| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CFAP210_chr2_169640425_169699405 | 169653030 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | NA18993.hp2 NA19000.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0320a0002c0002t0002g0079 | 2 | 390 | 0.0051 | -15 | c.959 others(32): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
| CFAP221_chr2_119539449_119661661 | 119589189 | CCACCAGT others(8): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp1 HG01168.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0022a0002c0002t0001g0219a0002c0002t0001g0220others(1): Show | 4 | 226 | 0.0177 | -15 | c.631 others(32): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CFAP251_chr12_121913592_122008919 | 121926021 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG02145.hp2 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0347 | 1 | 354 | 0.0028 | -15 | c.747 others(32): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CFAP251_chr12_121913592_122008919 | 121974691 | AGGTTTTC others(8): Show |
A | intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 354 | 0.0028 | -15 | c.277 others(32): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CFAP251_chr12_121913592_122008919 | 122008460 | TTTATTTT others(8): Show |
T | downstream_gene_variant | MODIFIER | HG00642.hp1 | a0013 | a0013c0016 | a0013c0016t0001 | a0013c0016t0001g0098 | 1 | 354 | 0.0028 | -15 | c.*46 others(26): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 4542 | chr12 | TogoVar | ||||||
| CFAP299_chr4_80330730_80968750 | 80800385 | AATATATT others(8): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG03041.hp1 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001 | a0001c0003t0001g0038a0002c0002t0001g0002 | 2 | 96 | 0.0208 | -15 | c.334 others(34): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CFAP418_chr8_95239913_95274201 | 95268751 | CGGGCGGG others(8): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG03209.hp1 others(4): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0002t0020a0002c0002t0023others(1): Show | a0002c0002t0001g0148a0002c0002t0001g0151a0002c0002t0020g0150others(3): Show | 7 | 388 | 0.0180 | -15 | c.155 others(30): Show |
CFAP418 | ENSG00000156172.6 | transcript | ENST00000286688.6 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
| CFAP43_chr10_104124888_104237364 | 104190135 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 306 | 0.0033 | -15 | c.154 others(34): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 12/37 | chr10 | TogoVar | ||||||
| CFAP43_chr10_104124888_104237364 | 104200628 | ACCACTGT others(8): Show |
A | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 306 | 0.0033 | -15 | c.109 others(34): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 8/37 | chr10 | TogoVar | ||||||
| CFAP44_chr3_113281930_113446493 | 113370219 | AACTCATT others(8): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG02965.hp2 |
a0003 | a0003c0019 | a0003c0019t0014 | a0003c0019t0014g0166a0003c0019t0014g0167 | 2 | 348 | 0.0058 | -15 | c.244 others(34): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 18/34 | chr3 | TogoVar | ||||||
| CFAP45_chr1_159867364_159905165 | 159878753 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG02622.hp1 HG02965.hp2 others(2): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0011a0003c0004t0001g0137 | 5 | 410 | 0.0122 | -15 | c.104 others(34): Show |
CFAP45 | ENSG00000213085.10 | transcript | ENST00000368099.9 | protein_coding | 8/11 | chr1 | TogoVar | ||||||
| CFAP46_chr10_132803392_132947570 | 132813463 | CCTGCAGT others(8): Show |
C | intron_variant | MODIFIER | HG03130.hp1 HG03453.hp2 |
a0012a0072 | a0012c0076a0072c0075 | a0012c0076t0001a0072c0075t0001 | a0012c0076t0001g0131a0072c0075t0001g0235 | 2 | 246 | 0.0081 | -15 | c.738 others(32): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 54/57 | chr10 | TogoVar | ||||||
| CFAP46_chr10_132803392_132947570 | 132888590 | GCCTGCAC others(8): Show |
G | intron_variant | MODIFIER | HG02300.hp1 | a0006 | a0006c0004 | a0006c0004t0002 | a0006c0004t0002g0108 | 1 | 246 | 0.0041 | -15 | c.330 others(34): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | ||||||
| CFAP46_chr10_132803392_132947570 | 132888624 | TCACCCCT others(8): Show |
T | intron_variant | MODIFIER | NA18960.hp2 | a0011 | a0011c0010 | a0011c0010t0001 | a0011c0010t0001g0202 | 1 | 246 | 0.0041 | -15 | c.330 others(34): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | ||||||
| CFAP46_chr10_132803392_132947570 | 132888695 | TCACCCCT others(8): Show |
T | intron_variant | MODIFIER | HG01257.hp2 | a0012 | a0012c0025 | a0012c0025t0002 | a0012c0025t0002g0014 | 1 | 246 | 0.0041 | -15 | c.330 others(34): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | ||||||
| CFAP46_chr10_132803392_132947570 | 132888727 | ACCTGCCA others(8): Show |
A | intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067 | 1 | 246 | 0.0041 | -15 | c.330 others(34): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | ||||||
| CFAP46_chr10_132803392_132947570 | 132943433 | GAGGCCCA others(8): Show |
G | upstream_gene_variant | MODIFIER | HG01169.hp1 HG02486.hp2 HG03017.hp1 others(1): Show |
a0025a0050a0051 | a0025c0033a0050c0104a0051c0105 | a0025c0033t0001a0025c0033t0003a0050c0104t0001others(1): Show | a0025c0033t0001g0238a0025c0033t0003g0237a0050c0104t0001g0236others(1): Show | 4 | 246 | 0.0163 | -15 | c.-96 others(24): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 864 | chr10 | TogoVar | ||||||
| CFAP47_chrX_35914734_36390317 | 35937104 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG02723.hp2 HG03098.hp1 HG03209.hp1 |
a0022a0041a0048 | a0022c0078a0041c0075a0048c0072 | a0022c0078t0003a0041c0075t0001a0048c0072t0001 | a0022c0078t0003g0134a0041c0075t0001g0135a0048c0072t0001g0136 | 3 | 216 | 0.0139 | -15 | c.402 others(32): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 2/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| CFAP47_chrX_35914734_36390317 | 36077183 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0040 | a0040c0050 | a0040c0050t0001 | a0040c0050t0001g0183 | 1 | 216 | 0.0046 | -15 | c.469 others(34): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 29/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| CFAP52_chr17_9571642_9648447 | 9636176 | AAAAAAAG others(8): Show |
A | intron_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0217 | 1 | 316 | 0.0032 | -15 | c.147 others(32): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| CFAP52_chr17_9571642_9648447 | 9636192 | AAAGAAAG others(8): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02647.hp1 HG03195.hp1 others(4): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0008a0001c0002t0001g0078a0001c0002t0001g0083others(4): Show | 7 | 316 | 0.0222 | -15 | c.147 others(32): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| CFAP54_chr12_96484577_96880555 | 96771653 | AAAACAAA others(8): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0120 | 1 | 268 | 0.0037 | -15 | c.828 others(34): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 60/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CFAP57_chr1_43167330_43259358 | 43248820 | CATTTTAT others(8): Show |
C | intron_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0272 | 1 | 308 | 0.0033 | -15 | c.353 others(34): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CFAP58_chr10_104348833_104460102 | 104396424 | GAGAGAGA others(8): Show |
G | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 308 | 0.0033 | -15 | c.167 others(34): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CFAP61_chr20_20047532_20365698 | 20067757 | ATTATTAT others(8): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00639.hp2 others(20): Show |
a0001a0002a0010others(2): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(7): Show | a0001c0001t0001g0028a0001c0001t0001g0040a0001c0001t0002g0035others(20): Show | 23 | 236 | 0.0975 | -15 | c.144 others(32): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CFAP61_chr20_20047532_20365698 | 20072091 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00639.hp2 others(11): Show |
a0001a0002a0010others(1): Show | a0001c0001a0001c0027a0002c0002others(3): Show | a0001c0001t0001a0001c0027t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0040a0001c0027t0001g0170a0002c0002t0001g0029others(11): Show | 14 | 236 | 0.0593 | -15 | c.294 others(32): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CFAP61_chr20_20047532_20365698 | 20118286 | TTTCTTTC others(8): Show |
T | intron_variant | MODIFIER | HG01168.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0088 | 1 | 236 | 0.0042 | -15 | c.859 others(34): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 8/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CFAP61_chr20_20047532_20365698 | 20175489 | TTTTTGTT others(8): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG03130.hp2 HG03540.hp1 others(1): Show |
a0001a0005a0013 | a0001c0023a0005c0013a0013c0021 | a0001c0023t0003a0005c0013t0002a0005c0013t0003others(1): Show | a0001c0023t0003g0054a0005c0013t0002g0047a0005c0013t0003g0048others(1): Show | 4 | 236 | 0.0170 | -15 | c.138 others(34): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CFAP61_chr20_20047532_20365698 | 20284289 | ATTTTATT others(8): Show |
A | intron_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0025 | 1 | 236 | 0.0042 | -15 | c.279 others(34): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 22/26 | chr20 | TogoVar | ||||||
| CFAP61_chr20_20047532_20365698 | 20357338 | GGGGAAGT others(8): Show |
G | intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0101 | 1 | 236 | 0.0042 | -15 | c.351 others(34): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | chr20 | TogoVar | ||||||
| CFAP65_chr2_218997846_219046516 | 219043924 | CACACACA others(8): Show |
C | upstream_gene_variant | MODIFIER | NA19011.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0218 | 1 | 322 | 0.0031 | -15 | c.-25 others(26): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 2409 | chr2 | TogoVar | ||||||
| CFAP69_chr7_90240174_90316063 | 90264105 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG01123.hp1 others(3): Show |
a0002a0004a0007 | a0002c0001a0004c0007a0007c0009 | a0002c0001t0001a0004c0007t0001a0007c0009t0002 | a0002c0001t0001g0085a0002c0001t0001g0114a0004c0007t0001g0268others(3): Show | 6 | 338 | 0.0178 | -15 | c.357 others(32): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 4/22 | chr7 | TogoVar | ||||||
| CFAP69_chr7_90240174_90316063 | 90278570 | ATAATAAA others(8): Show |
A | intron_variant | MODIFIER | HG02818.hp1 HG03041.hp1 HG03098.hp2 others(2): Show |
a0001 | a0001c0002a0001c0011 | a0001c0002t0004a0001c0011t0003 | a0001c0002t0004g0161a0001c0002t0004g0162a0001c0011t0003g0158others(2): Show | 5 | 338 | 0.0148 | -15 | c.115 others(34): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CFAP69_chr7_90240174_90316063 | 90290743 | GTCTTTTC others(8): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(61): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0004a0001c0006others(5): Show | a0001c0002t0002a0001c0004t0002a0001c0006t0001others(5): Show | a0001c0002t0002g0010a0001c0002t0002g0022a0001c0002t0002g0117others(56): Show | 64 | 338 | 0.1894 | -15 | c.177 others(34): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CFAP69_chr7_90240174_90316063 | 90302582 | ATTTCCCC others(8): Show |
A | intron_variant | MODIFIER | HG00741.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0257 | 1 | 338 | 0.0030 | -15 | c.205 others(34): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CFAP74_chr1_1916957_2008786 | 1969464 | AGCCCAGC others(8): Show |
A | intron_variant | MODIFIER | HG02080.hp1 HG02135.hp2 NA18747.hp1 others(3): Show |
a0018a0019a0034others(1): Show | a0018c0027a0019c0026a0034c0038others(1): Show | a0018c0027t0001a0019c0026t0002a0034c0038t0004others(1): Show | a0018c0027t0001g0267a0018c0027t0001g0270a0019c0026t0002g0011others(3): Show | 6 | 278 | 0.0216 | -15 | c.104 others(32): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 10/38 | chr1 | TogoVar | ||||||
| CFAP91_chr3_119698022_119772102 | 119738332 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG03486.hp2 NA19005.hp1 NA19066.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0186a0001c0001t0001g0189a0001c0003t0001g0307 | 3 | 386 | 0.0078 | -15 | c.146 others(32): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CFAP95_chr9_69815817_69911227 | 69843505 | CCCTCCTC others(8): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG03486.hp2 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0246a0004c0006t0001g0088 | 2 | 380 | 0.0053 | -15 | c.153 others(30): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CFAP95_chr9_69815817_69911227 | 69843554 | CCTCCTTC others(8): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01433.hp2 HG01934.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108a0001c0001t0001g0210a0001c0001t0001g0224others(2): Show | 5 | 380 | 0.0132 | -15 | c.153 others(30): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CFAP95_chr9_69815817_69911227 | 69843557 | CCTTCTTC others(8): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG01358.hp2 HG02055.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0012a0001c0001t0001g0174a0001c0001t0001g0184others(5): Show | 8 | 380 | 0.0211 | -15 | c.153 others(30): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CFAP97D1_chr17_43775435_43792620 | 43789384 | TCATACTT others(8): Show |
T | downstream_gene_variant | MODIFIER | NA18957.hp1 NA19003.hp2 NA19065.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 402 | 0.0124 | -15 | c.*50 others(26): Show |
CFAP97D1 | ENSG00000231256.8 | transcript | ENST00000449302.8 | protein_coding | 1765 | chr17 | TogoVar | ||||||
| CFAP99_chr4_2413955_2468002 | 2446368 | GTTATTAT others(8): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG01884.hp2 others(4): Show |
a0001 | a0001c0003a0001c0004a0001c0006others(1): Show | a0001c0003t0001a0001c0004t0001a0001c0006t0001others(1): Show | a0001c0003t0001g0172a0001c0003t0001g0315a0001c0004t0001g0178others(4): Show | 7 | 350 | 0.0200 | -15 | c.642 others(32): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CFC1_chr2_130587165_130604575 | 130588077 | ATTATTAT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 242 | 0.0041 | -15 | c.*47 others(26): Show |
CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 4087 | chr2 | TogoVar | ||||||
| CFC1_chr2_130587165_130604575 | 130588080 | ATTATTTT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 242 | 0.0041 | -15 | c.*47 others(26): Show |
CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 4084 | chr2 | TogoVar | ||||||
| CFDP1_chr16_75288710_75438503 | 75346582 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03195.hp2 NA20300.hp1 NA21309.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007a0001c0002t0001g0115a0001c0002t0001g0124 | 3 | 314 | 0.0096 | -15 | c.651 others(34): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
| CFDP1_chr16_75288710_75438503 | 75347350 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG01433.hp1 HG02109.hp2 HG02280.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190a0001c0001t0001g0191a0001c0001t0001g0192others(4): Show | 7 | 314 | 0.0223 | -15 | c.651 others(34): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
| CFDP1_chr16_75288710_75438503 | 75349650 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG03688.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001a0001c0001t0003g0002a0001c0001t0003g0003others(1): Show | 4 | 314 | 0.0127 | -15 | c.651 others(34): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
| CFD_chr19_854664_868641 | 867314 | CCTTAAAG others(8): Show |
C | downstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0022 | 1 | 287 | 0.0035 | -15 | c.*40 others(26): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 3674 | chr19 | TogoVar | ||||||
| CFHR1_chr1_196814731_196837189 | 196825348 | AGCATTTA others(8): Show |
A | intron_variant | MODIFIER | HG02523.hp1 NA18945.hp1 NA18969.hp1 others(2): Show |
a0003a0008 | a0003c0005a0008c0008 | a0003c0005t0001a0008c0008t0001 | a0003c0005t0001g0008a0008c0008t0001g0008 | 5 | 275 | 0.0182 | -15 | c.59- others(28): Show |
CFHR1 | ENSG00000244414.8 | transcript | ENST00000320493.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CFI_chr4_109735695_109806999 | 109800321 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 354 | 0.0028 | -15 | c.57+ others(30): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 1/12 | chr4 | TogoVar |