view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 | 80937312 | C | CTTTTTTT | intron_variant | MODIFIER | HG00597.hp2 HG02280.hp1 HG02897.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 others(4): Show |
7 | 42 | 0.1667 | 7 | c.477 others(24): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113338303 | G | GAATGAAA | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00544.hp1 others(55): Show |
a0004a0005a0008others(7): Show | a0004c0004a0004c0043a0005c0005others(9): Show | a0004c0004t0004a0004c0004t0006a0004c0004t0007others(24): Show | a0004c0004t0004g0302 a0004c0004t0006g0286 a0004c0004t0006g0287 others(55): Show |
58 | 346 | 0.1676 | 7 | c.343 others(26): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 24/34 | chr3 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132820673 | C | CTGTGAGT | intron_variant | MODIFIER | HG02258.hp1 HG02572.hp2 HG02615.hp1 others(2): Show |
a0010 | a0010c0011a0010c0072 | a0010c0011t0001a0010c0072t0002 | a0010c0011t0001g0130 a0010c0011t0001g0240 a0010c0011t0001g0241 others(2): Show |
5 | 244 | 0.0205 | 7 | c.711 others(26): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132823892 | C | CTGTGTGT | intron_variant | MODIFIER | HG00544.hp2 NA19004.hp2 NA20905.hp2 |
a0019a0075 | a0019c0027a0075c0098 | a0019c0027t0002a0075c0098t0002 | a0019c0027t0002g0026 a0019c0027t0002g0078 a0075c0098t0002g0023 |
3 | 244 | 0.0123 | 7 | c.711 others(26): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132887611 | C | CCCTTCTT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00642.hp2 others(7): Show |
a0004a0058a0061 | a0004c0005a0058c0048a0061c0049 | a0004c0005t0001a0004c0005t0002a0058c0048t0001others(1): Show | a0004c0005t0001g0220 a0004c0005t0001g0221 a0004c0005t0001g0222 others(7): Show |
10 | 244 | 0.0410 | 7 | c.330 others(26): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP52_chr17_9571642_9648447 | 9589801 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(155): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0004a0002c0001others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0004others(5): Show | a0001c0002t0001g0004 a0001c0002t0001g0010 a0001c0002t0001g0011 others(154): Show |
158 | 162 | 0.9753 | 7 | c.407 others(24): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9598760 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01255.hp2 others(4): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0004 a0001c0002t0001g0084 a0001c0002t0001g0209 others(4): Show |
7 | 132 | 0.0530 | 7 | c.636 others(22): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9629496 | T | TTTCTTTC | intron_variant | MODIFIER | HG01243.hp2 HG02486.hp1 HG02976.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0011 a0001c0002t0001g0036 a0001c0002t0001g0067 |
3 | 281 | 0.0107 | 7 | c.117 others(24): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP53_chr18_50222193_50271495 | 50227955 | C | CTTTTTTT | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG00673.hp1 others(49): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0025 others(43): Show |
52 | 68 | 0.7647 | 7 | c.131 others(24): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP54_chr12_96484577_96880555 | 96539064 | G | GTTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00621.hp2 others(27): Show |
a0003a0009a0010others(6): Show | a0003c0002a0003c0016a0003c0033others(9): Show | a0003c0002t0001a0003c0016t0001a0003c0033t0001others(9): Show | a0003c0002t0001g0210 a0003c0002t0001g0211 a0003c0002t0001g0223 others(27): Show |
30 | 208 | 0.1442 | 7 | c.192 others(24): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 13/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96621875 | G | GTTTTTTT | intron_variant | MODIFIER | HG01109.hp1 HG02056.hp1 HG02258.hp1 others(13): Show |
a0002a0003a0004others(6): Show | a0002c0003a0002c0007a0003c0033others(7): Show | a0002c0003t0001a0002c0003t0002a0002c0007t0001others(8): Show | a0002c0003t0001g0122 a0002c0003t0001g0126 a0002c0003t0001g0137 others(13): Show |
16 | 39 | 0.4103 | 7 | c.377 others(24): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 27/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96791184 | C | CTTTTTTT | intron_variant | MODIFIER | HG01123.hp2 HG01975.hp2 NA18947.hp2 others(7): Show |
a0005a0055 | a0005c0004a0005c0015a0005c0020others(1): Show | a0005c0004t0001a0005c0015t0001a0005c0020t0001others(1): Show | a0005c0004t0001g0011 a0005c0004t0001g0013 a0005c0004t0001g0107 others(7): Show |
10 | 249 | 0.0402 | 7 | c.868 others(26): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 62/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP57_chr1_43167330_43259358 | 43185678 | C | CAAAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG01978.hp2 HG02027.hp2 others(10): Show |
a0002a0003a0012others(1): Show | a0002c0005a0002c0006a0002c0011others(5): Show | a0002c0005t0001a0002c0006t0001a0002c0011t0001others(5): Show | a0002c0005t0001g0012 a0002c0006t0001g0036 a0002c0011t0001g0026 others(10): Show |
13 | 196 | 0.0663 | 7 | c.969 others(22): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFAP57_chr1_43167330_43259358 | 43186610 | C | CAAAAAAA | intron_variant | MODIFIER | HG01952.hp1 HG02293.hp2 HG02300.hp1 others(3): Show |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0068 a0002c0005t0001g0069 a0002c0005t0001g0071 others(3): Show |
6 | 76 | 0.0789 | 7 | c.970 others(20): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20151829 | C | CAAAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01071.hp1 others(24): Show |
a0002a0003a0006others(1): Show | a0002c0002a0002c0004a0002c0009others(7): Show | a0002c0002t0001a0002c0004t0001a0002c0009t0001others(11): Show | a0002c0002t0001g0088 a0002c0002t0001g0109 a0002c0002t0001g0110 others(24): Show |
27 | 74 | 0.3649 | 7 | c.952 others(24): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20231449 | C | CTGGTGAT | intron_variant | MODIFIER | HG02922.hp1 NA18906.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0002c0002t0007 | a0001c0001t0007g0008 a0002c0002t0007g0018 |
2 | 234 | 0.0085 | 7 | c.206 others(26): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20296070 | T | TTTCTTCC | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00639.hp2 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0002g0198 a0001c0001t0003g0124 a0001c0001t0004g0003 others(29): Show |
32 | 161 | 0.1988 | 7 | c.321 others(26): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320375 | A | ATATATAT | intron_variant | MODIFIER | HG02723.hp1 HG02896.hp2 HG02897.hp1 |
a0002 | a0002c0009 | a0002c0009t0002a0002c0009t0003 | a0002c0009t0002g0104 a0002c0009t0002g0106 a0002c0009t0003g0107 |
3 | 230 | 0.0130 | 7 | c.342 others(28): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320401 | G | GTAATATA | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00558.hp2 others(52): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0006a0001c0026others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0028 a0001c0001t0001g0078 a0001c0001t0001g0079 others(52): Show |
55 | 204 | 0.2696 | 7 | c.342 others(28): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP65_chr2_218997846_219046516 | 219012071 | C | CCACCAAA | intron_variant | MODIFIER | HG01243.hp2 HG02572.hp1 HG02647.hp2 others(2): Show |
a0004a0005 | a0004c0004a0005c0043a0005c0044others(1): Show | a0004c0004t0001a0005c0043t0001a0005c0044t0001others(1): Show | a0004c0004t0001g0094 a0004c0004t0001g0095 a0005c0043t0001g0056 others(2): Show |
5 | 320 | 0.0156 | 7 | c.395 others(26): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 24/34 | chr2 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1945842 | A | AAAAGAAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(78): Show |
a0001a0002a0006others(12): Show | a0001c0025a0001c0030a0001c0064others(24): Show | a0001c0025t0001a0001c0030t0001a0001c0064t0001others(24): Show | a0001c0025t0001g0010 a0001c0025t0001g0276 a0001c0030t0001g0045 others(78): Show |
81 | 267 | 0.3034 | 7 | c.236 others(24): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 20/38 | chr1 | TogoVar | |||||||
CFAP77_chr9_132405211_132578319 | 132458357 | G | GGTGGGGT | intron_variant | MODIFIER | HG00741.hp1 HG01074.hp1 HG01192.hp1 others(24): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0037 a0001c0001t0001g0070 a0001c0001t0001g0074 others(24): Show |
27 | 177 | 0.1525 | 7 | c.196 others(26): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132469838 | A | ATTTTTTT | intron_variant | MODIFIER | HG01106.hp1 HG01167.hp2 HG02109.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0002a0001c0005t0002 | a0001c0001t0001g0152 a0001c0001t0001g0168 a0001c0001t0001g0222 others(3): Show |
6 | 255 | 0.0235 | 7 | c.196 others(26): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP91_chr3_119698022_119772102 | 119738332 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG01109.hp2 HG02015.hp1 others(17): Show |
a0001a0009 | a0001c0001a0001c0002a0009c0022 | a0001c0001t0001a0001c0002t0006a0009c0022t0005 | a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0122 others(17): Show |
20 | 32 | 0.6250 | 7 | c.146 others(24): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CFAP91_chr3_119698022_119772102 | 119766234 | T | TCCCACAG | 3_prime_UTR_variant | MODIFIER | HG01099.hp2 HG01106.hp2 HG01884.hp2 others(15): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0004others(2): Show | a0001c0001t0004a0001c0003t0004a0002c0004t0004others(2): Show | a0001c0001t0004g0014 a0001c0001t0004g0160 a0001c0003t0004g0303 others(13): Show |
18 | 384 | 0.0469 | 7 | c.*11 others(18): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 18/18 | 15146 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFDP1_chr16_75288710_75438503 | 75346582 | C | CAAAAAAA | intron_variant | MODIFIER | HG00741.hp1 HG01071.hp2 HG01515.hp2 others(10): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0029 a0001c0002t0001g0037 a0001c0002t0001g0038 others(10): Show |
13 | 17 | 0.7647 | 7 | c.651 others(26): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFHR2_chr1_196938738_196964622 | 196943183 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG01192.hp2 HG02145.hp2 HG02258.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0048 others(4): Show |
13 | 111 | 0.1171 | 7 | c.-69 others(16): Show |
CFHR2 | ENSG00000080910.14 | transcript | ENST00000367415.8 | protein_coding | 554 | chr1 | TogoVar | |||||||
CFHR4_chr1_196883052_196923633 | 196885562 | A | ATATATAT | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02896.hp1 HG02897.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0027 a0002c0002t0001g0059 a0002c0002t0001g0061 |
4 | 348 | 0.0115 | 7 | c.-25 others(18): Show |
CFHR4 | ENSG00000134365.15 | transcript | ENST00000608469.6 | protein_coding | 2489 | chr1 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109753507 | A | ATATATAT | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00733.hp1 others(66): Show |
a0001a0004a0005others(3): Show | a0001c0002a0004c0005a0005c0007others(3): Show | a0001c0002t0001a0001c0002t0004a0004c0005t0001others(4): Show | a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0019 others(64): Show |
69 | 347 | 0.1988 | 7 | c.905 others(24): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109753507 | A | ATGTATAT | intron_variant | MODIFIER | NA18956.hp2 NA18969.hp2 NA18991.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058 a0001c0002t0001g0062 a0001c0002t0001g0066 others(1): Show |
4 | 282 | 0.0142 | 7 | c.905 others(24): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109756888 | G | GGAAAGAA | intron_variant | MODIFIER | HG02723.hp2 HG03195.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0003g0153 |
3 | 50 | 0.0600 | 7 | c.904 others(22): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109762189 | T | TAAAAAAA | intron_variant | MODIFIER | HG01243.hp2 HG02027.hp1 HG02071.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0002t0001g0111 others(7): Show |
10 | 20 | 0.5000 | 7 | c.483 others(22): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 3/12 | chr4 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109800048 | A | ATTTTTGG | intron_variant | MODIFIER | HG00738.hp1 HG02257.hp2 HG02886.hp2 |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0002a0003c0004t0001 | a0001c0002t0002g0023 a0003c0004t0001g0154 a0003c0004t0001g0155 |
3 | 352 | 0.0085 | 7 | c.57+ others(22): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
CFL2_chr14_34704113_34719593 | 34718777 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01109.hp1 HG01891.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(6): Show | a0001c0001t0002g0002 a0001c0001t0009g0009 a0001c0001t0010g0010 others(6): Show |
26 | 145 | 0.1793 | 7 | c.-42 others(18): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4185 | chr14 | TogoVar | |||||||
CFLAR_chr2_201111164_201181687 | 201114047 | T | TATATATA | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01496.hp1 HG02071.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(6): Show | a0001c0001t0001g0020 a0001c0001t0006g0069 a0001c0001t0010g0048 others(6): Show |
9 | 187 | 0.0481 | 7 | c.-25 others(18): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2116 | chr2 | TogoVar | |||||||
CGAS_chr6_73418711_73457297 | 73442404 | C | CTTTTTTT | intron_variant | MODIFIER | HG02055.hp1 HG02165.hp1 HG02559.hp1 others(23): Show |
a0001 | a0001c0002a0001c0003a0001c0006others(2): Show | a0001c0002t0006a0001c0002t0008a0001c0002t0013others(10): Show | a0001c0002t0006g0116 a0001c0002t0006g0118 a0001c0002t0006g0119 others(20): Show |
26 | 402 | 0.0647 | 7 | c.878 others(24): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
CGAS_chr6_73418711_73457297 | 73453568 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00673.hp2 others(52): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0006others(3): Show | a0001c0002t0002a0001c0002t0006a0001c0002t0007others(17): Show | a0001c0002t0002g0302 a0001c0002t0006g0017 a0001c0002t0007g0022 others(48): Show |
55 | 83 | 0.6627 | 7 | c.-13 others(18): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1272 | chr6 | TogoVar | |||||||
CGB7_chr19_49049274_49062749 | 49060036 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01070.hp2 HG01123.hp1 others(38): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(11): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0008g0014 others(12): Show |
41 | 114 | 0.3596 | 7 | c.-39 others(18): Show |
CGB7 | ENSG00000196337.14 | transcript | ENST00000684222.1 | protein_coding | 2288 | chr19 | TogoVar | |||||||
CGGBP1_chr3_88046950_88064005 | 88050344 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG01070.hp2 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(12): Show |
63 | 154 | 0.4091 | 7 | c.*51 others(18): Show |
CGGBP1 | ENSG00000163320.12 | transcript | ENST00000482016.6 | protein_coding | 1605 | chr3 | TogoVar | |||||||
CGNL1_chr15_57371505_57555717 | 57437619 | C | CAAAAAAA | intron_variant | MODIFIER | HG01123.hp2 HG02004.hp2 HG02132.hp1 others(3): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0025others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(2): Show | a0001c0001t0001g0049 a0001c0001t0001g0226 a0001c0001t0002g0182 others(3): Show |
6 | 33 | 0.1818 | 7 | c.-15 others(22): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57470256 | C | CTTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00423.hp2 others(77): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0001c0011others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(30): Show | a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0073 others(77): Show |
80 | 100 | 0.8000 | 7 | c.240 others(26): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57481064 | G | GTTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00621.hp2 others(22): Show |
a0002a0004a0005others(2): Show | a0002c0002a0002c0008a0004c0004others(3): Show | a0002c0002t0003a0002c0002t0018a0002c0008t0003others(6): Show | a0002c0002t0003g0031 a0002c0002t0003g0068 a0002c0002t0003g0082 others(22): Show |
25 | 162 | 0.1543 | 7 | c.240 others(28): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGRRF1_chr14_54504906_54544292 | 54506695 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00438.hp2 HG01884.hp1 HG02071.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(23): Show |
33 | 212 | 0.1557 | 7 | c.-32 others(18): Show |
CGRRF1 | ENSG00000100532.13 | transcript | ENST00000216420.12 | protein_coding | 3210 | chr14 | TogoVar | |||||||
CHAF1A_chr19_4397640_4448397 | 4399319 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(6): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0008 | a0001c0001t0004a0001c0003t0003a0006c0008t0003 | a0001c0001t0004g0327 a0001c0003t0003g0013 a0001c0003t0003g0283 others(5): Show |
9 | 29 | 0.3103 | 7 | c.-34 others(18): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 3320 | chr19 | TogoVar | |||||||
CHAF1A_chr19_4397640_4448397 | 4408461 | C | CTTTTTTT | intron_variant | MODIFIER | HG01346.hp1 HG01496.hp1 HG02056.hp1 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0028 a0002c0002t0002g0059 a0002c0002t0002g0060 others(10): Show |
13 | 56 | 0.2321 | 7 | c.104 others(22): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132824314 | C | CTTTTTTT | intron_variant | MODIFIER | HG00597.hp2 HG01261.hp2 HG01358.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0076 a0001c0001t0001g0077 others(11): Show |
14 | 127 | 0.1102 | 7 | c.524 others(26): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
CHCHD3_chr7_132779870_133087090 | 132879716 | T | TAAAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp2 HG01175.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0061 others(7): Show |
10 | 73 | 0.1370 | 7 | c.453 others(24): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 5/7 | chr7 | TogoVar | |||||||
CHCHD6_chr3_126699240_126965420 | 126824560 | C | CAAAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG01070.hp2 HG01071.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0131 others(7): Show |
10 | 14 | 0.7143 | 7 | c.412 others(26): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCT1_chr17_60417489_60436426 | 60422013 | T | TACCCAGC | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00738.hp1 others(75): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0035 a0001c0002t0001g0030 others(24): Show |
78 | 320 | 0.2438 | 7 | c.-58 others(16): Show |
CHCT1 | ENSG00000141371.13 | transcript | ENST00000269127.5 | protein_coding | 475 | chr17 | TogoVar | |||||||
CHD1L_chr1_147237684_147300762 | 147288322 | C | CATAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG01175.hp2 HG02922.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0004t0001a0001c0006t0001 | a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0313 others(4): Show |
7 | 234 | 0.0299 | 7 | c.232 others(24): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |