view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TMCO4_chr1_19677240_19804916 | 19677607 | T | TGGGGGGG others(3900): Show |
downstream_gene_variant | MODIFIER | NA19068.hp1 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0236 | 1 | 312 | 0.0032 | 3907 | c.*54 others(3918): Show |
TMCO4 | ENSG00000162542.14 | transcript | ENST00000294543.11 | protein_coding | 4632 | chr1 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CCGTATAC others(3901): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 342 | 0.0029 | 3908 | c.366 others(3925): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3901): Show |
upstream_gene_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 251 | 0.0040 | 3908 | c.-45 others(3917): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377417 | C | CCCCTGTG others(3902): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0241 | 1 | 370 | 0.0027 | 3909 | c.-14 others(3920): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1392 | chr19 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200717 | T | TGGAGGTG others(3903): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0233 | 1 | 298 | 0.0034 | 3910 | c.955 others(3927): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1222459 | C | CTGGAGGT others(3903): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0027 | 1 | 190 | 0.0053 | 3910 | c.719 others(3929): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3904): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0042 | a0042c0099 | a0042c0099t0001 | a0042c0099t0001g0094 | 1 | 186 | 0.0054 | 3911 | c.723 others(3928): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3906): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0000 | a0000c0103 | a0000c0103t0001 | a0000c0103t0001g0100 | 1 | 186 | 0.0054 | 3913 | c.723 others(3930): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46366247 | G | GGGGCAGG others(3907): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0036 | 1 | 104 | 0.0096 | 3914 | c.830 others(3931): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | TogoVar | |||||||
CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACAC others(3907): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 40 | 0.0250 | 3914 | c.*14 others(3925): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3907): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 186 | 0.0054 | 3914 | c.723 others(3931): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3908): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0145 | 1 | 186 | 0.0054 | 3915 | c.723 others(3932): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
NKX1-1_chr4_1397932_1411442 | 1398178 | G | GGGCATCT others(3908): Show |
downstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0003 | 1 | 382 | 0.0026 | 3915 | c.*47 others(3926): Show |
NKX1-1 | ENSG00000235608.2 | transcript | ENST00000422806.2 | protein_coding | 4753 | chr4 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3909): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 251 | 0.0040 | 3916 | c.-45 others(3925): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 433295 | A | AGTGAGAT others(3909): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0023 | a0001c0023t0007 | a0001c0023t0007g0186 | 1 | 212 | 0.0047 | 3916 | c.111 others(3935): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACAC others(3910): Show |
downstream_gene_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 40 | 0.0250 | 3917 | c.*14 others(3928): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3910): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0093 | 1 | 186 | 0.0054 | 3917 | c.723 others(3934): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(3910): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 336 | 0.0030 | 3917 | c.112 others(3934): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RTEL1_chr20_63653312_63701245 | 63693510 | T | TCCACCAC others(3910): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 60 | 0.0167 | 3917 | c.299 others(3934): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46293880 | A | ACAGCCAC others(3910): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0361 | 1 | 404 | 0.0025 | 3917 | c.340 others(3934): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3912): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0043 | a0043c0097 | a0043c0097t0002 | a0043c0097t0002g0088 | 1 | 186 | 0.0054 | 3919 | c.723 others(3936): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3912): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0016 | a0016c0047 | a0016c0047t0001 | a0016c0047t0001g0086 | 1 | 186 | 0.0054 | 3919 | c.723 others(3936): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3912): Show |
upstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0158 | 1 | 251 | 0.0040 | 3919 | c.-45 others(3928): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
MORN1_chr1_2316253_2396554 | 2325140 | C | CTCCCTCC others(3912): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 80 | 0.0125 | 3919 | c.125 others(3936): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3912): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0034 | 1 | 282 | 0.0036 | 3919 | c.299 others(3934): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3913): Show |
upstream_gene_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 251 | 0.0040 | 3920 | c.-45 others(3929): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46294562 | A | AACTCTAG others(3913): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 404 | 0.0025 | 3920 | c.340 others(3937): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997382 | G | GGGGGCGG others(3914): Show |
upstream_gene_variant | MODIFIER | NA19084.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0345 | 1 | 375 | 0.0027 | 3921 | c.-20 others(3932): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 288 | chr6 | TogoVar | |||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(3914): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 336 | 0.0030 | 3921 | c.112 others(3938): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ZNF605_chr12_132913306_132961306 | 132954440 | A | GGGGAGGG others(3914): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0112 | 1 | 126 | 0.0079 | 3921 | c.-28 others(3940): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3915): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0023 | 1 | 251 | 0.0040 | 3922 | c.-45 others(3931): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46294622 | A | AGCCACGC others(3915): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0224 | 1 | 404 | 0.0025 | 3922 | c.340 others(3939): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(3916): Show |
intron_variant | MODIFIER | NA18951.hp2 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106a0001c0001t0001g0107 | 2 | 370 | 0.0054 | 3923 | c.891 others(3938): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(3916): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 370 | 0.0027 | 3923 | c.891 others(3938): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(3916): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 336 | 0.0030 | 3923 | c.112 others(3940): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344505 | T | TGTGTGTG others(3918): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0021 | 1 | 268 | 0.0037 | 3925 | c.62+ others(3938): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3918): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0061 | a0061c0036 | a0061c0036t0001 | a0061c0036t0001g0181 | 1 | 186 | 0.0054 | 3925 | c.723 others(3942): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237544487 | G | GGACAGTG others(3918): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0069 | 1 | 286 | 0.0035 | 3925 | c.153 others(3944): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(3918): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 336 | 0.0030 | 3925 | c.112 others(3942): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(3919): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0005 | a0002c0005t0020 | a0002c0005t0020g0001 | 1 | 175 | 0.0057 | 3926 | c.164 others(3945): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3920): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0198 | 1 | 236 | 0.0042 | 3927 | c.294 others(3944): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716419 | T | TTGGTGTC others(3920): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0130 | 1 | 170 | 0.0059 | 3927 | c.86- others(3940): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3920): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG02083.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134a0001c0001t0001g0137 | 2 | 251 | 0.0080 | 3927 | c.-45 others(3936): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(3921): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 175 | 0.0057 | 3928 | c.164 others(3947): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3921): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 251 | 0.0040 | 3928 | c.-45 others(3937): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3921): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG02155.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0016others(2): Show | 7 | 251 | 0.0279 | 3928 | c.-45 others(3937): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(3921): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058a0001c0001t0001g0059 | 2 | 158 | 0.0127 | 3928 | c.284 others(3947): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
CNOT3_chr19_54132762_54160681 | 54133762 | C | CCTCTCTC others(3922): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 223 | 0.0045 | 3929 | c.-42 others(3940): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3999 | chr19 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3922): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 251 | 0.0040 | 3929 | c.-45 others(3938): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
BMP2K_chr4_78771350_78921365 | 78813067 | C | CAGAAACA others(3923): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017 | 1 | 204 | 0.0049 | 3930 | c.179 others(3949): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |