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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(2239): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0002 | a0002c0003 | a0002c0003t0015 | a0002c0003t0015g0177 | 1 | 143 | 0.0070 | 2246 | c.58- others(2263): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2239): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 218 | 0.0046 | 2246 | c.*44 others(2257): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACGAT others(2239): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 218 | 0.0046 | 2246 | c.*44 others(2257): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
TMEM52B_chr12_10174032_10196804 | 10193454 | T | TAAGAAAA others(2239): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0012 | 1 | 420 | 0.0024 | 2246 | c.*33 others(2257): Show |
TMEM52B | ENSG00000165685.9 | transcript | ENST00000543484.2 | protein_coding | 1651 | chr12 | TogoVar | |||||||
ULK1_chr12_131889622_131928150 | 131917315 | G | GGAGGCTG others(2239): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0100 | 1 | 335 | 0.0030 | 2246 | c.218 others(2261): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2240): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 50 | 0.0200 | 2247 | c.147 others(2264): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARRDC5_chr19_4885437_4907896 | 4885658 | C | CACTACTG others(2240): Show |
downstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 403 | 0.0025 | 2247 | c.*53 others(2258): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 4778 | chr19 | TogoVar | |||||||
FRMPD3_chrX_107444652_107610251 | 107592724 | T | TGCCCCCC others(2240): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0059 | 1 | 173 | 0.0058 | 2247 | c.144 others(2266): Show |
FRMPD3 | ENSG00000147234.11 | transcript | ENST00000683843.1 | protein_coding | 13/14 | chrX | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2240): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0232 | 1 | 224 | 0.0045 | 2247 | c.*39 others(2258): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | |||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2240): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0173 | 1 | 43 | 0.0233 | 2247 | c.-12 others(2268): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78115744 | G | GGCGAAGG others(2240): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0017 | a0017c0019 | a0017c0019t0002 | a0017c0019t0002g0074 | 1 | 415 | 0.0024 | 2247 | c.227 others(2266): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(2241): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0202 | 1 | 158 | 0.0063 | 2248 | c.126 others(2265): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2241): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 HG01884.hp1 others(4): Show |
a0002a0003a0006others(2): Show | a0002c0002a0003c0007a0006c0013others(2): Show | a0002c0002t0012a0003c0007t0012a0006c0013t0006others(2): Show | a0002c0002t0012g0122 a0003c0007t0012g0180 a0003c0007t0012g0185 others(4): Show |
7 | 57 | 0.1228 | 2248 | c.183 others(2265): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2241): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0039 | a0039c0053 | a0039c0053t0002 | a0039c0053t0002g0187 | 1 | 2 | 0.5000 | 2248 | c.801 others(2265): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2241): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 43 | 0.0233 | 2248 | c.-12 others(2269): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2241): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01192.hp2 HG01255.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0092 a0001c0001t0001g0115 a0001c0001t0001g0121 others(12): Show |
15 | 57 | 0.2632 | 2248 | c.-12 others(2269): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130646082 | A | ACCACCTC others(2241): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0128 | 1 | 170 | 0.0059 | 2248 | c.-35 others(2269): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
VCX2_chrX_8164944_8176267 | 8169109 | C | CCCCACAC others(2241): Show |
downstream_gene_variant | MODIFIER | NA18962.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0003 | 1 | 87 | 0.0115 | 2248 | c.*92 others(2257): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 834 | chrX | TogoVar | |||||||
WDR81_chr17_1719704_1743585 | 1741743 | G | GGCCTGAT others(2241): Show |
downstream_gene_variant | MODIFIER | NA19062.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0002 | 1 | 426 | 0.0023 | 2248 | c.*40 others(2259): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 3159 | chr17 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2242): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 50 | 0.0200 | 2249 | c.147 others(2266): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134714467 | G | GTTGTGGA others(2242): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01106.hp2 |
a0001 | a0001c0006a0001c0019 | a0001c0006t0001a0001c0019t0022 | a0001c0006t0001g0108 a0001c0019t0022g0231 |
2 | 4 | 0.5000 | 2249 | c.655 others(2268): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 4/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MOCS3_chr20_50953818_50968929 | 50967212 | T | TGCCTCTA others(2242): Show |
downstream_gene_variant | MODIFIER | NA19003.hp2 NA19080.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0000 | 3 | 434 | 0.0069 | 2249 | c.*69 others(2260): Show |
MOCS3 | ENSG00000124217.5 | transcript | ENST00000244051.3 | protein_coding | 3284 | chr20 | TogoVar | |||||||
PLPP2_chr19_276043_296403 | 282449 | C | CGCTCCCC others(2242): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 277 | 0.0036 | 2249 | c.541 others(2264): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2242): Show |
downstream_gene_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 218 | 0.0046 | 2249 | c.*44 others(2260): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2242): Show |
downstream_gene_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0000 | 1 | 218 | 0.0046 | 2249 | c.*44 others(2260): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
SEPTIN14_chr7_55788540_55867752 | 55828004 | T | TAAGAAGT others(2242): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0317 | 1 | 388 | 0.0026 | 2249 | c.720 others(2266): Show |
SEPTIN14 | ENSG00000154997.9 | transcript | ENST00000388975.4 | protein_coding | 6/9 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20668987 | C | CCCCCGCC others(2243): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0007 | a0007c0047 | a0007c0047t0004 | a0007c0047t0004g0065 | 1 | 358 | 0.0028 | 2250 | c.170 others(2271): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 802065 | C | CCCTCCTG others(2243): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0027 | 1 | 17 | 0.0588 | 2250 | c.18+ others(2267): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 802065 | C | CCCTCCTG others(2243): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0032 | 1 | 17 | 0.0588 | 2250 | c.18+ others(2267): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706313 | G | GATAGATA others(2243): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03195.hp2 |
a0011 | a0011c0029 | a0011c0029t0002 | a0011c0029t0002g0225 a0011c0029t0002g0226 |
2 | 261 | 0.0077 | 2250 | c.228 others(2267): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2243): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0201 | 1 | 249 | 0.0040 | 2250 | c.228 others(2267): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2243): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0188 | 1 | 249 | 0.0040 | 2250 | c.228 others(2267): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2243): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0180 | 1 | 249 | 0.0040 | 2250 | c.228 others(2267): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706313 | G | GATAGATA others(2243): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG03195.hp1 |
a0014 | a0014c0034 | a0014c0034t0014 | a0014c0034t0014g0206 a0014c0034t0014g0307 |
2 | 336 | 0.0060 | 2250 | c.-50 others(2261): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4887 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2243): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0241 | 1 | 318 | 0.0031 | 2250 | c.-50 others(2261): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241748 | A | ACACACAC others(2243): Show |
intron_variant | MODIFIER | NA18945.hp2 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0045 |
2 | 72 | 0.0278 | 2250 | c.107 others(2269): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399457 | C | CCATCACC others(2243): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0057 | 1 | 258 | 0.0039 | 2250 | c.-25 others(2267): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2243): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03041.hp2 NA21309.hp1 |
a0002 | a0002c0009a0002c0010 | a0002c0009t0117a0002c0009t0118a0002c0010t0094 | a0002c0009t0117g0231 a0002c0009t0118g0229 a0002c0010t0094g0141 |
3 | 53 | 0.0566 | 2250 | c.183 others(2267): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877252 | G | GGGAGGTT others(2243): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0039 | 1 | 179 | 0.0056 | 2250 | c.224 others(2269): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43499097 | G | GTGGAGGT others(2243): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0057 | 1 | 247 | 0.0040 | 2250 | c.748 others(2265): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952622 | T | TGGGGGGG others(2243): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0205 | 1 | 156 | 0.0064 | 2250 | c.360 others(2269): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PIP5K1C_chr19_3625183_3705468 | 3649063 | A | ATGCCCAC others(2243): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0312 a0001c0003t0007g0313 |
2 | 309 | 0.0065 | 2250 | c.112 others(2267): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TTTATACA others(2243): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0016 | 1 | 8 | 0.1250 | 2250 | c.-20 others(2261): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31431785 | G | GATAGGGT others(2243): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0008 | 1 | 367 | 0.0027 | 2250 | c.101 others(2269): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432165 | T | TAGGGTGG others(2243): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0166 | 1 | 278 | 0.0036 | 2250 | c.101 others(2267): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246325098 | C | CGGGGGGG others(2243): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 135 | 0.0074 | 2250 | c.531 others(2267): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2244): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0198 | 1 | 88 | 0.0114 | 2251 | c.*92 others(2262): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | |||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2244): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0100 | 1 | 4 | 0.2500 | 2251 | c.972 others(2264): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(2244): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 75 | 0.0133 | 2251 | c.*69 others(2262): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2244): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0186 | 1 | 249 | 0.0040 | 2251 | c.-11 others(2262): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar |