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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DCDC2C_chr2_3698575_3853008 | 3725566 | A | AGAGGAAG others(785): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0212 | 1 | 324 | 0.0031 | 792 | c.340 others(809): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DCDC2C_chr2_3698575_3853008 | 3725599 | A | AGGTGGAT others(785): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02738.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0004 | a0001c0001t0005g0059a0001c0002t0004g0167 | 2 | 324 | 0.0062 | 792 | c.340 others(809): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DCDC2C_chr2_3698575_3853008 | 3725599 | A | AGGTGGAT others(785): Show |
intron_variant | MODIFIER | HG02155.hp2 HG02523.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007a0001c0001t0004g0055 | 2 | 324 | 0.0062 | 792 | c.340 others(809): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DCDC2C_chr2_3698575_3853008 | 3725599 | A | AGGTGGAT others(785): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0274 | 1 | 324 | 0.0031 | 792 | c.340 others(809): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DCDC2C_chr2_3698575_3853008 | 3725599 | A | AGGTGGAT others(785): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0282 | 1 | 324 | 0.0031 | 792 | c.340 others(809): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DIRAS1_chr19_2709567_2726372 | 2713578 | G | GCACCACC others(785): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 412 | 0.0024 | 792 | c.*36 others(803): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 988 | chr19 | TogoVar | ||||||
DIRAS1_chr19_2709567_2726372 | 2713578 | G | GCACCACC others(785): Show |
downstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017 | 1 | 412 | 0.0024 | 792 | c.*36 others(803): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 988 | chr19 | TogoVar | ||||||
DIRAS1_chr19_2709567_2726372 | 2713578 | G | GCACCACC others(785): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 2 | 412 | 0.0049 | 792 | c.*36 others(803): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 988 | chr19 | TogoVar | ||||||
DIRAS1_chr19_2709567_2726372 | 2713713 | T | TCACCTCC others(785): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 412 | 0.0024 | 792 | c.*34 others(803): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 853 | chr19 | TogoVar | ||||||
DIRAS1_chr19_2709567_2726372 | 2713738 | C | CCCTCACT others(785): Show |
downstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017 | 1 | 412 | 0.0024 | 792 | c.*34 others(803): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 828 | chr19 | TogoVar | ||||||
DIRAS1_chr19_2709567_2726372 | 2713757 | C | CCACCTCC others(785): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 412 | 0.0024 | 792 | c.*34 others(803): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 809 | chr19 | TogoVar | ||||||
DPH7_chr9_137549444_137583925 | 137568368 | T | TGGGTGAC others(785): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0022 | 1 | 340 | 0.0029 | 792 | c.641 others(809): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
ELF2_chr4_139052265_139182218 | 139151081 | A | AAGAAAGA others(785): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 342 | 0.0029 | 792 | c.-25 others(813): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 1/9 | chr4 | TogoVar | ||||||
ENTPD2_chr9_137043107_137059061 | 137050042 | G | GCCGCCAC others(785): Show |
intron_variant | MODIFIER | HG01952.hp1 HG01978.hp2 HG02004.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048a0001c0002t0001g0142 | 3 | 400 | 0.0075 | 792 | c.103 others(807): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | ||||||
ENTPD2_chr9_137043107_137059061 | 137050244 | C | CCACGACA others(785): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0169 | 1 | 400 | 0.0025 | 792 | c.102 others(807): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137355531 | G | GGAAGGGA others(785): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0005 | a0005c0018 | a0005c0018t0001 | a0005c0018t0001g0029 | 1 | 82 | 0.0122 | 792 | c.757 others(807): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | ||||||
FER_chr5_108742897_109201841 | 108930372 | T | TTCCCTCC others(785): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0079 | 1 | 138 | 0.0073 | 792 | c.123 others(813): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
FMN2_chr1_240086883_240480187 | 240185147 | T | TCCCCTTC others(785): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0087 | 1 | 174 | 0.0058 | 792 | c.193 others(811): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GP6_chr19_55008705_55043264 | 55033052 | T | TAGACGCG others(785): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 441 | 0.0023 | 792 | c.35- others(805): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 1/7 | chr19 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626032 | T | TGGGGGTC others(785): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 400 | 0.0025 | 792 | c.-5+ others(805): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GRAMD1B_chr11_123425269_123632767 | 123584374 | T | TGGGAGGG others(785): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0045 | 1 | 282 | 0.0036 | 792 | c.684 others(805): Show |
GRAMD1B | ENSG00000023171.20 | transcript | ENST00000635736.2 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GTPBP6_chrX_299759_323796 | 316000 | G | GACACACA others(785): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 |
a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0017a0005c0010t0001g0019 | 2 | 155 | 0.0129 | 792 | c.488 others(807): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
IL17REL_chr22_49986811_50017765 | 50009894 | T | TGGCGGCA others(785): Show |
intron_variant | MODIFIER | HG02602.hp2 HG02735.hp2 HG02738.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205a0001c0001t0001g0206a0001c0001t0001g0207others(1): Show | 4 | 440 | 0.0091 | 792 | c.103 others(809): Show |
IL17REL | ENSG00000188263.11 | transcript | ENST00000695950.1 | protein_coding | 1/14 | chr22 | TogoVar | ||||||
IL17REL_chr22_49986811_50017765 | 50009894 | T | TGGCGGCA others(785): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00544.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0018others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0033a0001c0001t0001g0034others(27): Show | 39 | 440 | 0.0886 | 792 | c.103 others(809): Show |
IL17REL | ENSG00000188263.11 | transcript | ENST00000695950.1 | protein_coding | 1/14 | chr22 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406284 | C | CGTCTTCC others(785): Show |
3_prime_UTR_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0184 | a0001c0001t0184g0202 | 1 | 276 | 0.0036 | 792 | c.*54 others(801): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 549 | chr2 | TogoVar | |||||
KRT82_chr12_52388931_52411335 | 52409027 | C | CCTCTCCC others(785): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01175.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 4 | 370 | 0.0108 | 792 | c.-27 others(803): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2693 | chr12 | TogoVar | ||||||
KRT82_chr12_52388931_52411335 | 52409027 | C | CCTCTCCC others(785): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 370 | 0.0027 | 792 | c.-27 others(803): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2693 | chr12 | TogoVar | ||||||
LINGO2_chr9_27932617_29218601 | 28189313 | A | AAGGGAGG others(785): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0062 | 1 | 62 | 0.0161 | 792 | c.-36 others(813): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 857768 | C | CGGGTGTG others(785): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0006 | a0006c0021 | a0006c0021t0006 | a0006c0021t0006g0019 | 1 | 294 | 0.0034 | 792 | c.153 others(811): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
MCCC1_chr3_183010218_183104496 | 183017666 | C | CAGAGGCC others(785): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 344 | 0.0029 | 792 | c.197 others(809): Show |
MCCC1 | ENSG00000078070.14 | transcript | ENST00000265594.9 | protein_coding | 17/18 | chr3 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(785): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0003 | a0002c0003t0028 | a0002c0003t0028g0173 | 1 | 276 | 0.0036 | 792 | c.100 others(811): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3583360 | G | GCAGCCAC others(785): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0018 | a0018c0013 | a0018c0013t0019 | a0018c0013t0019g0278 | 1 | 292 | 0.0034 | 792 | c.377 others(809): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17877099 | G | GGGAGGTG others(785): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0254 | 1 | 274 | 0.0037 | 792 | c.224 others(811): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17877319 | G | GGTTAGGG others(785): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 274 | 0.0037 | 792 | c.224 others(811): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17877396 | G | GGGAGGTT others(785): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0008 | a0008c0011 | a0008c0011t0017 | a0008c0011t0017g0172 | 1 | 274 | 0.0037 | 792 | c.224 others(811): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(785): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 280 | 0.0036 | 792 | c.641 others(807): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(785): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0011 | a0011c0016 | a0011c0016t0002 | a0011c0016t0002g0263 | 1 | 272 | 0.0037 | 792 | c.250 others(807): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(785): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 272 | 0.0037 | 792 | c.250 others(807): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43500211 | G | GCGGTGGT others(785): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0145 | 1 | 250 | 0.0040 | 792 | c.748 others(809): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | chr22 | TogoVar | ||||||
MRPS9_chr2_105033069_105104960 | 105055529 | C | CGCATTTT others(785): Show |
intron_variant | MODIFIER | HG03139.hp1 NA19240.hp2 |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0038a0002c0005t0001g0039 | 2 | 394 | 0.0051 | 792 | c.315 others(809): Show |
MRPS9 | ENSG00000135972.9 | transcript | ENST00000258455.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NAALADL2_chr3_174854334_175815548 | 175670512 | A | AATTTATA others(785): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0003 | a0003c0007 | a0003c0007t0006 | a0003c0007t0006g0041 | 1 | 64 | 0.0156 | 792 | c.189 others(813): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NEU4_chr2_241804193_241822413 | 241806758 | A | ACCCTCCC others(785): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0077 | 1 | 319 | 0.0031 | 792 | c.-25 others(803): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2434 | chr2 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150439 | C | CGCCGCCT others(785): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0147 | 1 | 294 | 0.0034 | 792 | c.902 others(807): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NPDC1_chr9_137034463_137051177 | 137050042 | G | GCCGCCAC others(785): Show |
upstream_gene_variant | MODIFIER | HG01952.hp1 HG01978.hp2 HG02004.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014a0001c0001t0002g0103 | 3 | 402 | 0.0075 | 792 | c.-40 others(803): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3866 | chr9 | TogoVar | ||||||
NPDC1_chr9_137034463_137051177 | 137050244 | C | CCACGACA others(785): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 402 | 0.0025 | 792 | c.-42 others(803): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4068 | chr9 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45923808 | A | ATCGGGTG others(785): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 | 1 | 292 | 0.0034 | 792 | c.718 others(809): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45924042 | A | AGTCGCGT others(785): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 292 | 0.0034 | 792 | c.718 others(809): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45924480 | T | TGAGGAGA others(785): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0231 | 1 | 292 | 0.0034 | 792 | c.718 others(809): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45924666 | A | ATCGGGTG others(785): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02165.hp1 NA19091.hp2 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0169a0001c0001t0001g0181a0004c0007t0001g0137 | 3 | 292 | 0.0103 | 792 | c.718 others(809): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45924827 | C | CGGGAACA others(785): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0210 | 1 | 292 | 0.0034 | 792 | c.718 others(809): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |