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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BOP1_chr8_144257045_144296438 | 144281393 | AATACCAG others(23): Show |
A | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 364 | 0.0027 | -30 | c.310 others(47): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | |||||||
BOP1_chr8_144257045_144296438 | 144281423 | CATACCAG others(23): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG02523.hp1 HG03710.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0075 others(2): Show |
5 | 299 | 0.0167 | -30 | c.310 others(47): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | |||||||
BOP1_chr8_144257045_144296438 | 144281453 | AATACCAG others(23): Show |
A | intron_variant | MODIFIER | HG01978.hp2 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 a0001c0001t0001g0227 |
2 | 389 | 0.0051 | -30 | c.310 others(47): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | |||||||
BOP1_chr8_144257045_144296438 | 144281474 | TCTCACTT others(23): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG01081.hp2 HG01243.hp2 others(30): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0003t0001a0001c0006t0001 | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0017 others(27): Show |
33 | 349 | 0.0946 | -30 | c.310 others(47): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | |||||||
BOP1_chr8_144257045_144296438 | 144281496 | TGGCCTTC others(23): Show |
T | intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 273 | 0.0037 | -30 | c.310 others(47): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | |||||||
BOP1_chr8_144257045_144296438 | 144281543 | AATACCAG others(23): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(16): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0001 a0001c0001t0001g0062 a0001c0001t0001g0063 others(14): Show |
19 | 388 | 0.0490 | -30 | c.310 others(47): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | |||||||
BOP1_chr8_144257045_144296438 | 144281573 | CATACCAG others(23): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG01070.hp2 HG01099.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0076 a0001c0001t0001g0083 others(12): Show |
16 | 294 | 0.0544 | -30 | c.310 others(47): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | |||||||
BORA_chr13_72722923_72761196 | 72724713 | TATATACA others(23): Show |
T | upstream_gene_variant | MODIFIER | HG02683.hp1 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0006 a0001c0001t0002g0002 |
2 | 386 | 0.0052 | -30 | c.-33 others(41): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 3209 | chr13 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32417225 | GAGTGCAG others(23): Show |
G | intron_variant | MODIFIER | HG01346.hp2 NA18943.hp1 NA18950.hp1 others(8): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0055 a0001c0001t0001g0097 a0001c0001t0001g0098 others(8): Show |
11 | 420 | 0.0262 | -30 | c.126 others(46): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 14/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32436364 | GGAGGAGG others(23): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014 a0001c0001t0003g0026 |
2 | 419 | 0.0048 | -30 | c.748 others(45): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 9/16 | chr22 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43100632 | TTATATAT others(23): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 192 | 0.0052 | -30 | c.442 others(45): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | TogoVar | |||||||
BRDT_chr1_91944401_92019421 | 91945279 | AATATATA others(23): Show |
A | upstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 109 | 0.0092 | -30 | c.-44 others(41): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 4121 | chr1 | TogoVar | |||||||
BRDT_chr1_91944401_92019421 | 91962144 | CAAAAAAA others(23): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00597.hp1 others(77): Show |
a0002a0007a0014others(1): Show | a0002c0002a0002c0021a0007c0019others(2): Show | a0002c0002t0002a0002c0002t0004a0002c0002t0005others(4): Show | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0026 others(75): Show |
80 | 96 | 0.8333 | -30 | c.-37 others(45): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190203750 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 5 | 0.2000 | -30 | c.961 others(49): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
BRMS1L_chr14_35821338_35876963 | 35851352 | GATTTCCA others(23): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02602.hp2 HG02683.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(19): Show |
29 | 372 | 0.0780 | -30 | c.442 others(49): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 4/9 | chr14 | TogoVar | |||||||
BRMS1L_chr14_35821338_35876963 | 35873189 | GTATATAT others(23): Show |
G | downstream_gene_variant | MODIFIER | HG00609.hp1 NA18747.hp1 NA18965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0239 a0001c0001t0001g0250 others(1): Show |
6 | 30 | 0.2000 | -30 | c.*27 others(41): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 1227 | chr14 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1438060 | CCCCCACA others(23): Show |
C | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0241 | 1 | 358 | 0.0028 | -30 | c.187 others(45): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39217021 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG01516.hp1 HG01884.hp1 HG01884.hp2 others(14): Show |
a0001a0007a0015 | a0001c0001a0007c0025a0015c0021 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0025 a0001c0001t0002g0044 a0001c0001t0003g0269 others(14): Show |
17 | 336 | 0.0506 | -30 | c.365 others(49): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 31/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39217059 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0316 | 1 | 336 | 0.0030 | -30 | c.365 others(49): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 31/40 | chr21 | TogoVar | |||||||
BSN_chr3_49549477_49676549 | 49579796 | ATTGGAAA others(23): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(145): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0016a0001c0017others(32): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(50): Show | a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0101 others(145): Show |
148 | 184 | 0.8043 | -30 | c.224 others(49): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49605439 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | NA18906.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0045 | 1 | 181 | 0.0055 | -30 | c.225 others(49): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSPRY_chr9_113344541_113376222 | 113349599 | AGCCGGGG others(23): Show |
A | disruptive_inframe_deletion | MODERATE | HG00099.hp1 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0064 | 1 | 446 | 0.0022 | -30 | c.30_ others(35): Show |
p.Gly others(11): Show |
BSPRY | ENSG00000119411.11 | transcript | ENST00000374183.5 | protein_coding | 1/6 | 69/2328 | 30/1209 | 10/402 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
BSPRY_chr9_113344541_113376222 | 113357914 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0131 | 1 | 436 | 0.0023 | -30 | c.301 others(47): Show |
BSPRY | ENSG00000119411.11 | transcript | ENST00000374183.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
BTBD7_chr14_93232550_93338036 | 93300744 | GTGTGTGT others(23): Show |
G | intron_variant | MODIFIER | HG01255.hp2 HG02976.hp1 HG03041.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0019a0002c0002t0031 | a0002c0002t0019g0151 a0002c0002t0019g0152 a0002c0002t0019g0153 others(1): Show |
4 | 374 | 0.0107 | -30 | c.-10 others(49): Show |
BTBD7 | ENSG00000011114.15 | transcript | ENST00000334746.10 | protein_coding | 1/10 | chr14 | TogoVar | |||||||
BTBD7_chr14_93232550_93338036 | 93300746 | GTGTGTGT others(23): Show |
G | intron_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0137 | 1 | 373 | 0.0027 | -30 | c.-10 others(49): Show |
BTBD7 | ENSG00000011114.15 | transcript | ENST00000334746.10 | protein_coding | 1/10 | chr14 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38465703 | TAAATTAT others(23): Show |
T | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0186 | 1 | 222 | 0.0045 | -30 | c.115 others(53): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38465731 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | NA18999.hp2 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0081a0001c0001t0093 | a0001c0001t0081g0031 a0001c0001t0093g0032 |
2 | 219 | 0.0091 | -30 | c.115 others(53): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
BTG2_chr1_203300519_203314602 | 203306830 | TCACACAC others(23): Show |
T | intron_variant | MODIFIER | HG02922.hp2 HG03041.hp2 NA18957.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 a0001c0001t0002g0022 |
3 | 343 | 0.0087 | -30 | c.143 others(45): Show |
BTG2 | ENSG00000159388.6 | transcript | ENST00000290551.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BTLA_chr3_112458966_112504472 | 112469620 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | NA18956.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0193 | 1 | 342 | 0.0029 | -30 | c.594 others(45): Show |
BTLA | ENSG00000186265.10 | transcript | ENST00000334529.10 | protein_coding | 4/4 | chr3 | TogoVar | |||||||
BTNL2_chr6_32388339_32412181 | 32410037 | ACTTAGTT others(23): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(286): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0005a0002c0002others(11): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(11): Show | a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 others(107): Show |
289 | 452 | 0.6394 | -30 | c.-29 others(41): Show |
BTNL2 | ENSG00000204290.11 | transcript | ENST00000454136.8 | protein_coding | 2857 | chr6 | TogoVar | |||||||
BTRC_chr10_101349165_101562313 | 101356862 | TGGCTCAT others(23): Show |
T | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 264 | 0.0038 | -30 | c.48+ others(45): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTRC_chr10_101349165_101562313 | 101415486 | TTTATGTT others(23): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG01891.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0014a0001c0002t0002others(3): Show | a0001c0001t0001g0100 a0001c0001t0014g0015 a0001c0002t0002g0025 others(10): Show |
13 | 25 | 0.5200 | -30 | c.49- others(47): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23323894 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG02257.hp1 NA18944.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0097 a0001c0001t0001g0098 others(2): Show |
6 | 126 | 0.0476 | -30 | c.328 others(47): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
C10orf90_chr10_126419997_126675693 | 126442633 | GTATATAT others(23): Show |
G | intron_variant | MODIFIER | HG02132.hp2 HG02683.hp1 HG03654.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0015 a0001c0001t0002g0053 a0001c0001t0003g0098 others(2): Show |
5 | 48 | 0.1042 | -30 | c.218 others(51): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 7/9 | chr10 | TogoVar | |||||||
C12orf40_chr12_39621183_39726914 | 39711838 | TGTATACA others(23): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG02109.hp1 HG02451.hp2 others(8): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0003 | a0001c0001t0001a0001c0007t0001a0003c0003t0001 | a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0029 others(7): Show |
11 | 356 | 0.0309 | -30 | c.141 others(49): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
C12orf40_chr12_39621183_39726914 | 39712958 | CATATACG others(23): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(336): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0007a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(318): Show |
339 | 349 | 0.9713 | -30 | c.141 others(49): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
C12orf40_chr12_39621183_39726914 | 39713277 | CACATACG others(23): Show |
C | intron_variant | MODIFIER | NA20300.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0034 | 1 | 353 | 0.0028 | -30 | c.141 others(49): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
C14orf132_chr14_96034362_96098971 | 96049610 | ACATATAT others(23): Show |
A | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 370 | 0.0027 | -30 | c.27+ others(47): Show |
C14orf132 | ENSG00000227051.7 | transcript | ENST00000555004.3 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
C14orf132_chr14_96034362_96098971 | 96069256 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00621.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0030 a0001c0001t0001g0069 a0001c0001t0001g0130 others(37): Show |
48 | 59 | 0.8136 | -30 | c.28- others(47): Show |
C14orf132 | ENSG00000227051.7 | transcript | ENST00000555004.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
C14orf39_chr14_60430956_60491063 | 60434328 | ATATTATT others(23): Show |
A | downstream_gene_variant | MODIFIER | HG01081.hp2 HG02622.hp1 HG03471.hp1 |
a0003a0008 | a0003c0004a0008c0012 | a0003c0004t0001a0008c0012t0001 | a0003c0004t0001g0151 a0003c0004t0001g0152 a0008c0012t0001g0153 |
3 | 291 | 0.0103 | -30 | c.*24 others(41): Show |
C14orf39 | ENSG00000179008.9 | transcript | ENST00000321731.8 | protein_coding | 1627 | chr14 | TogoVar | |||||||
C14orf93_chr14_22980894_23015143 | 23003880 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG03540.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0026 a0001c0001t0003g0229 |
3 | 337 | 0.0089 | -30 | c.-37 others(49): Show |
C14orf93 | ENSG00000100802.15 | transcript | ENST00000299088.11 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
C19orf38_chr19_10843415_10874790 | 10856502 | TTATTTAT others(23): Show |
T | intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0352 | 1 | 382 | 0.0026 | -30 | c.433 others(45): Show |
C19orf38 | ENSG00000214212.9 | transcript | ENST00000397820.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
C19orf47_chr19_40314536_40353397 | 40338286 | CACACAAA others(23): Show |
C | intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 381 | 0.0026 | -30 | c.20- others(45): Show |
C19orf47 | ENSG00000160392.14 | transcript | ENST00000683109.1 | protein_coding | 2/8 | chr19 | TogoVar | |||||||
C1QTNF1_chr17_79019169_79054788 | 79030454 | CTTTCTTT others(23): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG02895.hp2 HG03453.hp2 |
a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0023 a0001c0004t0008g0075 |
3 | 390 | 0.0077 | -30 | c.-15 others(47): Show |
C1QTNF1 | ENSG00000173918.15 | transcript | ENST00000579760.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
C1QTNF1_chr17_79019169_79054788 | 79030459 | TTTTCTTT others(23): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG01358.hp2 HG02129.hp1 others(18): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0010a0001c0003t0001others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0018 others(17): Show |
21 | 385 | 0.0545 | -30 | c.-15 others(47): Show |
C1QTNF1 | ENSG00000173918.15 | transcript | ENST00000579760.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
C1QTNF7_chr4_15423033_15451167 | 15450545 | CAGAAAAG others(23): Show |
C | downstream_gene_variant | MODIFIER | HG01099.hp1 HG01258.hp2 HG01975.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 a0001c0001t0004g0018 |
13 | 57 | 0.2281 | -30 | c.*77 others(41): Show |
C1QTNF7 | ENSG00000163145.13 | transcript | ENST00000444304.3 | protein_coding | 4379 | chr4 | TogoVar | |||||||
C1R_chr12_7075219_7097445 | 7085325 | TTGGTGGT others(23): Show |
T | intron_variant | MODIFIER | NA18981.hp1 NA19010.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0108 a0001c0006t0001g0115 |
2 | 320 | 0.0063 | -30 | c.127 others(47): Show |
C1R | ENSG00000159403.18 | transcript | ENST00000647956.2 | protein_coding | 9/10 | chr12 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10983044 | CTAAAAAA others(23): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02622.hp1 HG02622.hp2 others(8): Show |
a0001a0002a0004others(1): Show | a0001c0003a0002c0002a0004c0007others(1): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0006others(3): Show | a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0003g0021 others(8): Show |
11 | 388 | 0.0284 | -30 | c.-10 others(41): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 969 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10983045 | TAAAAAAA others(23): Show |
T | upstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 98 | 0.0102 | -30 | c.-10 others(41): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 970 | chr1 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1077125 | AGGCTGAG others(23): Show |
A | downstream_gene_variant | MODIFIER | NA18966.hp1 NA18970.hp2 |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0006c0006t0001 | a0001c0001t0001g0001 a0006c0006t0001g0132 |
2 | 318 | 0.0063 | -30 | c.*57 others(41): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 4697 | chr1 | TogoVar |