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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DIP2C_chr10_269201_694668 | 478383 | G | GGAGGGGA others(855): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0015 | a0001c0015t0002 | a0001c0015t0002g0083 | 1 | 88 | 0.0114 | 862 | c.158 others(879): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32704292 | C | CTGAAAGT others(855): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0009 | a0002c0009t0010 | a0002c0009t0010g0023 | 1 | 126 | 0.0079 | 862 | c.650 others(879): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32704292 | C | CTGAAAGT others(855): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03195.hp1 HG03209.hp1 |
a0002a0017a0022 | a0002c0026a0017c0027a0022c0025 | a0002c0026t0006a0017c0027t0001a0022c0025t0006 | a0002c0026t0006g0111a0017c0027t0001g0124a0022c0025t0006g0108 | 3 | 126 | 0.0238 | 862 | c.650 others(879): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63486895 | C | CCCTCCAC others(855): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 NA19240.hp2 |
a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0036 | 2 | 374 | 0.0054 | 862 | c.*14 others(873): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1118 | chr20 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 60551574 | G | GAGGGGAG others(855): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 46 | 0.0217 | 862 | c.-17 others(881): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185119 | C | CCCCCTTC others(855): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0089 | a0001c0089t0002 | a0001c0089t0002g0090 | 1 | 174 | 0.0058 | 862 | c.193 others(881): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
JAK2_chr9_4980272_5134948 | 5074987 | T | TCTTATTG others(855): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0014 | a0001c0014t0009 | a0001c0014t0009g0250 | 1 | 364 | 0.0028 | 862 | c.186 others(881): Show |
JAK2 | ENSG00000096968.14 | transcript | ENST00000381652.4 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KIF3B_chr20_32272651_32340011 | 32322993 | C | CATTTATA others(855): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0018 | 1 | 242 | 0.0041 | 862 | c.174 others(881): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATC others(855): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0244 | 1 | 284 | 0.0035 | 862 | c.126 others(879): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATTTAT others(855): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 260 | 0.0039 | 862 | c.125 others(879): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LMF1_chr16_848634_975984 | 857744 | C | CGGGTGTG others(855): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0008 | a0008c0036 | a0008c0036t0003 | a0008c0036t0003g0277 | 1 | 294 | 0.0034 | 862 | c.153 others(881): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(855): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0023 | 1 | 296 | 0.0034 | 862 | c.368 others(879): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(855): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0144 | 1 | 280 | 0.0036 | 862 | c.641 others(877): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(855): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02976.hp1 |
a0001a0004 | a0001c0006a0004c0005 | a0001c0006t0007a0004c0005t0008 | a0001c0006t0007g0289a0004c0005t0008g0288 | 2 | 330 | 0.0061 | 862 | c.-5+ others(877): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(855): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0270 | 1 | 330 | 0.0030 | 862 | c.-5+ others(877): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(855): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0283 | 1 | 330 | 0.0030 | 862 | c.-5+ others(877): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189596 | T | TATATATA others(855): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 330 | 0.0030 | 862 | c.-5+ others(877): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189697 | A | ATATATAT others(855): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0169 | 1 | 330 | 0.0030 | 862 | c.-5+ others(877): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195760478 | G | GCTAGGAT others(855): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0110 | a0110c0044 | a0110c0044t0001 | a0110c0044t0001g0083 | 1 | 249 | 0.0040 | 862 | c.148 others(881): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 16/24 | chr3 | TogoVar | ||||||
NCAN_chr19_19206958_19257233 | 19211000 | C | CGTGGTGG others(855): Show |
upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0241 | 1 | 318 | 0.0031 | 862 | c.-10 others(873): Show |
NCAN | ENSG00000130287.14 | transcript | ENST00000252575.11 | protein_coding | 957 | chr19 | TogoVar | ||||||
NCAN_chr19_19206958_19257233 | 19211002 | C | CAGTGGCT others(855): Show |
upstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0057 | 1 | 318 | 0.0031 | 862 | c.-10 others(873): Show |
NCAN | ENSG00000130287.14 | transcript | ENST00000252575.11 | protein_coding | 955 | chr19 | TogoVar | ||||||
NCAN_chr19_19206958_19257233 | 19211002 | C | CGGTGGCT others(855): Show |
upstream_gene_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 318 | 0.0031 | 862 | c.-10 others(873): Show |
NCAN | ENSG00000130287.14 | transcript | ENST00000252575.11 | protein_coding | 955 | chr19 | TogoVar | ||||||
NCAN_chr19_19206958_19257233 | 19211002 | C | CGGTGGCT others(855): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(107): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0012others(100): Show | 110 | 318 | 0.3459 | 862 | c.-10 others(873): Show |
NCAN | ENSG00000130287.14 | transcript | ENST00000252575.11 | protein_coding | 955 | chr19 | TogoVar | ||||||
NCAN_chr19_19206958_19257233 | 19211002 | C | CGGTGGCT others(855): Show |
upstream_gene_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0105 | 1 | 318 | 0.0031 | 862 | c.-10 others(873): Show |
NCAN | ENSG00000130287.14 | transcript | ENST00000252575.11 | protein_coding | 955 | chr19 | TogoVar | ||||||
NCAN_chr19_19206958_19257233 | 19211002 | C | CGGTGGCT others(855): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(167): Show |
a0001a0007a0010others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0019others(157): Show | 170 | 318 | 0.5346 | 862 | c.-10 others(873): Show |
NCAN | ENSG00000130287.14 | transcript | ENST00000252575.11 | protein_coding | 955 | chr19 | TogoVar | ||||||
NCAN_chr19_19206958_19257233 | 19211002 | C | CGGTGGCT others(855): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0297 | 1 | 318 | 0.0031 | 862 | c.-10 others(873): Show |
NCAN | ENSG00000130287.14 | transcript | ENST00000252575.11 | protein_coding | 955 | chr19 | TogoVar | ||||||
NCAN_chr19_19206958_19257233 | 19211002 | C | CGGTGGCT others(855): Show |
upstream_gene_variant | MODIFIER | NA19077.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0165 | 1 | 318 | 0.0031 | 862 | c.-10 others(873): Show |
NCAN | ENSG00000130287.14 | transcript | ENST00000252575.11 | protein_coding | 955 | chr19 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56739406 | A | AACCTCCC others(855): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0004 | a0001c0004t0045 | a0001c0004t0045g0182 | 1 | 378 | 0.0027 | 862 | c.-14 others(879): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PDCD6_chr5_266646_319974 | 318049 | C | CCCTCCCC others(855): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0140 | 1 | 360 | 0.0028 | 862 | c.*35 others(873): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3076 | chr5 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 402213 | A | ACACCCCG others(855): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0014 | a0014c0029 | a0014c0029t0001 | a0014c0029t0001g0121 | 1 | 216 | 0.0046 | 862 | c.173 others(879): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(855): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057 | 1 | 220 | 0.0046 | 862 | c.24+ others(879): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(855): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018 | 1 | 67 | 0.0149 | 862 | c.159 others(879): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | ||||||
RGS17_chr6_152999459_153136282 | 153108701 | T | TAGAAAAT others(855): Show |
intron_variant | MODIFIER | HG00673.hp2 NA18994.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0008 | a0001c0001t0001g0116a0001c0002t0008g0124 | 2 | 338 | 0.0059 | 862 | c.-26 others(881): Show |
RGS17 | ENSG00000091844.8 | transcript | ENST00000206262.2 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
RGS17_chr6_152999459_153136282 | 153108701 | T | TAGAAAAT others(855): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02723.hp2 NA18944.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0048a0001c0001t0001g0117a0001c0001t0002g0143others(4): Show | 7 | 338 | 0.0207 | 862 | c.-26 others(881): Show |
RGS17 | ENSG00000091844.8 | transcript | ENST00000206262.2 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
RGS17_chr6_152999459_153136282 | 153108701 | T | TAGAAAAT others(855): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0009 | 1 | 338 | 0.0030 | 862 | c.-26 others(881): Show |
RGS17 | ENSG00000091844.8 | transcript | ENST00000206262.2 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
RGS17_chr6_152999459_153136282 | 153108701 | T | TAGAAAAT others(855): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02738.hp1 HG03239.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(1): Show | a0001c0001t0001g0075a0001c0001t0001g0111a0001c0001t0002g0007others(5): Show | 8 | 338 | 0.0237 | 862 | c.-26 others(881): Show |
RGS17 | ENSG00000091844.8 | transcript | ENST00000206262.2 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
RGS17_chr6_152999459_153136282 | 153108701 | T | TAGAAAAT others(855): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 338 | 0.0030 | 862 | c.-26 others(881): Show |
RGS17 | ENSG00000091844.8 | transcript | ENST00000206262.2 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 356364 | T | TCACAGTC others(855): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0003 | a0001c0003t0030 | a0001c0003t0030g0122 | 1 | 133 | 0.0075 | 862 | c.-38 others(873): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3558 | chr17 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(855): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0006 | 1 | 186 | 0.0054 | 862 | c.-50 others(873): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | ||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(855): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 322 | 0.0031 | 862 | c.597 others(879): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1628666 | A | AGGGGTGA others(855): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0148 | 1 | 352 | 0.0028 | 862 | c.299 others(879): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
THBS2_chr6_169210785_169258846 | 169242825 | T | TTCCCACC others(855): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 396 | 0.0025 | 862 | c.695 others(877): Show |
THBS2 | ENSG00000186340.17 | transcript | ENST00000617924.6 | protein_coding | 4/21 | chr6 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2377594 | C | CTCCCCTC others(855): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0020 | a0020c0021 | a0020c0021t0003 | a0020c0021t0003g0099 | 1 | 114 | 0.0088 | 862 | c.-25 others(881): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | chr19 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3221974 | T | TCACCACA others(855): Show |
downstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 360 | 0.0028 | 862 | c.*27 others(873): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 2302 | chr6 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917187 | C | CGGAGGCT others(855): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0267 | 1 | 344 | 0.0029 | 862 | c.218 others(879): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
VPS53_chr17_503668_719839 | 594611 | G | GGAGGAAG others(855): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0127 | a0001c0001t0127g0159 | 1 | 232 | 0.0043 | 862 | c.121 others(881): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 12/21 | chr17 | TogoVar | ||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(855): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 228 | 0.0044 | 862 | c.127 others(879): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668975 | G | GGGGGGGT others(856): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0008 | 1 | 360 | 0.0028 | 863 | c.170 others(884): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(856): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169a0001c0001t0001g0170 | 2 | 336 | 0.0060 | 863 | c.94+ others(878): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | ||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(856): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0229 | 1 | 336 | 0.0030 | 863 | c.94+ others(878): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar |