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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP299_chr4_80330730_80968750 | 80562657 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG02647.hp1 NA18522.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0027a0001c0003t0001g0086 | 2 | 96 | 0.0208 | 9 | c.243 others(28): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80800479 | T | TGATATAT others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02486.hp2 HG02976.hp2 others(3): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0006 | a0001c0003t0001a0001c0003t0002a0002c0002t0001others(1): Show | a0001c0003t0001g0038a0001c0003t0002g0084a0001c0003t0002g0090others(3): Show | 6 | 96 | 0.0625 | 9 | c.334 others(28): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | chr4 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104129491 | A | AGATGGTC others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00558.hp1 others(119): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0003a0001c0018others(14): Show | a0001c0001t0001a0001c0003t0001a0001c0018t0001others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(118): Show | 122 | 306 | 0.3987 | 9 | c.*64 others(18): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 396 | chr10 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113315159 | T | TATCCAAT others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02451.hp2 HG02976.hp1 others(4): Show |
a0003a0019a0032 | a0003c0007a0019c0018a0032c0028 | a0003c0007t0035a0003c0007t0056a0003c0007t0060others(3): Show | a0003c0007t0035g0047a0003c0007t0035g0051a0003c0007t0056g0052others(4): Show | 7 | 348 | 0.0201 | 9 | c.451 others(28): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 28/34 | chr3 | TogoVar | ||||||
CFAP45_chr1_159867364_159905165 | 159878753 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02027.hp1 HG03130.hp2 others(5): Show |
a0001a0002a0016 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(2): Show | a0001c0001t0001g0069a0001c0001t0001g0142a0001c0002t0001g0107others(3): Show | 8 | 410 | 0.0195 | 9 | c.104 others(28): Show |
CFAP45 | ENSG00000213085.10 | transcript | ENST00000368099.9 | protein_coding | 8/11 | chr1 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132887618 | C | CCTCTCCT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00642.hp2 others(7): Show |
a0004a0033a0041 | a0004c0005a0033c0048a0041c0049 | a0004c0005t0001a0004c0005t0002a0033c0048t0001others(1): Show | a0004c0005t0001g0220a0004c0005t0001g0221a0004c0005t0001g0222others(7): Show | 10 | 246 | 0.0407 | 9 | c.330 others(28): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35960380 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02109.hp1 HG02976.hp2 others(5): Show |
a0002a0005a0009others(2): Show | a0002c0002a0005c0005a0005c0015others(3): Show | a0002c0002t0001a0005c0005t0001a0005c0015t0001others(3): Show | a0002c0002t0001g0151a0005c0005t0001g0012a0005c0005t0001g0013others(5): Show | 8 | 216 | 0.0370 | 9 | c.141 others(28): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 8/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36037338 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG03041.hp1 NA18940.hp1 NA19240.hp2 |
a0014a0036 | a0014c0016a0036c0040 | a0014c0016t0001a0036c0040t0001 | a0014c0016t0001g0193a0014c0016t0001g0200a0036c0040t0001g0021 | 3 | 216 | 0.0139 | 9 | c.381 others(28): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 24/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9589801 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00621.hp2 others(71): Show |
a0001a0002a0008 | a0001c0002a0001c0005a0002c0001others(2): Show | a0001c0002t0001a0001c0005t0004a0002c0001t0001others(4): Show | a0001c0002t0001g0024a0001c0002t0001g0031a0001c0002t0001g0048others(71): Show | 74 | 316 | 0.2342 | 9 | c.407 others(26): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9598760 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01978.hp1 HG02135.hp1 others(8): Show |
a0001a0002 | a0001c0002a0001c0005a0002c0001 | a0001c0002t0001a0001c0005t0001a0002c0001t0002 | a0001c0002t0001g0011a0001c0002t0001g0073a0001c0002t0001g0076others(8): Show | 11 | 316 | 0.0348 | 9 | c.636 others(24): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9636183 | G | GAAAGAAA others(2): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02486.hp2 HG02818.hp2 others(4): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0007a0001c0002t0001g0034a0001c0002t0001g0044others(4): Show | 7 | 316 | 0.0222 | 9 | c.147 others(26): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96485709 | C | CCCCTCCC others(2): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(170): Show |
a0001a0002a0003others(42): Show | a0001c0001a0001c0086a0002c0003others(65): Show | a0001c0001t0001a0001c0086t0001a0002c0003t0001others(68): Show | a0001c0001t0001g0165a0001c0001t0001g0166a0001c0086t0001g0148others(170): Show | 173 | 268 | 0.6455 | 9 | c.-39 others(20): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 3867 | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96621875 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01952.hp2 HG02071.hp2 others(8): Show |
a0002a0005a0020others(2): Show | a0002c0003a0002c0007a0005c0020others(3): Show | a0002c0003t0001a0002c0003t0002a0002c0007t0001others(4): Show | a0002c0003t0001g0169a0002c0003t0001g0170a0002c0003t0001g0171others(8): Show | 11 | 268 | 0.0410 | 9 | c.377 others(26): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 27/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96647472 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02109.hp2 HG02896.hp1 others(4): Show |
a0001a0004a0006 | a0001c0001a0004c0011a0006c0006 | a0001c0001t0001a0004c0011t0001a0006c0006t0001 | a0001c0001t0001g0058a0001c0001t0001g0069a0001c0001t0001g0078others(4): Show | 7 | 268 | 0.0261 | 9 | c.454 others(26): 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(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01168.hp1 HG01496.hp2 others(2): Show |
a0009a0010a0022others(1): Show | a0009c0008a0010c0013a0022c0045others(1): Show | a0009c0008t0001a0010c0013t0001a0022c0045t0001others(1): Show | a0009c0008t0001g0206a0010c0013t0001g0185a0010c0013t0001g0188others(2): Show | 5 | 268 | 0.0187 | 9 | c.510 others(28): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 36/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96709701 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00609.hp2 others(36): Show |
a0002a0003a0004others(14): Show | a0002c0003a0002c0058a0003c0002others(20): Show | a0002c0003t0001a0002c0058t0001a0003c0002t0001others(20): Show | a0002c0003t0001g0121a0002c0003t0001g0127a0002c0003t0001g0133others(36): Show | 39 | 268 | 0.1455 | 9 | c.672 others(26): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 48/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96755666 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01123.hp2 HG01358.hp1 others(15): Show |
a0005a0035a0055 | a0005c0004a0005c0015a0005c0020others(3): Show | a0005c0004t0001a0005c0015t0001a0005c0020t0001others(3): Show | a0005c0004t0001g0010a0005c0004t0001g0011a0005c0004t0001g0012others(15): Show | 18 | 268 | 0.0672 | 9 | c.784 others(26): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 56/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96798447 | T | TAACTCTC others(2): Show |
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 | 9 | c.885 others(28): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 63/67 | chr12 | TogoVar | ||||||
CFAP57_chr1_43167330_43259358 | 43180239 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01978.hp2 NA18942.hp1 others(1): Show |
a0003 | a0003c0002a0003c0004 | a0003c0002t0001a0003c0004t0001 | a0003c0002t0001g0257a0003c0004t0001g0255a0003c0004t0001g0256others(1): Show | 4 | 308 | 0.0130 | 9 | c.158 others(26): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 2/22 | chr1 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20084401 | C | CCTGCTGC others(2): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01884.hp1 HG02145.hp1 others(7): Show |
a0001a0005a0011others(2): Show | a0001c0001a0001c0039a0005c0043others(3): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(5): Show | a0001c0001t0003g0124a0001c0001t0005g0126a0001c0001t0005g0129others(7): Show | 10 | 236 | 0.0424 | 9 | c.567 others(26): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20294937 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01993.hp2 HG02257.hp2 HG02300.hp2 others(1): Show |
a0001a0024 | a0001c0001a0001c0003a0024c0029 | a0001c0001t0002a0001c0003t0001a0024c0029t0003 | a0001c0001t0002g0235a0001c0003t0001g0164a0001c0003t0001g0196others(1): Show | 4 | 236 | 0.0170 | 9 | c.321 others(28): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20320403 | A | AATATATT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(34): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(16): Show | a0001c0001t0001g0206a0001c0001t0001g0212a0001c0001t0001g0228others(34): Show | 37 | 236 | 0.1568 | 9 | c.342 others(30): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20320471 | T | TATATATT others(2): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02145.hp1 HG02486.hp2 others(2): Show |
a0001a0022a0024 | a0001c0001a0001c0039a0022c0042others(1): Show | a0001c0001t0003a0001c0039t0003a0022c0042t0003others(1): Show | a0001c0001t0003g0119a0001c0001t0003g0139a0001c0039t0003g0125others(2): Show | 5 | 236 | 0.0212 | 9 | c.342 others(30): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20320528 | T | TATATATG others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00558.hp2 others(63): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0003a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0028a0001c0001t0001g0078a0001c0001t0001g0079others(63): Show | 66 | 236 | 0.2797 | 9 | c.342 others(30): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132521778 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00609.hp1 others(36): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0057a0001c0001t0001g0079a0001c0001t0001g0080others(36): Show | 39 | 322 | 0.1211 | 9 | c.525 others(28): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132533466 | G | GCTGCGTC others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02615.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0137a0001c0001t0001g0153a0001c0001t0001g0174others(10): Show | 13 | 322 | 0.0404 | 9 | c.525 others(26): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP91_chr3_119698022_119772102 | 119722195 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02723.hp2 HG02965.hp2 others(3): Show |
a0005a0010 | a0005c0008a0010c0021 | a0005c0008t0007a0010c0021t0007 | a0005c0008t0007g0003a0005c0008t0007g0354a0005c0008t0007g0355others(1): Show | 6 | 386 | 0.0155 | 9 | c.683 others(26): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 6/17 | chr3 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69843511 | T | TCCTCCCC others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01070.hp2 HG01071.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0001a0002c0008t0001 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(8): Show | 12 | 380 | 0.0316 | 9 | c.153 others(26): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP97D2_chr13_114174257_114228085 | 114222561 | A | ACAGATTC others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00639.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0007 | a0001c0001t0005g0015a0001c0001t0005g0016a0001c0001t0005g0036others(37): Show | 45 | 400 | 0.1125 | 9 | c.*54 others(16): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 4/4 | 55 | chr13 | TogoVar | |||||
CFAP97_chr4_185154665_185209000 | 185198453 | A | AAAAAGAA others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG02615.hp1 others(4): Show |
a0001 | a0001c0004a0001c0007 | a0001c0004t0010a0001c0004t0014a0001c0007t0011 | a0001c0004t0010g0143a0001c0004t0010g0144a0001c0004t0010g0146others(3): Show | 7 | 350 | 0.0200 | 9 | c.-17 others(26): Show |
CFAP97 | ENSG00000164323.15 | transcript | ENST00000458385.7 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
CFAP99_chr4_2413955_2468002 | 2446368 | G | GTTATTAT others(2): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02258.hp1 HG02280.hp1 others(7): Show |
a0001 | a0001c0002a0001c0003a0001c0006 | a0001c0002t0001a0001c0003t0001a0001c0006t0001others(1): Show | a0001c0002t0001g0004a0001c0002t0001g0011a0001c0002t0001g0053others(5): Show | 10 | 350 | 0.0286 | 9 | c.642 others(26): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFHR4_chr1_196883052_196923633 | 196894886 | T | TAACAACA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(50): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0018 | a0001c0001t0001a0002c0002t0001a0009c0018t0001 | a0001c0001t0001g0072a0002c0002t0001g0002a0002c0002t0001g0005others(21): Show | 53 | 350 | 0.1514 | 9 | c.58+ others(24): Show |
CFHR4 | ENSG00000134365.15 | transcript | ENST00000608469.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFHR4_chr1_196883052_196923633 | 196894889 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(270): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0010a0002c0002others(9): Show | a0001c0001t0001a0001c0010t0001a0002c0002t0001others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(133): Show | 273 | 350 | 0.7800 | 9 | c.58+ others(24): Show |
CFHR4 | ENSG00000134365.15 | transcript | ENST00000608469.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFI_chr4_109735695_109806999 | 109753128 | A | ATTTATAT others(2): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01243.hp1 HG02280.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003 | a0001c0001t0001g0018a0001c0002t0001g0054a0001c0002t0001g0119others(5): Show | 8 | 354 | 0.0226 | 9 | c.905 others(24): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109777522 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01433.hp1 HG01928.hp1 others(9): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0003c0004t0001 | a0001c0001t0001g0174a0001c0001t0001g0275a0001c0001t0001g0276others(9): Show | 12 | 354 | 0.0339 | 9 | c.58- others(26): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 1/12 | chr4 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201114047 | T | TATATATA others(2): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 HG04115.hp2 |
a0001 | a0001c0002 | a0001c0002t0014a0001c0002t0021 | a0001c0002t0014g0092a0001c0002t0021g0067 | 2 | 234 | 0.0086 | 9 | c.-25 others(20): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2116 | chr2 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201158849 | C | CATTATTA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00609.hp2 others(22): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0007a0001c0002t0010others(14): Show | a0001c0002t0003g0003a0001c0002t0003g0080a0001c0002t0003g0087others(20): Show | 25 | 234 | 0.1068 | 9 | c.794 others(26): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CGAS_chr6_73418711_73457297 | 73453568 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00597.hp2 others(14): Show |
a0001a0002a0005 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0013a0001c0002t0016a0001c0002t0043others(5): Show | a0001c0002t0013g0035a0001c0002t0016g0012a0001c0002t0043g0067others(13): Show | 17 | 410 | 0.0415 | 9 | c.-13 others(20): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1272 | chr6 | TogoVar | ||||||
CGB1_chr19_49030569_49041895 | 49035137 | A | ATATTATT others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00597.hp2 others(47): Show |
a0000a0001a0002others(1): Show | a0000c0003a0001c0001a0001c0005others(2): Show | a0000c0003t0004a0001c0001t0001a0001c0001t0002others(5): Show | a0000c0003t0004g0008a0001c0001t0001g0002a0001c0001t0001g0007others(7): Show | 50 | 376 | 0.1330 | 9 | c.*47 others(18): Show |
CGB1 | ENSG00000267631.5 | transcript | ENST00000301407.8 | protein_coding | 431 | chr19 | TogoVar | ||||||
CGB7_chr19_49049274_49062749 | 49060036 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG01255.hp2 HG01346.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0010 | a0001c0001t0002a0001c0001t0009a0001c0001t0012others(3): Show | a0001c0001t0002g0002a0001c0001t0009g0015a0001c0001t0012g0019others(3): Show | 8 | 422 | 0.0190 | 9 | c.-39 others(20): Show |
CGB7 | ENSG00000196337.14 | transcript | ENST00000684222.1 | protein_coding | 2288 | chr19 | TogoVar | ||||||
CGGBP1_chr3_88046950_88064005 | 88050344 | A | ATTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(38): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0027others(5): Show | 41 | 358 | 0.1145 | 9 | c.*51 others(20): Show |
CGGBP1 | ENSG00000163320.12 | transcript | ENST00000482016.6 | protein_coding | 1605 | chr3 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57383299 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG01070.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0015others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0129a0001c0001t0001g0131a0001c0001t0002g0128others(11): Show | 14 | 294 | 0.0476 | 9 | c.-16 others(26): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57414661 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG02602.hp2 HG03239.hp2 HG03490.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0040 | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(1): Show | a0001c0001t0001g0165a0001c0001t0001g0189a0001c0001t0002g0070others(3): Show | 6 | 294 | 0.0204 | 9 | c.-15 others(28): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57442182 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG01123.hp2 others(9): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0004c0025others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0049a0001c0001t0001g0234a0001c0001t0002g0060others(9): Show | 12 | 294 | 0.0408 | 9 | c.169 others(26): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57470256 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01109.hp1 others(23): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0002c0038others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0002g0067others(23): Show | 26 | 294 | 0.0884 | 9 | c.240 others(28): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGN_chr1_151506387_151543692 | 151527950 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01071.hp2 HG01255.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0016a0002c0002t0002g0009a0002c0002t0002g0063others(2): Show | 10 | 382 | 0.0262 | 9 | c.189 others(26): Show |
CGN | ENSG00000143375.15 | transcript | ENST00000271636.12 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CGN_chr1_151506387_151543692 | 151527950 | A | ATATATTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00673.hp1 HG01169.hp1 others(71): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0004a0001c0009others(9): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0024a0001c0001t0001g0025others(43): Show | 74 | 382 | 0.1937 | 9 | c.189 others(26): Show |
CGN | ENSG00000143375.15 | transcript | ENST00000271636.12 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CGN_chr1_151506387_151543692 | 151527950 | A | ATATTTTT others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01256.hp2 HG02027.hp1 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0002c0002t0002a0004c0005t0003 | a0001c0001t0001g0081a0002c0002t0002g0010a0002c0002t0002g0065others(1): Show | 7 | 382 | 0.0183 | 9 | c.189 others(26): Show |
CGN | ENSG00000143375.15 | transcript | ENST00000271636.12 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CGREF1_chr2_27095594_27124128 | 27116924 | T | TCTCTCTC others(2): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03704.hp1 NA18956.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267a0001c0001t0001g0268a0001c0001t0001g0269 | 3 | 352 | 0.0085 | 9 | c.-12 others(26): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4402662 | G | GGCGGCAG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show |
a0001a0006a0013 | a0001c0001a0001c0003a0006c0008others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(6): Show | a0001c0001t0003g0116a0001c0001t0003g0117a0001c0001t0003g0118others(56): Show | 62 | 384 | 0.1615 | 9 | c.-95 others(16): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 1/15 | 86 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |