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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CXorf51B_chrX_146804771_146815411 | 146812210 | T | TATATATG others(627): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 270 | 0.0037 | 634 | c.*19 others(645): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1800 | chrX | TogoVar | |||||||
CXorf51B_chrX_146804771_146815411 | 146812296 | T | TGTACATA others(627): Show |
downstream_gene_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 119 | 0.0168 | 634 | c.*19 others(645): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1886 | chrX | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89619039 | T | TGCTCCCC others(627): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0205 | 1 | 155 | 0.0065 | 634 | c.-10 others(653): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
EGF_chr4_109907883_110018766 | 109921253 | T | TAGAAACT others(627): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0229 | 1 | 335 | 0.0030 | 634 | c.127 others(651): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 60861241 | C | CTGATATA others(627): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 33 | 0.0303 | 634 | c.-11 others(655): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
FLT4_chr5_180596506_180654600 | 180615696 | T | TTCTCCAC others(627): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0344 | 1 | 302 | 0.0033 | 634 | c.321 others(651): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 23/29 | chr5 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586256 | G | GGGGGGGA others(627): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0275 | 1 | 215 | 0.0047 | 634 | c.157 others(649): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GPR173_chrX_53043789_53085615 | 53073915 | A | ATATATAT others(627): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0164 | 1 | 198 | 0.0051 | 634 | c.-97 others(651): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IQCB1_chr3_121764761_121840060 | 121786167 | T | TAAGAAAA others(627): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0126 | 1 | 233 | 0.0043 | 634 | c.127 others(653): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 12/14 | chr3 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997407 | G | GGGGTCGG others(627): Show |
upstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0314 | 1 | 364 | 0.0027 | 634 | c.-20 others(645): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 263 | chr6 | TogoVar | |||||||
LHFPL3_chr7_104323603_104913561 | 104824186 | T | TATATATA others(627): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0054 | 1 | 78 | 0.0128 | 634 | c.683 others(653): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LHFPL3_chr7_104323603_104913561 | 104824186 | T | TATATATA others(627): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0073 | 1 | 78 | 0.0128 | 634 | c.683 others(653): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LHFPL3_chr7_104323603_104913561 | 104824186 | T | TATATATA others(627): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0019 | 1 | 78 | 0.0128 | 634 | c.683 others(653): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124471506 | A | ATATATAA others(627): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 64 | 0.0156 | 634 | c.125 others(651): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124471506 | A | ATATATAA others(627): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG01261.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0016 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0139 others(7): Show |
10 | 73 | 0.1370 | 634 | c.125 others(651): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATTT others(627): Show |
intron_variant | MODIFIER | NA18942.hp2 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0175 a0001c0001t0003g0199 |
2 | 81 | 0.0247 | 634 | c.125 others(651): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(627): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01255.hp2 HG01261.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0025a0002c0002others(2): Show | a0001c0001t0003a0001c0025t0010a0002c0002t0003others(2): Show | a0001c0001t0003g0029 a0001c0001t0003g0192 a0001c0025t0010g0047 others(10): Show |
13 | 20 | 0.6500 | 634 | c.115 others(651): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(627): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0261 | 1 | 8 | 0.1250 | 634 | c.250 others(649): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43432876 | A | AAAGGGAG others(627): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0204 | 1 | 131 | 0.0076 | 634 | c.225 others(651): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | |||||||
MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(627): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0008 | 1 | 4 | 0.2500 | 634 | c.114 others(653): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189400 | A | ATATTTTA others(627): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0079 | 1 | 274 | 0.0036 | 634 | c.-5+ others(649): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MTTP_chr4_99569824_99628997 | 99589035 | A | ACATATAT others(627): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0229 | 1 | 165 | 0.0061 | 634 | c.394 others(649): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MTTP_chr4_99569824_99628997 | 99589035 | A | ACATATAT others(627): Show |
intron_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 165 | 0.0061 | 634 | c.394 others(649): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MTTP_chr4_99569824_99628997 | 99589060 | C | CATATATA others(627): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 361 | 0.0028 | 634 | c.394 others(649): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195760478 | G | GCTAGGAT others(627): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01258.hp2 |
a0039a0041 | a0039c0092a0041c0093 | a0039c0092t0001a0041c0093t0001 | a0039c0092t0001g0177 a0041c0093t0001g0057 |
2 | 131 | 0.0153 | 634 | c.148 others(653): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 16/24 | chr3 | TogoVar | |||||||
MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(627): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0103 | 1 | 156 | 0.0064 | 634 | c.358 others(651): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 1952717 | T | TCCTTCCT others(627): Show |
intron_variant | MODIFIER | HG03486.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0079 a0001c0001t0018g0053 |
2 | 19 | 0.1053 | 634 | c.153 others(651): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 8/24 | chr2 | TogoVar | |||||||
NRDC_chr1_51784210_51883727 | 51852550 | G | GTTTTAAA others(627): Show |
intron_variant | MODIFIER | NA18963.hp1 NA18990.hp2 |
a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0119 a0002c0007t0001g0183 |
2 | 39 | 0.0513 | 634 | c.342 others(653): Show |
NRDC | ENSG00000078618.23 | transcript | ENST00000352171.12 | protein_coding | 1/30 | chr1 | TogoVar | |||||||
OPHN1_chrX_68037344_68438495 | 68326722 | A | AGGGAGGT others(627): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 59 | 0.0169 | 634 | c.155 others(653): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88713084 | C | CCTGAGAG others(627): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG01074.hp2 others(23): Show |
a0001a0002a0006others(5): Show | a0001c0002a0001c0007a0001c0033others(15): Show | a0001c0002t0001a0001c0007t0001a0001c0033t0001others(15): Show | a0001c0002t0001g0110 a0001c0007t0001g0034 a0001c0007t0001g0071 others(23): Show |
26 | 82 | 0.3171 | 634 | c.*25 others(645): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2253 | chr16 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88713084 | C | CCTGAGAG others(627): Show |
downstream_gene_variant | MODIFIER | NA18966.hp2 NA18970.hp2 |
a0002 | a0002c0081a0002c0124 | a0002c0081t0001a0002c0124t0001 | a0002c0081t0001g0230 a0002c0124t0001g0243 |
2 | 58 | 0.0345 | 634 | c.*25 others(645): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2253 | chr16 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109353921 | G | GTCTATGA others(627): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0097 | 1 | 325 | 0.0031 | 634 | c.176 others(653): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
PLCB1_chr20_8127266_8889900 | 8662119 | T | TATATATA others(627): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01496.hp2 HG01517.hp2 others(8): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0014a0001c0002t0012others(7): Show | a0001c0001t0001g0015 a0001c0001t0014g0007 a0001c0002t0012g0041 others(8): Show |
11 | 35 | 0.3143 | 634 | c.862 others(651): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
POGLUT3_chr11_108467116_108503384 | 108502059 | T | TCCTGCCG others(627): Show |
upstream_gene_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 342 | 0.0029 | 634 | c.-36 others(645): Show |
POGLUT3 | ENSG00000178202.14 | transcript | ENST00000323468.10 | protein_coding | 3676 | chr11 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50397738 | A | AGTGTGAC others(627): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0068 | 1 | 210 | 0.0048 | 634 | c.227 others(651): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50397738 | A | AGTGTGAC others(627): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0216 | 1 | 210 | 0.0048 | 634 | c.227 others(651): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2123740 | A | AGGGTCAT others(627): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0262 | 1 | 275 | 0.0036 | 634 | c.335 others(653): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77293869 | T | TATGAAGT others(627): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01243.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0017a0001c0001t0037 | a0001c0001t0011g0053 a0001c0001t0017g0085 a0001c0001t0037g0011 |
3 | 160 | 0.0188 | 634 | c.389 others(655): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | chr3 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 305014 | G | GGGGACAG others(627): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0004 | a0004c0013 | a0004c0013t0003 | a0004c0013t0003g0036 | 1 | 128 | 0.0078 | 634 | c.351 others(653): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934322 | G | GTATTCCA others(627): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 283 | 0.0035 | 634 | c.115 others(651): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75280137 | T | TATATATA others(627): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02572.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0024 a0001c0004t0001g0123 |
2 | 47 | 0.0426 | 634 | c.176 others(651): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50784590 | G | GGGAGGGA others(627): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 135 | 0.0074 | 634 | c.*12 others(645): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1137 | chr19 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50784590 | G | GGGAGGGA others(627): Show |
downstream_gene_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 135 | 0.0074 | 634 | c.*12 others(645): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1137 | chr19 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50784590 | G | GGGAGGGA others(627): Show |
downstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 135 | 0.0074 | 634 | c.*12 others(645): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1137 | chr19 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGAAGGA others(627): Show |
downstream_gene_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 3 | 0.3333 | 634 | c.*12 others(645): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGGAGGG others(627): Show |
downstream_gene_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 3 | 0.3333 | 634 | c.*12 others(645): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGGAGGG others(627): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 3 | 0.3333 | 634 | c.*12 others(645): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246243972 | G | GGCTGAAG others(627): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0112 | 1 | 98 | 0.0102 | 634 | c.531 others(653): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246243972 | G | GGCTGAAG others(627): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02027.hp1 HG02056.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0014a0002c0003 | a0001c0001t0001a0001c0014t0002a0002c0003t0001others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0044 a0001c0014t0002g0055 others(2): Show |
5 | 102 | 0.0490 | 634 | c.531 others(653): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157827261 | A | AACATATA others(627): Show |
intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 293 | 0.0034 | 634 | c.12+ others(649): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |