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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(989): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01070.hp1 HG01071.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009 | 4 | 412 | 0.0097 | 996 | c.-48 others(1007): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | ||||||
SLC10A7_chr4_146248981_146526940 | 146286463 | T | TTTGGAGT others(989): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0197 | 1 | 244 | 0.0041 | 996 | c.774 others(1013): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 9/11 | chr4 | TogoVar | ||||||
SLC10A7_chr4_146248981_146526940 | 146286463 | T | TTTGGAGT others(989): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01346.hp1 HG01358.hp2 others(36): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0004g0127a0001c0001t0005g0032a0001c0001t0005g0033others(36): Show | 39 | 244 | 0.1598 | 996 | c.774 others(1013): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 9/11 | chr4 | TogoVar | ||||||
SLC10A7_chr4_146248981_146526940 | 146286463 | T | TTTGGAGT others(989): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0196 | 1 | 244 | 0.0041 | 996 | c.774 others(1013): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 9/11 | chr4 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(989): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0227 | 1 | 420 | 0.0024 | 996 | c.107 others(1013): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(989): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0169 | 1 | 420 | 0.0024 | 996 | c.107 others(1013): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(989): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0225 | 1 | 420 | 0.0024 | 996 | c.107 others(1013): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(989): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 420 | 0.0024 | 996 | c.107 others(1013): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(989): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0235 | 1 | 420 | 0.0024 | 996 | c.107 others(1013): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(989): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02886.hp1 HG03209.hp1 others(1): Show |
a0002 | a0002c0005 | a0002c0005t0001a0002c0005t0008a0002c0005t0026 | a0002c0005t0001g0018a0002c0005t0008g0155a0002c0005t0026g0386 | 4 | 420 | 0.0095 | 996 | c.107 others(1013): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(989): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 420 | 0.0024 | 996 | c.107 others(1013): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(989): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0023 | 1 | 420 | 0.0024 | 996 | c.107 others(1013): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(989): Show |
intron_variant | MODIFIER | HG03041.hp2 NA18953.hp2 |
a0001a0002 | a0001c0021a0002c0005 | a0001c0021t0001a0002c0005t0001 | a0001c0021t0001g0304a0002c0005t0001g0385 | 2 | 420 | 0.0048 | 996 | c.107 others(1013): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(989): Show |
intron_variant | MODIFIER | NA18950.hp1 NA18985.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171a0001c0001t0002g0188 | 2 | 420 | 0.0048 | 996 | c.107 others(1013): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(989): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0175 | 1 | 420 | 0.0024 | 996 | c.107 others(1013): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(989): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014 | a0001c0001t0002g0204a0001c0001t0014g0203 | 2 | 420 | 0.0048 | 996 | c.107 others(1013): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(989): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 186 | 0.0054 | 996 | c.-50 others(1007): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35913714 | G | GAGTGTGT others(989): Show |
downstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 420 | 0.0024 | 996 | c.*30 others(1007): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2029 | chr9 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1628468 | A | AGGCGGGA others(989): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0259 | 1 | 352 | 0.0028 | 996 | c.299 others(1013): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747263 | T | TGGGAGGC others(989): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0106 | 1 | 314 | 0.0032 | 996 | c.189 others(1013): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM120B_chr12_121707752_121787068 | 121747693 | G | TCTGGGGT others(989): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0002 | a0002c0002 | a0002c0002t0077 | a0002c0002t0077g0257 | 1 | 314 | 0.0032 | 996 | c.189 others(1008): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | chr12 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930835 | G | GTTAGGGA others(989): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 466 | 0.0022 | 996 | c.*47 others(1007): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4534 | chr11 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(989): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0131 | 1 | 174 | 0.0058 | 996 | c.41- others(1013): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(989): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 360 | 0.0028 | 996 | c.*24 others(1007): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(989): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 360 | 0.0028 | 996 | c.*24 others(1007): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(989): Show |
downstream_gene_variant | MODIFIER | NA18970.hp1 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 360 | 0.0056 | 996 | c.*24 others(1007): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(989): Show |
downstream_gene_variant | MODIFIER | HG04204.hp1 NA18968.hp2 NA18990.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0002g0003 | 4 | 360 | 0.0111 | 996 | c.*24 others(1007): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(989): Show |
downstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 360 | 0.0028 | 996 | c.*24 others(1007): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(989): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 360 | 0.0028 | 996 | c.*24 others(1007): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(989): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 360 | 0.0028 | 996 | c.*24 others(1007): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(989): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 HG02027.hp1 HG02145.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0002g0003 | 12 | 360 | 0.0333 | 996 | c.*24 others(1007): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(989): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 360 | 0.0028 | 996 | c.*24 others(1007): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(989): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0251 | 1 | 394 | 0.0025 | 996 | c.129 others(1013): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(989): Show |
intron_variant | MODIFIER | NA18953.hp1 NA19056.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0025a0001c0001t0003g0101 | 3 | 394 | 0.0076 | 996 | c.129 others(1013): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ADAMTS17_chr15_99966437_100346975 | 100011336 | G | GGGAAGGA others(990): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0002 | a0002c0004 | a0002c0004t0032 | a0002c0004t0032g0039 | 1 | 228 | 0.0044 | 997 | c.259 others(1018): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100162448 | T | TGTATATA others(990): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0125 | 1 | 228 | 0.0044 | 997 | c.118 others(1016): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126584671 | A | AAAAAAAA others(990): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02723.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0006a0001c0004t0014a0001c0004t0022others(1): Show | a0001c0004t0006g0127a0001c0004t0014g0128a0001c0004t0014g0332others(2): Show | 5 | 380 | 0.0132 | 997 | c.313 others(1012): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 3/17 | chr5 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(990): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00741.hp2 HG02738.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0121a0001c0001t0001g0122a0001c0001t0001g0123others(4): Show | 7 | 326 | 0.0215 | 997 | c.327 others(1014): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(990): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 | 1 | 320 | 0.0031 | 997 | c.380 others(1014): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(990): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02976.hp2 |
a0001 | a0001c0006a0001c0031 | a0001c0006t0048a0001c0031t0006 | a0001c0006t0048g0047a0001c0031t0006g0048 | 2 | 272 | 0.0074 | 997 | c.109 others(1016): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CYLC1_chrX_83856146_83891698 | 83878204 | T | TATATATA others(990): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 208 | 0.0048 | 997 | c.192 others(1016): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EEF1A2_chr20_63483014_63504083 | 63487068 | T | TCCTCCAC others(990): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0161 | 1 | 374 | 0.0027 | 997 | c.*12 others(1008): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 945 | chr20 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 520669 | C | CCACCACG others(990): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0158 | 1 | 272 | 0.0037 | 997 | c.238 others(1018): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574458 | C | CGTGTGGG others(990): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 418 | 0.0024 | 997 | c.119 others(1016): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
INVS_chr9_100094243_100307175 | 100240112 | C | CCAACAAA others(990): Show |
frameshift_variant others(1): Show |
HIGH | HG02056.hp2 | a0007 | a0007c0011 | a0007c0011t0002 | a0007c0011t0002g0104 | 1 | 182 | 0.0055 | 997 | c.668 others(1004): Show |
p.Pro others(5): Show |
INVS | ENSG00000119509.13 | transcript | ENST00000262457.7 | protein_coding | 6/17 | 867/4897 | 669/3198 | 223/1065 | chr9 | TogoVar | ||
MRPL28_chr16_361969_375538 | 370296 | C | CCCCCGGC others(990): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0184 | 1 | 394 | 0.0025 | 997 | c.-7- others(1008): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
PGAP6_chr16_365788_386978 | 370296 | C | CCCCCGGC others(990): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0143 | 1 | 376 | 0.0027 | 997 | c.*16 others(1008): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 491 | chr16 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946849 | G | GGGGATGG others(990): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 308 | 0.0033 | 997 | c.371 others(1014): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(990): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 67 | 0.0149 | 997 | c.159 others(1014): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(990): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 67 | 0.0149 | 997 | c.159 others(1014): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar |