t0001a0033c0036t0001others(1): Show | a0005c0015t0001g0199a0010c0007t0001g0194a0010c0007t0001g0195others(5): Show | 8 | 216 | 0.0370 | -3 | c.400 others(22): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 25/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36063614 | AATT | A | intron_variant | MODIFIER | NA19043.hp1 | a0006 | a0006c0028 | a0006c0028t0001 | a0006c0028t0001g0186 | 1 | 216 | 0.0046 | -3 | c.421 others(22): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 26/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36067659 | ATTT | A | intron_variant | MODIFIER | HG02572.hp1 HG02809.hp1 NA18906.hp1 |
a0011a0016a0037 | a0011c0030a0016c0031a0037c0057 | a0011c0030t0001a0016c0031t0002a0037c0057t0001 | a0011c0030t0001g0185a0016c0031t0002g0202a0037c0057t0001g0177 | 3 | 216 | 0.0139 | -3 | c.431 others(22): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 27/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36073914 | ATGT | A | intron_variant | MODIFIER | HG02257.hp2 HG02622.hp1 |
a0011a0040 | a0011c0049a0040c0050 | a0011c0049t0001a0040c0050t0001 | a0011c0049t0001g0184a0040c0050t0001g0183 | 2 | 216 | 0.0093 | -3 | c.469 others(20): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 29/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36077183 | CTTT | C | intron_variant | MODIFIER | HG00609.hp1 HG01069.hp1 HG01074.hp1 others(35): Show |
a0001a0004a0009others(2): Show | a0001c0001a0001c0019a0001c0039others(4): Show | a0001c0001t0001a0001c0019t0001a0001c0039t0001others(4): Show | a0001c0001t0001g0024a0001c0001t0001g0026a0001c0001t0001g0027others(35): Show | 38 | 216 | 0.1759 | -3 | c.469 others(22): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 29/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36082562 | CTTA | C | intron_variant | MODIFIER | HG02886.hp1 | a0050 | a0050c0062 | a0050c0062t0001 | a0050c0062t0001g0216 | 1 | 216 | 0.0046 | -3 | c.469 others(22): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 29/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36132020 | CAAT | C | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02559.hp1 others(9): Show |
a0010a0011a0021others(3): Show | a0010c0007a0011c0046a0011c0049others(4): Show | a0010c0007t0001a0011c0046t0001a0011c0049t0001others(4): Show | a0010c0007t0001g0194a0010c0007t0001g0195a0010c0007t0001g0196others(9): Show | 12 | 216 | 0.0556 | -3 | c.532 others(22): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 33/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36162747 | ACAC | A | intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 216 | 0.0046 | -3 | c.602 others(22): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 39/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36165859 | CCTT | C | intron_variant | MODIFIER | HG02886.hp1 | a0050 | a0050c0062 | a0050c0062t0001 | a0050c0062t0001g0216 | 1 | 216 | 0.0046 | -3 | c.602 others(22): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 39/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36212648 | GATA | G | intron_variant | MODIFIER | HG01891.hp1 HG02723.hp2 HG02809.hp2 others(4): Show |
a0007a0015a0022others(1): Show | a0007c0006a0007c0077a0015c0018others(3): Show | a0007c0006t0001a0007c0077t0001a0015c0018t0001others(3): Show | a0007c0006t0001g0206a0007c0077t0001g0140a0015c0018t0001g0007others(4): Show | 7 | 216 | 0.0324 | -3 | c.681 others(22): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 45/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36226465 | CTCT | C | intron_variant | MODIFIER | HG01255.hp1 HG01346.hp2 HG01884.hp1 others(49): Show |
a0005a0006a0007others(18): Show | a0005c0005a0005c0015a0006c0008others(28): Show | a0005c0005t0001a0005c0015t0001a0006c0008t0001others(28): Show | a0005c0005t0001g0006a0005c0005t0001g0008a0005c0005t0001g0009others(49): Show | 52 | 216 | 0.2407 | -3 | c.681 others(22): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 45/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36262101 | ATAG | A | intron_variant | MODIFIER | NA20300.hp2 | a0017 | a0017c0020 | a0017c0020t0001 | a0017c0020t0001g0212 | 1 | 216 | 0.0046 | -3 | c.744 others(24): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 49/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36328816 | CAAA | C | intron_variant | MODIFIER | HG01884.hp2 HG02615.hp1 HG02622.hp2 others(4): Show |
a0006a0016a0038others(2): Show | a0006c0028a0016c0031a0016c0052others(4): Show | a0006c0028t0001a0016c0031t0002a0016c0052t0001others(4): Show | a0006c0028t0001g0186a0016c0031t0002g0202a0016c0052t0001g0017others(4): Show | 7 | 216 | 0.0324 | -3 | c.844 others(22): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 57/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36338035 | ATTT | A | intron_variant | MODIFIER | HG02622.hp2 HG03195.hp1 NA18906.hp1 |
a0016a0038a0053 | a0016c0031a0038c0042a0053c0061 | a0016c0031t0002a0038c0042t0001a0053c0061t0002 | a0016c0031t0002g0202a0038c0042t0001g0011a0053c0061t0002g0214 | 3 | 216 | 0.0139 | -3 | c.844 others(24): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 57/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36341037 | CTTT | C | intron_variant | MODIFIER | HG01884.hp2 HG02615.hp1 HG02622.hp2 others(2): Show |
a0016a0038a0053 | a0016c0031a0016c0052a0016c0055others(2): Show | a0016c0031t0002a0016c0052t0001a0016c0055t0002others(2): Show | a0016c0031t0002g0202a0016c0052t0001g0017a0016c0055t0002g0191others(2): Show | 5 | 216 | 0.0232 | -3 | c.844 others(22): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 57/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36355338 | TATC | T | intron_variant | MODIFIER | HG02809.hp1 | a0037 | a0037c0057 | a0037c0057t0001 | a0037c0057t0001g0177 | 1 | 216 | 0.0046 | -3 | c.885 others(22): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 60/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36365069 | ATCT | A | intron_variant | MODIFIER | HG02922.hp1 | a0031 | a0031c0034 | a0031c0034t0001 | a0031c0034t0001g0107 | 1 | 216 | 0.0046 | -3 | c.902 others(22): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 61/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36366631 | CCTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02145.hp1 others(9): Show |
a0003a0007a0022others(3): Show | a0003c0074a0007c0006a0007c0077others(4): Show | a0003c0074t0001a0007c0006t0001a0007c0077t0001others(4): Show | a0003c0074t0001g0139a0007c0006t0001g0178a0007c0006t0001g0179others(9): Show | 12 | 216 | 0.0556 | -3 | c.902 others(20): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 61/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9589732 | CAAA | C | intron_variant | MODIFIER | HG01175.hp1 HG01192.hp2 HG01256.hp2 others(12): Show |
a0001a0002a0006others(1): Show | a0001c0002a0002c0001a0006c0014others(1): Show | a0001c0002t0001a0002c0001t0001a0006c0014t0001others(1): Show | a0001c0002t0001g0020a0001c0002t0001g0026a0001c0002t0001g0065others(12): Show | 15 | 316 | 0.0475 | -3 | c.407 others(20): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9622572 | AGAT | A | intron_variant | MODIFIER | HG01109.hp2 HG02280.hp2 HG02572.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021a0001c0002t0001g0031a0001c0002t0001g0084others(2): Show | 5 | 316 | 0.0158 | -3 | c.102 others(22): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9636192 | AAAG | A | intron_variant | MODIFIER | HG00423.hp1 HG00639.hp2 HG01069.hp2 others(20): Show |
a0001a0002a0008 | a0001c0002a0001c0012a0002c0001others(1): Show | a0001c0002t0001a0001c0012t0001a0002c0001t0001others(1): Show | a0001c0002t0001g0021a0001c0002t0001g0073a0001c0002t0001g0115others(20): Show | 23 | 316 | 0.0728 | -3 | c.147 others(20): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP53_chr18_50222193_50271495 | 50229731 | TTTC | T | intron_variant | MODIFIER | HG02109.hp2 HG02615.hp2 HG02622.hp2 others(6): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0005 | a0001c0001t0001a0001c0004t0001a0004c0005t0001 | a0001c0001t0001g0175a0001c0001t0001g0360a0001c0004t0001g0005others(5): Show | 9 | 402 | 0.0224 | -3 | c.131 others(22): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | ||||||
CFAP53_chr18_50222193_50271495 | 50245062 | CAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG01891.hp2 others(22): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0013a0001c0001t0001g0197a0001c0001t0001g0198others(21): Show | 25 | 402 | 0.0622 | -3 | c.997 others(20): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 5/7 | chr18 | TogoVar | ||||||
CFAP53_chr18_50222193_50271495 | 50249203 | CAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00609.hp2 others(31): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0013a0001c0001t0001g0082a0001c0001t0001g0175others(29): Show | 34 | 402 | 0.0846 | -3 | c.996 others(20): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 5/7 | chr18 | TogoVar | ||||||
CFAP53_chr18_50222193_50271495 | 50268739 | AAAG | A | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG02015.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0203a0001c0001t0001g0204others(16): Show | 20 | 402 | 0.0498 | -3 | c.-23 others(14): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 2245 | chr18 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96486142 | TTTC | T | upstream_gene_variant | MODIFIER | HG00423.hp2 HG02145.hp1 HG02486.hp2 others(8): Show |
a0009a0012a0015others(3): Show | a0009c0008a0012c0021a0015c0030others(4): Show | a0009c0008t0001a0012c0021t0001a0015c0030t0001others(4): Show | a0009c0008t0001g0197a0009c0008t0001g0198a0009c0008t0001g0199others(8): Show | 11 | 268 | 0.0410 | -3 | c.-34 others(14): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 3434 | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96486150 | TTTC | T | upstream_gene_variant | MODIFIER | HG00423.hp2 HG02145.hp1 HG02486.hp2 others(6): Show |
a0009a0012a0015others(1): Show | a0009c0008a0012c0021a0015c0030others(2): Show | a0009c0008t0001a0012c0021t0001a0015c0030t0001others(2): Show | a0009c0008t0001g0197a0009c0008t0001g0198a0009c0008t0001g0199others(6): Show | 9 | 268 | 0.0336 | -3 | c.-34 others(14): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 3426 | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96588680 | CTGT | C | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00423.hp2 others(93): Show |
a0003a0004a0005others(23): Show | a0003c0002a0003c0016a0004c0042others(31): Show | a0003c0002t0001a0003c0002t0004a0003c0016t0001others(33): Show | a0003c0002t0001g0210a0003c0002t0001g0211a0003c0002t0001g0215others(93): Show | 96 | 268 | 0.3582 | -3 | c.307 others(20): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 22/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96589671 | AATC | A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(196): Show |
a0001a0003a0004others(44): Show | a0001c0001a0001c0012a0001c0047others(66): Show | a0001c0001t0001a0001c0012t0001a0001c0047t0001others(68): Show | a0001c0001t0001g0004a0001c0001t0001g0018a0001c0001t0001g0021others(196): Show | 199 | 268 | 0.7425 | -3 | c.321 others(20): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 23/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96613936 | AAGG | A | intron_variant | MODIFIER | HG00280.hp2 HG01123.hp1 HG01256.hp1 others(13): Show |
a0002a0008a0016others(5): Show | a0002c0032a0008c0009a0008c0055others(8): Show | a0002c0032t0001a0008c0009t0001a0008c0055t0001others(8): Show | a0002c0032t0001g0222a0008c0009t0001g0019a0008c0009t0001g0027others(13): Show | 16 | 268 | 0.0597 | -3 | c.364 others(22): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 26/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96621875 | GTTT | G | intron_variant | MODIFIER | HG01106.hp2 HG02559.hp1 HG02976.hp1 others(2): Show |
a0005a0007a0012others(1): Show | a0005c0020a0007c0028a0007c0077others(2): Show | a0005c0020t0001a0007c0028t0001a0007c0077t0001others(2): Show | a0005c0020t0001g0142a0007c0028t0001g0182a0007c0077t0001g0183others(2): Show | 5 | 268 | 0.0187 | -3 | c.377 others(20): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 27/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96634046 | CTTT | C | intron_variant | MODIFIER | HG00544.hp2 HG01123.hp2 HG01952.hp2 others(18): Show |
a0005a0020a0035others(1): Show | a0005c0004a0005c0015a0005c0020others(4): Show | a0005c0004t0001a0005c0015t0001a0005c0020t0001others(4): Show | a0005c0004t0001g0010a0005c0004t0001g0011a0005c0004t0001g0012others(18): Show | 21 | 268 | 0.0784 | -3 | c.431 others(22): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 32/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96636899 | GATA | G | intron_variant | MODIFIER | HG00280.hp2 HG02083.hp1 HG02129.hp1 others(8): Show |
a0008a0016a0031others(1): Show | a0008c0009a0008c0055a0008c0087others(3): Show | a0008c0009t0001a0008c0055t0001a0008c0087t0001others(3): Show | a0008c0009t0001g0019a0008c0009t0001g0027a0008c0009t0001g0028others(8): Show | 11 | 268 | 0.0410 | -3 | c.431 others(22): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 32/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96683791 | TTTG | T | intron_variant | MODIFIER | HG02976.hp2 HG03209.hp2 HG03486.hp1 others(1): Show |
a0023a0039a0051 | a0023c0026a0039c0039a0051c0083 | a0023c0026t0001a0039c0039t0001a0051c0083t0001 | a0023c0026t0001g0031a0023c0026t0001g0047a0039c0039t0001g0040others(1): Show | 4 | 268 | 0.0149 | -3 | c.571 others(20): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 40/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96733542 | GTTT | G | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(43): Show |
a0002a0004a0012others(8): Show | a0002c0003a0002c0007a0002c0032others(14): Show | a0002c0003t0001a0002c0007t0001a0002c0032t0001others(14): Show | a0002c0003t0001g0121a0002c0003t0001g0122a0002c0003t0001g0127others(43): Show | 46 | 268 | 0.1716 | -3 | c.696 others(22): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 50/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96742028 | TAGC | T | intron_variant | MODIFIER | HG02976.hp2 HG03209.hp2 HG03486.hp1 |
a0023a0039 | a0023c0026a0039c0039 | a0023c0026t0001a0039c0039t0001 | a0023c0026t0001g0031a0023c0026t0001g0047a0039c0039t0001g0040 | 3 | 268 | 0.0112 | -3 | c.707 others(20): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 51/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96779107 | CAAA | C | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02258.hp1 others(17): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0003a0002c0007others(7): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0002others(8): Show | a0001c0001t0001g0084a0001c0001t0001g0085a0001c0001t0001g0087others(17): Show | 20 | 268 | 0.0746 | -3 | c.828 others(22): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 60/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96821702 | TAAA | T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG02622.hp2 others(8): Show |
a0002a0003a0004others(2): Show | a0002c0003a0003c0002a0003c0016others(4): Show | a0002c0003t0001a0003c0002t0001a0003c0016t0001others(4): Show | a0002c0003t0001g0133a0002c0003t0001g0156a0003c0002t0001g0216others(8): Show | 11 | 268 | 0.0410 | -3 | c.909 others(22): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96825269 | TAAC | T | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(86): Show |
a0002a0003a0004others(18): Show | a0002c0003a0002c0058a0002c0091others(30): Show | a0002c0003t0001a0002c0058t0001a0002c0091t0001others(32): Show | a0002c0003t0001g0133a0002c0003t0001g0143a0002c0003t0001g0155others(86): Show | 89 | 268 | 0.3321 | -3 | c.909 others(22): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96825396 | ATGT | A | intron_variant | MODIFIER | NA18998.hp1 NA19012.hp1 NA19084.hp1 |
a0002a0025 | a0002c0003a0025c0029 | a0002c0003t0001a0025c0029t0001 | a0002c0003t0001g0151a0025c0029t0001g0001a0025c0029t0001g0176 | 3 | 268 | 0.0112 | -3 | c.909 others(22): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96826865 | ATAT | A | intron_variant | MODIFIER | HG00544.hp2 HG01123.hp2 HG01358.hp1 others(17): Show |
a0005a0035a0055 | a0005c0004a0005c0015a0005c0020others(3): Show | a0005c0004t0001a0005c0015t0001a0005c0020t0001others(3): Show | a0005c0004t0001g0010a0005c0004t0001g0011a0005c0004t0001g0012others(17): Show | 20 | 268 | 0.0746 | -3 | c.909 others(22): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96840619 | TTTC | T | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(56): Show |
a0002a0003a0004others(9): Show | a0002c0003a0002c0058a0002c0091others(17): Show | a0002c0003t0001a0002c0058t0001a0002c0091t0001others(18): Show | a0002c0003t0001g0133a0002c0003t0001g0143a0002c0003t0001g0155others(56): Show | 59 | 268 | 0.2202 | -3 | c.917 others(24): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 66/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |