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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GPC5_chr13_91393621_92872237 | 91432205 | G | GCTGTGTG others(4): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 1 | 42 | 0.0238 | 11 | c.164 others(30): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 1/7 | chr13 | TogoVar | ||||||
GPC5_chr13_91393621_92872237 | 91542019 | T | TAATTAAT others(4): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0028 | 1 | 42 | 0.0238 | 11 | c.325 others(30): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GPC5_chr13_91393621_92872237 | 91621761 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG03453.hp1 HG03471.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0001 | a0001c0001t0002g0041a0001c0004t0001g0017 | 2 | 42 | 0.0476 | 11 | c.326 others(30): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 2/7 | chr13 | TogoVar | ||||||
GPC5_chr13_91393621_92872237 | 92004458 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 42 | 0.0238 | 11 | c.140 others(32): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 6/7 | chr13 | TogoVar | ||||||
GPC5_chr13_91393621_92872237 | 92353266 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 42 | 0.0238 | 11 | c.156 others(34): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GPC5_chr13_91393621_92872237 | 92398428 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 42 | 0.0238 | 11 | c.156 others(34): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GPC5_chr13_91393621_92872237 | 92628260 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 42 | 0.0238 | 11 | c.156 others(34): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GPC5_chr13_91393621_92872237 | 92628264 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03453.hp1 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014a0001c0001t0002g0036a0001c0001t0002g0040others(1): Show | 4 | 42 | 0.0952 | 11 | c.156 others(34): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GPC5_chr13_91393621_92872237 | 92685548 | T | TTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03239.hp2 HG03486.hp1 others(1): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005 | a0001c0001t0001a0001c0001t0003a0003c0003t0002others(1): Show | a0001c0001t0001g0011a0001c0001t0003g0002a0003c0003t0002g0016others(1): Show | 4 | 42 | 0.0952 | 11 | c.156 others(34): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GPC5_chr13_91393621_92872237 | 92685561 | T | TTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0008 | 1 | 42 | 0.0238 | 11 | c.156 others(34): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GPC5_chr13_91393621_92872237 | 92685562 | T | TTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 42 | 0.0238 | 11 | c.156 others(34): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GPC5_chr13_91393621_92872237 | 92692754 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0024 | 1 | 42 | 0.0238 | 11 | c.156 others(34): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GPC6_chr13_93221807_94413020 | 93354349 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0018 | 1 | 76 | 0.0132 | 11 | c.160 others(32): Show |
GPC6 | ENSG00000183098.12 | transcript | ENST00000377047.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GPC6_chr13_93221807_94413020 | 93667735 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 76 | 0.0132 | 11 | c.319 others(32): Show |
GPC6 | ENSG00000183098.12 | transcript | ENST00000377047.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GPC6_chr13_93221807_94413020 | 93698485 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0013 | 1 | 76 | 0.0132 | 11 | c.320 others(32): Show |
GPC6 | ENSG00000183098.12 | transcript | ENST00000377047.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GPC6_chr13_93221807_94413020 | 94315950 | T | TTTTGCAA others(4): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01884.hp1 HG01884.hp2 others(24): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(16): Show | a0001c0001t0001g0032a0001c0001t0001g0037a0001c0001t0001g0071others(24): Show | 27 | 76 | 0.3553 | 11 | c.115 others(30): Show |
GPC6 | ENSG00000183098.12 | transcript | ENST00000377047.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GPC6_chr13_93221807_94413020 | 94410765 | C | CGGGGGGG others(4): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0063 | 1 | 76 | 0.0132 | 11 | c.*75 others(22): Show |
GPC6 | ENSG00000183098.12 | transcript | ENST00000377047.9 | protein_coding | 2746 | chr13 | TogoVar | ||||||
GPCPD1_chr20_5539439_5616006 | 5581814 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0342 | 1 | 386 | 0.0026 | 11 | c.350 others(28): Show |
GPCPD1 | ENSG00000125772.14 | transcript | ENST00000379019.7 | protein_coding | 6/19 | chr20 | TogoVar | ||||||
GPCPD1_chr20_5539439_5616006 | 5615191 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG01496.hp1 HG01516.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0117a0001c0001t0001g0143a0001c0001t0001g0158others(20): Show | 23 | 386 | 0.0596 | 11 | c.-43 others(22): Show |
GPCPD1 | ENSG00000125772.14 | transcript | ENST00000379019.7 | protein_coding | 4186 | chr20 | TogoVar | ||||||
GPCPD1_chr20_5539439_5616006 | 5615204 | A | AAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0306 | 1 | 386 | 0.0026 | 11 | c.-43 others(22): Show |
GPCPD1 | ENSG00000125772.14 | transcript | ENST00000379019.7 | protein_coding | 4199 | chr20 | TogoVar | ||||||
GPCPD1_chr20_5539439_5616006 | 5615204 | A | AAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0305 | 1 | 386 | 0.0026 | 11 | c.-43 others(22): Show |
GPCPD1 | ENSG00000125772.14 | transcript | ENST00000379019.7 | protein_coding | 4199 | chr20 | TogoVar | ||||||
GPD1L_chr3_32101620_32173709 | 32115758 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 360 | 0.0028 | 11 | c.47+ others(26): Show |
GPD1L | ENSG00000152642.11 | transcript | ENST00000282541.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GPD2_chr2_156431379_156591403 | 156449856 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0159 | 1 | 254 | 0.0039 | 11 | c.-9+ others(28): Show |
GPD2 | ENSG00000115159.17 | transcript | ENST00000438166.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GPD2_chr2_156431379_156591403 | 156459686 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01106.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0013a0002c0002t0002others(3): Show | a0001c0001t0001g0022a0001c0001t0001g0062a0001c0001t0001g0064others(17): Show | 20 | 254 | 0.0787 | 11 | c.-8- others(28): Show |
GPD2 | ENSG00000115159.17 | transcript | ENST00000438166.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GPD2_chr2_156431379_156591403 | 156558765 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 254 | 0.0039 | 11 | c.116 others(30): Show |
GPD2 | ENSG00000115159.17 | transcript | ENST00000438166.7 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GPD2_chr2_156431379_156591403 | 156561040 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01070.hp1 HG01258.hp1 others(27): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0023a0001c0001t0001g0050a0001c0001t0001g0051others(27): Show | 30 | 254 | 0.1181 | 11 | c.116 others(30): Show |
GPD2 | ENSG00000115159.17 | transcript | ENST00000438166.7 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GPER1_chr7_1083113_1098810 | 1088044 | G | GGCCAGAG others(4): Show |
upstream_gene_variant | MODIFIER | NA18939.hp1 NA18987.hp2 NA18993.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0031 | a0001c0001t0003g0005a0001c0001t0003g0019a0001c0001t0031g0005 | 6 | 446 | 0.0135 | 11 | c.-60 others(20): Show |
GPER1 | ENSG00000164850.16 | transcript | ENST00000397088.4 | protein_coding | 68 | chr7 | TogoVar | ||||||
GPER1_chr7_1083113_1098810 | 1090099 | A | ACATTTTT others(4): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 446 | 0.0022 | 11 | c.-32 others(30): Show |
GPER1 | ENSG00000164850.16 | transcript | ENST00000397088.4 | protein_coding | 1/1 | chr7 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66599392 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01433.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0128a0001c0001t0001g0182a0001c0001t0001g0212others(3): Show | 6 | 234 | 0.0256 | 11 | c.65- others(28): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GPHN_chr14_66503147_67186803 | 66932444 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 234 | 0.0043 | 11 | c.828 others(28): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GPHN_chr14_66503147_67186803 | 67070715 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122a0001c0001t0001g0123 | 2 | 234 | 0.0086 | 11 | c.114 others(32): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 11/22 | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 67134953 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 234 | 0.0043 | 11 | c.174 others(30): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GPHN_chr14_66503147_67186803 | 67144250 | A | AAAAATAT others(4): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 234 | 0.0043 | 11 | c.183 others(28): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GPHN_chr14_66503147_67186803 | 67144250 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 234 | 0.0043 | 11 | c.183 others(28): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 18/22 | chr14 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143213176 | G | GAAGCCCA others(4): Show |
upstream_gene_variant | MODIFIER | HG01993.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 106 | 0.0094 | 11 | c.-92 others(18): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 41 | chr8 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143218109 | C | CCCCCAAC others(4): Show |
downstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0002 | 1 | 106 | 0.0094 | 11 | c.*25 others(22): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 940 | chr8 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143218172 | C | CACCCACC others(4): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0008 | 1 | 106 | 0.0094 | 11 | c.*26 others(22): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1003 | chr8 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143218210 | A | AACACCAC others(4): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0008 | 1 | 106 | 0.0094 | 11 | c.*26 others(22): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1041 | chr8 | TogoVar | ||||||
GPI_chr19_34360196_34407413 | 34377332 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01884.hp2 NA20300.hp2 |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0151a0001c0003t0006g0152 | 2 | 314 | 0.0064 | 11 | c.403 others(26): Show |
GPI | ENSG00000105220.17 | transcript | ENST00000356487.11 | protein_coding | 4/17 | chr19 | TogoVar | ||||||
GPI_chr19_34360196_34407413 | 34377334 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02055.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0007 | a0001c0003t0003g0143a0001c0003t0003g0144a0001c0003t0003g0145others(1): Show | 4 | 314 | 0.0127 | 11 | c.403 others(26): Show |
GPI | ENSG00000105220.17 | transcript | ENST00000356487.11 | protein_coding | 4/17 | chr19 | TogoVar | ||||||
GPI_chr19_34360196_34407413 | 34377336 | A | AAATATAT others(4): Show |
intron_variant | MODIFIER | HG03453.hp1 NA20752.hp2 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0007 | a0001c0003t0003g0140a0001c0003t0007g0130 | 2 | 314 | 0.0064 | 11 | c.403 others(26): Show |
GPI | ENSG00000105220.17 | transcript | ENST00000356487.11 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GPLD1_chr6_24420832_24494578 | 24434837 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01361.hp2 NA19043.hp1 |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0034a0008c0009t0013 | a0001c0001t0034g0226a0008c0009t0013g0166 | 2 | 358 | 0.0056 | 11 | c.235 others(30): Show |
GPLD1 | ENSG00000112293.15 | transcript | ENST00000230036.2 | protein_coding | 22/24 | chr6 | TogoVar | ||||||
GPM6A_chr4_175627937_175817264 | 175670861 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0021a0001c0001t0003g0022a0001c0001t0007g0008 | 3 | 270 | 0.0111 | 11 | c.387 others(28): Show |
GPM6A | ENSG00000150625.17 | transcript | ENST00000393658.7 | protein_coding | 3/6 | chr4 | TogoVar | ||||||
GPM6A_chr4_175627937_175817264 | 175671477 | G | GAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA18969.hp2 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089a0001c0001t0001g0219 | 2 | 270 | 0.0074 | 11 | c.387 others(28): Show |
GPM6A | ENSG00000150625.17 | transcript | ENST00000393658.7 | protein_coding | 3/6 | chr4 | TogoVar | ||||||
GPM6A_chr4_175627937_175817264 | 175799671 | C | CTTTTCTT others(4): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 270 | 0.0037 | 11 | c.37+ others(28): Show |
GPM6A | ENSG00000150625.17 | transcript | ENST00000393658.7 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
GPM6A_chr4_175627937_175817264 | 175799671 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00438.hp1 others(104): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0113others(104): Show | 107 | 270 | 0.3963 | 11 | c.37+ others(28): Show |
GPM6A | ENSG00000150625.17 | transcript | ENST00000393658.7 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
GPM6A_chr4_175627937_175817264 | 175812300 | G | GTTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 HG02897.hp1 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0073a0001c0001t0002g0015a0001c0001t0002g0235 | 3 | 270 | 0.0111 | 11 | c.-74 others(18): Show |
GPM6A | ENSG00000150625.17 | transcript | ENST00000393658.7 | protein_coding | 37 | chr4 | TogoVar | ||||||
GPM6B_chrX_13765939_13822093 | 13782757 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA18995.hp1 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0217a0001c0001t0004g0230 | 2 | 328 | 0.0061 | 11 | c.525 others(26): Show |
GPM6B | ENSG00000046653.15 | transcript | ENST00000316715.9 | protein_coding | 4/7 | chrX | TogoVar | ||||||
GPM6B_chrX_13765939_13822093 | 13787041 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02970.hp2 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0107a0001c0001t0004g0194 | 2 | 328 | 0.0061 | 11 | c.182 others(28): Show |
GPM6B | ENSG00000046653.15 | transcript | ENST00000316715.9 | protein_coding | 2/7 | chrX | TogoVar | ||||||
GPN1_chr2_27624050_27656511 | 27642976 | C | CACACACA others(4): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 366 | 0.0027 | 11 | c.931 others(26): Show |
GPN1 | ENSG00000198522.14 | transcript | ENST00000610189.2 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |