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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRYZ_chr1_74700486_74738050 | 74727205 | A | ACCGTATT others(3706): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01071.hp1 others(2): Show |
a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0021 a0002c0004t0003g0043 |
5 | 322 | 0.0155 | 3713 | c.-13 others(3730): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
CRYZ_chr1_74700486_74738050 | 74727205 | A | ACCGTATT others(3707): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0247 | 1 | 318 | 0.0031 | 3714 | c.-13 others(3731): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
CRYZ_chr1_74700486_74738050 | 74727205 | A | ACCGTATT others(3707): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0253 | 1 | 318 | 0.0031 | 3714 | c.-13 others(3731): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
CRYZ_chr1_74700486_74738050 | 74727205 | A | ACCGTATT others(3707): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0239 | 1 | 318 | 0.0031 | 3714 | c.-13 others(3731): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3707): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0025 | 1 | 2 | 0.5000 | 3714 | c.111 others(3731): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3707): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00735.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0004g0031 others(12): Show |
15 | 16 | 0.9375 | 3714 | c.111 others(3731): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3707): Show |
intron_variant | MODIFIER | HG01258.hp1 HG01358.hp2 HG01981.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004 | a0001c0001t0004a0001c0001t0005a0001c0005t0005others(3): Show | a0001c0001t0004g0002 a0001c0001t0004g0162 a0001c0001t0005g0046 others(6): Show |
10 | 11 | 0.9091 | 3714 | c.111 others(3731): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3707): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0204 | 1 | 2 | 0.5000 | 3714 | c.111 others(3731): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3709): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0034 | 1 | 2 | 0.5000 | 3716 | c.111 others(3733): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
ART1_chr11_3640128_3669416 | 3654744 | A | ATCCTCAC others(3710): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0066 | 1 | 347 | 0.0029 | 3717 | c.-52 others(3734): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432164 | A | ACAGGGTG others(3710): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0109 | 1 | 325 | 0.0031 | 3717 | c.101 others(3734): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3710): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0014 | 1 | 2 | 0.5000 | 3717 | c.111 others(3734): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
MORN1_chr1_2316253_2396554 | 2325140 | C | CTCCCTCC others(3711): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 2 | 0.5000 | 3718 | c.125 others(3735): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3711): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0102 | 1 | 2 | 0.5000 | 3718 | c.111 others(3735): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3711): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03195.hp2 |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0003a0003c0008t0003 | a0001c0001t0003g0172 a0003c0008t0003g0184 |
2 | 3 | 0.6667 | 3718 | c.111 others(3735): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3711): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0008 | 1 | 203 | 0.0049 | 3718 | c.-21 others(3735): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACAC others(3712): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 3 | 0.3333 | 3719 | c.*14 others(3730): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3712): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 2 | 0.5000 | 3719 | c.111 others(3736): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716082 | G | GTGGTGGG others(3713): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0048 | 1 | 145 | 0.0069 | 3720 | c.86- others(3733): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364375 | A | ACCCTTAC others(3713): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0173 | 1 | 259 | 0.0039 | 3720 | c.129 others(3739): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3713): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 2 | 0.5000 | 3720 | c.111 others(3737): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3713): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02970.hp1 HG02976.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0002g0035 a0001c0001t0002g0056 a0001c0001t0003g0049 others(3): Show |
6 | 7 | 0.8571 | 3720 | c.111 others(3737): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3713): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02055.hp1 HG02258.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 a0001c0001t0003g0181 |
3 | 4 | 0.7500 | 3720 | c.111 others(3737): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3713): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02622.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0001a0001c0013a0001c0017others(1): Show | a0001c0001t0016a0001c0013t0005a0001c0017t0005others(1): Show | a0001c0001t0016g0069 a0001c0013t0005g0006 a0001c0017t0005g0055 others(1): Show |
4 | 5 | 0.8000 | 3720 | c.111 others(3737): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3713): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03195.hp1 |
a0001 | a0001c0007 | a0001c0007t0003a0001c0007t0006 | a0001c0007t0003g0039 a0001c0007t0006g0041 |
2 | 3 | 0.6667 | 3720 | c.111 others(3737): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3713): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00544.hp1 others(57): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0005a0001c0016others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(7): Show | a0001c0001t0001g0043 a0001c0001t0001g0058 a0001c0001t0001g0078 others(57): Show |
60 | 61 | 0.9836 | 3720 | c.111 others(3737): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3713): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0005 | a0005c0009 | a0005c0009t0014 | a0005c0009t0014g0036 | 1 | 2 | 0.5000 | 3720 | c.111 others(3737): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3713): Show |
intron_variant | MODIFIER | NA18522.hp2 NA19240.hp2 |
a0005a0011 | a0005c0009a0011c0022 | a0005c0009t0005a0011c0022t0002 | a0005c0009t0005g0047 a0011c0022t0002g0185 |
2 | 3 | 0.6667 | 3720 | c.111 others(3737): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716361 | G | GTGGTGGT others(3714): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0072 | 1 | 88 | 0.0114 | 3721 | c.86- others(3734): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185119 | C | CCCCCTTC others(3714): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0048 | a0048c0122 | a0048c0122t0001 | a0048c0122t0001g0127 | 1 | 146 | 0.0068 | 3721 | c.193 others(3740): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CCGTATAC others(3715): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 233 | 0.0043 | 3722 | c.366 others(3739): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502737 | C | CGGGGGGG others(3716): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0028 | 1 | 133 | 0.0075 | 3723 | c.147 others(3742): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49400776 | T | TAAGAATA others(3717): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0003 | a0001c0003t0026 | a0001c0003t0026g0008 | 1 | 288 | 0.0035 | 3724 | c.141 others(3741): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 2/17 | chr18 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414446 | G | GGGAGGGG others(3717): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 306 | 0.0033 | 3724 | c.115 others(3741): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
CDH12_chr5_21745673_22858344 | 22629325 | A | AGGCCAAA others(3718): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0030 | 1 | 60 | 0.0167 | 3725 | c.-52 others(3748): Show |
CDH12 | ENSG00000154162.15 | transcript | ENST00000382254.6 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
UBAP1_chr9_34174043_34257523 | 34187607 | T | TTCAAATT others(3718): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 339 | 0.0029 | 3725 | c.-8+ others(3740): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322870 | T | TGGAATAT others(3719): Show |
upstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0175 | 1 | 226 | 0.0044 | 3726 | c.-21 others(3737): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2099 | chr21 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3719): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0024 | a0024c0028 | a0024c0028t0010 | a0024c0028t0010g0003 | 1 | 34 | 0.0294 | 3726 | c.299 others(3741): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31431778 | T | TAGGGTGG others(3719): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0258 | 1 | 322 | 0.0031 | 3726 | c.101 others(3745): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34187607 | T | TTCAAATT others(3720): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 339 | 0.0029 | 3727 | c.-8+ others(3742): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3721): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0101 | a0101c0044 | a0101c0044t0001 | a0101c0044t0001g0167 | 1 | 8 | 0.1250 | 3728 | c.723 others(3745): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124507236 | G | GGTAGACA others(3722): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0170 | 1 | 207 | 0.0048 | 3729 | c.624 others(3746): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRR23D1_chr8_7534627_7547450 | 7536809 | T | TAAAAAAA others(3726): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0001 | a0002c0001t0006 | a0002c0001t0006g0008 | 1 | 159 | 0.0063 | 3733 | c.-29 others(3744): Show |
PRR23D1 | ENSG00000255251.2 | transcript | ENST00000533250.2 | protein_coding | 2817 | chr8 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311780 | G | GTGCCCCA others(3726): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 317 | 0.0032 | 3733 | c.327 others(3750): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137328267 | A | ATACACCC others(3727): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0030 | a0030c0026 | a0030c0026t0001 | a0030c0026t0001g0033 | 1 | 73 | 0.0137 | 3734 | c.199 others(3753): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364456 | C | CACACCCA others(3729): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0043 | 1 | 205 | 0.0049 | 3736 | c.129 others(3753): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3729): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 3 | 0.6667 | 3736 | c.111 others(3753): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(3729): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0122 | 1 | 62 | 0.0161 | 3736 | c.*53 others(3747): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(3730): Show |
intron_variant | MODIFIER | HG03540.hp1 NA19043.hp2 NA21309.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0011 | 3 | 5 | 0.6000 | 3737 | c.-34 others(3752): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79554445 | T | TTCACTCA others(3730): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0091 | 1 | 29 | 0.0345 | 3737 | c.-32 others(3758): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar |