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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2053): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0014 | a0014c0012 | a0014c0012t0002 | a0014c0012t0002g0127 | 1 | 32 | 0.0313 | 2060 | c.218 others(2075): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 356450 | G | GTCTTCAC others(2053): Show |
upstream_gene_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 71 | 0.0141 | 2060 | c.-39 others(2071): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3644 | chr17 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870169 | A | ACACCCCA others(2053): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 305 | 0.0033 | 2060 | c.*35 others(2079): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763743 | C | CCTCTCCT others(2054): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 215 | 0.0047 | 2061 | c.108 others(2078): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2054): Show |
intron_variant | MODIFIER | HG00642.hp2 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 a0001c0001t0001g0186 |
2 | 45 | 0.0444 | 2061 | c.108 others(2078): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2054): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 44 | 0.0227 | 2061 | c.108 others(2078): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399271 | C | CCACCACC others(2054): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0131 | 1 | 227 | 0.0044 | 2061 | c.-25 others(2078): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MAN1B1_chr9_137081985_137114183 | 137102262 | T | TAGGTCGG others(2054): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02970.hp1 |
a0002 | a0002c0003a0002c0012 | a0002c0003t0002a0002c0012t0002 | a0002c0003t0002g0099 a0002c0012t0002g0098 |
2 | 18 | 0.1111 | 2061 | c.125 others(2078): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MAN1B1_chr9_137081985_137114183 | 137102262 | T | TAGGTCGG others(2054): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0103 | 1 | 17 | 0.0588 | 2061 | c.125 others(2078): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MAN1B1_chr9_137081985_137114183 | 137102262 | T | TAGGTCGG others(2054): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0106 | 1 | 17 | 0.0588 | 2061 | c.125 others(2078): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MAN1B1_chr9_137081985_137114183 | 137102262 | T | TAGGTCGG others(2054): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02486.hp2 HG02615.hp1 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0008 a0002c0003t0002g0109 |
8 | 24 | 0.3333 | 2061 | c.125 others(2078): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50397972 | C | CGGGGGGG others(2054): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0288 | 1 | 260 | 0.0038 | 2061 | c.227 others(2078): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | chr22 | TogoVar | |||||||
RFC1_chr4_39282456_39371362 | 39348426 | A | AAGGGAAG others(2054): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0085 | 1 | 272 | 0.0037 | 2061 | c.132 others(2078): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2054): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0000 | 1 | 218 | 0.0046 | 2061 | c.*44 others(2072): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(2055): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0010 | a0001c0010t0020 | a0001c0010t0020g0004 | 1 | 25 | 0.0400 | 2062 | c.259 others(2083): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2055): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0018 | a0018c0011 | a0018c0011t0002 | a0018c0011t0002g0011 | 1 | 13 | 0.0769 | 2062 | c.354 others(2081): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240185147 | T | TCCCCTTC others(2055): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0012 | a0012c0003 | a0012c0003t0002 | a0012c0003t0002g0040 | 1 | 129 | 0.0078 | 2062 | c.193 others(2081): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GET4_chr7_871554_901436 | 890415 | C | CGGGGTCT others(2055): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0263 | 1 | 263 | 0.0038 | 2062 | c.467 others(2077): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GET4_chr7_871554_901436 | 890415 | C | CGGGGTCT others(2055): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03540.hp2 |
a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0242 a0001c0006t0002g0264 |
2 | 264 | 0.0076 | 2062 | c.467 others(2077): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LINGO2_chr9_27932617_29218601 | 28189685 | G | GAGGGAGG others(2055): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0048 | 1 | 36 | 0.0278 | 2062 | c.-36 others(2083): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | |||||||
SLC1A2_chr11_35246205_35424558 | 35248646 | G | GATTACTA others(2055): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG03130.hp1 |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0010 | a0001c0002t0006g0135 a0001c0002t0006g0136 a0001c0002t0010g0298 |
3 | 6 | 0.5000 | 2062 | c.*12 others(2075): Show |
SLC1A2 | ENSG00000110436.13 | transcript | ENST00000278379.9 | protein_coding | 2558 | chr11 | TogoVar | |||||||
SLC1A2_chr11_35246205_35424558 | 35248646 | G | GATTACTA others(2055): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0293 | 1 | 4 | 0.2500 | 2062 | c.*12 others(2075): Show |
SLC1A2 | ENSG00000110436.13 | transcript | ENST00000278379.9 | protein_coding | 2558 | chr11 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2056): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0002 | a0002c0002 | a0002c0002t0023 | a0002c0002t0023g0012 | 1 | 44 | 0.0227 | 2063 | c.108 others(2080): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2056): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 HG02630.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0043 | a0001c0001t0027g0271 a0001c0001t0027g0292 a0001c0001t0043g0272 |
3 | 68 | 0.0441 | 2063 | c.*68 others(2074): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2056): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(49): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(11): Show | a0001c0001t0003g0177 a0001c0001t0005g0001 a0001c0001t0005g0019 others(33): Show |
52 | 117 | 0.4444 | 2063 | c.*68 others(2074): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2056): Show |
downstream_gene_variant | MODIFIER | NA18985.hp1 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0001 | 2 | 67 | 0.0299 | 2063 | c.*68 others(2074): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
MAN1B1_chr9_137081985_137114183 | 137102282 | C | CATTCACG others(2056): Show |
intron_variant | MODIFIER | HG02630.hp1 NA19043.hp2 |
a0005 | a0005c0008a0005c0013 | a0005c0008t0002a0005c0013t0002 | a0005c0008t0002g0101 a0005c0013t0002g0096 |
2 | 398 | 0.0050 | 2063 | c.125 others(2080): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CRLF2_chrX_1185490_1217649 | 1198279 | G | GGAAGGCA others(2057): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0029 | 1 | 156 | 0.0064 | 2064 | c.646 others(2079): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2057): Show |
downstream_gene_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0018 | 1 | 66 | 0.0152 | 2064 | c.*68 others(2075): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GPR35_chr2_240620480_240638159 | 240626062 | G | GGGGGTTC others(2057): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02622.hp1 HG02647.hp2 others(2): Show |
a0002 | a0002c0006 | a0002c0006t0009 | a0002c0006t0009g0017 | 5 | 274 | 0.0182 | 2064 | c.-5+ others(2077): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626062 | G | GGGGGTTC others(2057): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0006 | a0002c0006t0038 | a0002c0006t0038g0107 | 1 | 270 | 0.0037 | 2064 | c.-5+ others(2077): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LINGO2_chr9_27932617_29218601 | 28189669 | G | GAGGAAGG others(2057): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0050 | 1 | 45 | 0.0222 | 2064 | c.-36 others(2085): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(2057): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03225.hp1 HG03453.hp1 |
a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0031 a0006c0008t0001g0192 |
3 | 8 | 0.3750 | 2064 | c.-8+ others(2077): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(2057): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 HG03225.hp2 HG03453.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0015 | 3 | 7 | 0.4286 | 2064 | c.*15 others(2075): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(2057): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0106 | 1 | 20 | 0.0500 | 2064 | c.206 others(2083): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
VAV2_chr9_133756894_133997324 | 133827840 | C | CCTACCGC others(2057): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0026 | 1 | 168 | 0.0060 | 2064 | c.449 others(2081): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(2058): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0081 | a0001c0001t0081g0303 | 1 | 40 | 0.0250 | 2065 | c.179 others(2086): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(2058): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0085 | a0001c0001t0085g0302 | 1 | 40 | 0.0250 | 2065 | c.179 others(2086): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCC others(2058): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0002 | a0002c0002t0029 | a0002c0002t0029g0044 | 1 | 44 | 0.0227 | 2065 | c.108 others(2082): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113419071 | C | CCTCCCTC others(2058): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0031 | 1 | 255 | 0.0039 | 2065 | c.106 others(2084): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(2058): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0181 | 1 | 23 | 0.0435 | 2065 | c.137 others(2082): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DCDC2C_chr2_3698575_3853008 | 3725599 | A | AGGTGGAT others(2058): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0292 | 1 | 190 | 0.0053 | 2065 | c.340 others(2082): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2058): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0099 | 1 | 4 | 0.2500 | 2065 | c.972 others(2078): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811197 | T | TCCTCCCT others(2058): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 87 | 0.0115 | 2065 | c.773 others(2080): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50397738 | A | AGTGTGAC others(2058): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0164 a0001c0002t0001g0165 |
2 | 211 | 0.0095 | 2065 | c.227 others(2082): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATF7IP_chr12_14360682_14507930 | 14374988 | T | TTTTTTTT others(2059): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 341 | 0.0029 | 2066 | c.-8+ others(2081): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 1/14 | chr12 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2059): Show |
intron_variant | MODIFIER | NA18994.hp2 NA19012.hp1 NA19063.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 a0001c0001t0002g0219 a0001c0001t0002g0246 others(2): Show |
5 | 199 | 0.0251 | 2066 | c.648 others(2083): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(2059): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0053 a0001c0001t0004g0054 |
2 | 31 | 0.0645 | 2066 | c.445 others(2081): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CNOT3_chr19_54132762_54160681 | 54133762 | C | CCTCTCTC others(2059): Show |
upstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0104 | 1 | 195 | 0.0051 | 2066 | c.-42 others(2077): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3999 | chr19 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(2059): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0065 | 1 | 13 | 0.0769 | 2066 | c.109 others(2085): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |