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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DCLK2_chr4_150073445_150262438 | 150251145 | C | CCCCACAC others(208): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0002 | a0002c0006 | a0002c0006t0004 | a0002c0006t0004g0107 | 1 | 116 | 0.0086 | 215 | c.207 others(234): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DFFB_chr1_3852476_3890429 | 3868659 | G | GCCACACC others(208): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp2 HG04115.hp1 |
a0002a0005 | a0002c0004a0005c0008 | a0002c0004t0001a0005c0008t0006 | a0002c0004t0001g0108 a0005c0008t0006g0019 |
3 | 404 | 0.0074 | 215 | c.510 others(230): Show |
DFFB | ENSG00000169598.17 | transcript | ENST00000378209.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DFFB_chr1_3852476_3890429 | 3868664 | A | ACCACACC others(208): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0270 | 1 | 404 | 0.0025 | 215 | c.510 others(230): Show |
DFFB | ENSG00000169598.17 | transcript | ENST00000378209.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DGAT1_chr8_144309584_144331852 | 144313788 | G | GCGCCGCC others(208): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 370 | 0.0027 | 215 | c.*27 others(226): Show |
DGAT1 | ENSG00000185000.12 | transcript | ENST00000528718.6 | protein_coding | 795 | chr8 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14211704 | T | TTTTACTC others(208): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0012 | 1 | 148 | 0.0068 | 215 | c.212 others(236): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | |||||||
DHX40_chr17_59560610_59613345 | 59569699 | A | AAAATATA others(208): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 324 | 0.0031 | 215 | c.281 others(230): Show |
DHX40 | ENSG00000108406.10 | transcript | ENST00000251241.9 | protein_coding | 2/17 | chr17 | TogoVar | |||||||
DHX40_chr17_59560610_59613345 | 59569699 | A | AATATATA others(208): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 324 | 0.0031 | 215 | c.281 others(230): Show |
DHX40 | ENSG00000108406.10 | transcript | ENST00000251241.9 | protein_coding | 2/17 | chr17 | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 59858226 | T | TAAAAAAG others(208): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 208 | 0.0048 | 215 | c.273 others(234): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 22/27 | chr13 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 516565 | A | ACGGGGGT others(208): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 88 | 0.0114 | 215 | c.86- others(232): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1508391 | C | CCCCTTAC others(208): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02922.hp2 HG02976.hp1 |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0005a0002c0001t0019 | a0002c0001t0002g0032 a0002c0001t0005g0028 a0002c0001t0019g0030 |
3 | 40 | 0.0750 | 215 | c.172 others(232): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911988 | G | GGGGGGGG others(208): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0042 | a0042c0075 | a0042c0075t0001 | a0042c0075t0001g0124 | 1 | 170 | 0.0059 | 215 | c.101 others(236): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123912143 | G | GGGGGTCT others(208): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0068 | a0001c0068t0001 | a0001c0068t0001g0160 | 1 | 170 | 0.0059 | 215 | c.101 others(234): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89618921 | T | TCCCCTCC others(208): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 250 | 0.0040 | 215 | c.-10 others(234): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89618964 | C | CTCCCTGC others(208): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0085 | 1 | 250 | 0.0040 | 215 | c.-10 others(234): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89618964 | C | CTCCCTGC others(208): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 250 | 0.0040 | 215 | c.-10 others(234): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49440616 | T | TATATGAC others(208): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0100 | 1 | 290 | 0.0035 | 215 | c.-53 others(234): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3316062 | C | CTACCACC others(208): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 a0001c0001t0001g0105 |
2 | 250 | 0.0080 | 215 | c.259 others(234): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ELL_chr19_18437663_18527070 | 18442176 | C | CCACACCC others(208): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01891.hp2 others(10): Show |
a0001a0003 | a0001c0001a0001c0007a0001c0015others(1): Show | a0001c0001t0001a0001c0001t0012a0001c0007t0009others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0145 a0001c0001t0001g0180 others(10): Show |
13 | 244 | 0.0533 | 215 | c.*25 others(226): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 486 | chr19 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 695609 | T | TCCTCCCT others(208): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG02970.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0230 others(3): Show |
6 | 378 | 0.0159 | 215 | c.170 others(232): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 695906 | A | ACTCGCTC others(208): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00639.hp1 others(33): Show |
a0001a0007 | a0001c0001a0007c0017 | a0001c0001t0001a0001c0001t0002a0007c0017t0002 | a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0205 others(32): Show |
36 | 378 | 0.0952 | 215 | c.170 others(232): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 700318 | C | CGCGCACA others(208): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0315 a0001c0001t0002g0316 |
2 | 378 | 0.0053 | 215 | c.170 others(232): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 700336 | C | CGCGCACA others(208): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0343 | 1 | 378 | 0.0027 | 215 | c.170 others(232): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
FAM13A_chr4_88720960_89062185 | 89042101 | C | CAAGGTGA others(208): Show |
intron_variant | MODIFIER | HG01069.hp2 NA18982.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0004a0002c0002t0002 | a0001c0003t0004g0029 a0002c0002t0002g0014 |
2 | 208 | 0.0096 | 215 | c.28- others(232): Show |
FAM13A | ENSG00000138640.15 | transcript | ENST00000264344.10 | protein_coding | 1/23 | chr4 | TogoVar | |||||||
FGD6_chr12_95071749_95222467 | 95148809 | T | TATATTAT others(208): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0162 | 1 | 384 | 0.0026 | 215 | c.268 others(234): Show |
FGD6 | ENSG00000180263.14 | transcript | ENST00000343958.9 | protein_coding | 5/20 | chr12 | TogoVar | |||||||
GABRA3_chrX_152161234_152456315 | 152182714 | A | ACTATACA others(208): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02080.hp2 HG02132.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0016 | a0001c0001t0002g0011 a0001c0001t0002g0022 a0001c0001t0004g0008 others(6): Show |
9 | 204 | 0.0441 | 215 | c.114 others(234): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 9/9 | chrX | TogoVar | |||||||
GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGGC others(208): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036 | 1 | 364 | 0.0028 | 215 | c.-20 others(224): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar | |||||||
GALNT13_chr2_153866922_154458979 | 154298608 | T | TAATTTAT others(208): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0042 | 1 | 214 | 0.0047 | 215 | c.976 others(232): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | chr2 | TogoVar | |||||||
GALNT13_chr2_153866922_154458979 | 154298608 | T | TAATTTAT others(208): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01257.hp1 HG01346.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0041 others(18): Show |
21 | 214 | 0.0981 | 215 | c.976 others(232): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | chr2 | TogoVar | |||||||
GALNT13_chr2_153866922_154458979 | 154298608 | T | TAATTTAT others(208): Show |
intron_variant | MODIFIER | HG02040.hp1 NA19004.hp1 NA19011.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0068 | a0001c0001t0004g0003 a0001c0001t0004g0189 a0001c0001t0005g0117 others(1): Show |
4 | 214 | 0.0187 | 215 | c.976 others(232): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | chr2 | TogoVar | |||||||
GALNT13_chr2_153866922_154458979 | 154298608 | T | TAATTTAT others(208): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 | 1 | 214 | 0.0047 | 215 | c.976 others(232): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | chr2 | TogoVar | |||||||
GALNT13_chr2_153866922_154458979 | 154298608 | T | TAATTTAT others(208): Show |
intron_variant | MODIFIER | NA18961.hp1 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0046a0001c0001t0071 | a0001c0001t0046g0186 a0001c0001t0071g0175 |
2 | 214 | 0.0094 | 215 | c.976 others(232): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | chr2 | TogoVar | |||||||
GALNT2_chr1_230062238_230287122 | 230127537 | A | AGCTAATT others(208): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0256 | 1 | 324 | 0.0031 | 215 | c.127 others(234): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77258845 | G | GTGGTGGT others(208): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0085 | a0001c0001t0085g0084 | 1 | 366 | 0.0027 | 215 | c.732 others(232): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77259174 | G | GGTGGCGA others(208): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0150 | a0001c0001t0150g0055 | 1 | 366 | 0.0027 | 215 | c.732 others(232): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
GFOD1_chr6_13352830_13492600 | 13434518 | A | ACACAGAA others(208): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0111 | 1 | 230 | 0.0044 | 215 | c.253 others(234): Show |
GFOD1 | ENSG00000145990.11 | transcript | ENST00000379287.4 | protein_coding | 1/1 | chr6 | TogoVar | |||||||
GK_chrX_30648423_30736462 | 30663964 | T | TATATATA others(208): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0232 | 1 | 286 | 0.0035 | 215 | c.79- others(230): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GLIS3_chr9_3819127_4305068 | 3876693 | G | GGGAGGGG others(208): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0098 | 1 | 188 | 0.0053 | 215 | c.229 others(234): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 8/10 | chr9 | TogoVar | |||||||
GNG13_chr16_793041_805734 | 795580 | G | GCCCTTCT others(208): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 422 | 0.0024 | 215 | c.*31 others(226): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2460 | chr16 | TogoVar | |||||||
GOLGA6L2_chr15_23434038_23452243 | 23440318 | T | TCCCGCAT others(208): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(284): Show |
a0001a0005a0006others(20): Show | a0001c0001a0001c0003a0001c0005others(53): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(66): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(92): Show |
287 | 396 | 0.7248 | 215 | c.215 others(224): Show |
p.Ser others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2218/3499 | 2156/2730 | 719/909 | chr15 | TogoVar | |||
GPIHBP1_chr8_143208218_143222170 | 143218345 | C | CCCAACAC others(208): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 | 1 | 106 | 0.0094 | 215 | c.*28 others(226): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1176 | chr8 | TogoVar | |||||||
GPR139_chr16_20023239_20078890 | 20041128 | A | AAGGAAAG others(208): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0226 | 1 | 364 | 0.0028 | 215 | c.128 others(232): Show |
GPR139 | ENSG00000180269.8 | transcript | ENST00000570682.2 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
GRIK4_chr11_120506748_120993906 | 120794095 | G | GTGTTAGG others(208): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02976.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0023 a0001c0003t0001g0005 |
2 | 128 | 0.0156 | 215 | c.83- others(230): Show |
GRIK4 | ENSG00000149403.13 | transcript | ENST00000527524.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GTF2IRD1_chr7_74448906_74607605 | 74494726 | T | TAAAAAAA others(208): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 |
a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0225 a0002c0007t0001g0237 |
2 | 262 | 0.0076 | 215 | c.-6- others(232): Show |
GTF2IRD1 | ENSG00000006704.11 | transcript | ENST00000424337.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GUCY1A2_chr11_106669019_107023476 | 106709951 | C | CATATAGT others(208): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 | 1 | 256 | 0.0039 | 215 | c.183 others(234): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
HERC4_chr10_67916905_68080283 | 68059721 | T | TATATTAT others(208): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 360 | 0.0028 | 215 | c.226 others(234): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | |||||||
HMCN1_chr1_185729391_186195949 | 186005303 | A | ATAAACGT others(208): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0010 | a0010c0011 | a0010c0011t0004 | a0010c0011t0004g0057 | 1 | 92 | 0.0109 | 215 | c.447 others(234): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | TogoVar | |||||||
HMCN1_chr1_185729391_186195949 | 186005303 | A | ATAAATGT others(208): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0010 | a0010c0011 | a0010c0011t0004 | a0010c0011t0004g0058 | 1 | 92 | 0.0109 | 215 | c.447 others(234): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | TogoVar | |||||||
HMGN1_chr21_39337315_39354088 | 39337374 | A | ATATATAT others(208): Show |
downstream_gene_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 | 1 | 414 | 0.0024 | 215 | c.*57 others(226): Show |
HMGN1 | ENSG00000205581.11 | transcript | ENST00000380749.10 | protein_coding | 4940 | chr21 | TogoVar | |||||||
HMGN1_chr21_39337315_39354088 | 39337374 | A | ATATATAT others(208): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG01256.hp2 HG01928.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0024 | a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 others(8): Show |
28 | 414 | 0.0676 | 215 | c.*57 others(226): Show |
HMGN1 | ENSG00000205581.11 | transcript | ENST00000380749.10 | protein_coding | 4940 | chr21 | TogoVar | |||||||
HS3ST2_chr16_22809162_22921338 | 22819161 | T | TTCCTTCC others(208): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 NA18979.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0225 a0001c0002t0001g0065 a0001c0002t0001g0066 |
3 | 350 | 0.0086 | 215 | c.485 others(232): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |