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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SHLD1_chr20_5745401_5869395 | 5781641 | CTATTTTT others(3): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0310 | 1 | 328 | 0.0031 | -10 | c.178 others(27): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5841170 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0068 | 1 | 328 | 0.0031 | -10 | c.179 others(29): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5860876 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG00738.hp2 HG01069.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0001t0001g0036 a0001c0001t0001g0075 a0001c0001t0001g0079 others(19): Show |
22 | 328 | 0.0671 | -10 | c.179 others(27): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD2_chr10_87090206_87196465 | 87095160 | AGGTCGGG others(3): Show |
A | upstream_gene_variant | MODIFIER | HG01099.hp2 HG02109.hp1 HG02132.hp2 others(18): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(2): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(18): Show |
21 | 340 | 0.0618 | -10 | c.-14 others(19): Show |
SHLD2 | ENSG00000122376.12 | transcript | ENST00000298786.5 | protein_coding | 45 | chr10 | TogoVar | |||||||
SHLD2_chr10_87090206_87196465 | 87144616 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG02135.hp2 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 |
3 | 340 | 0.0088 | -10 | c.-5- others(25): Show |
SHLD2 | ENSG00000122376.12 | transcript | ENST00000298786.5 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SHLD2_chr10_87090206_87196465 | 87163936 | ATTTTCTT others(3): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 340 | 0.0029 | -10 | c.163 others(29): Show |
SHLD2 | ENSG00000122376.12 | transcript | ENST00000298786.5 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SHMT1_chr17_18322873_18368550 | 18343622 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | NA19003.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0045 | 1 | 220 | 0.0046 | -10 | c.520 others(27): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 5/11 | chr17 | TogoVar | |||||||
SHOC1_chr9_111681171_111799937 | 111769976 | TTTTTTTT others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(100): Show |
a0001a0002a0018others(2): Show | a0001c0001a0001c0027a0002c0002others(4): Show | a0001c0001t0001a0001c0027t0001a0002c0002t0002others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 others(93): Show |
103 | 296 | 0.3480 | -10 | c.442 others(27): Show |
SHOC1 | ENSG00000165181.17 | transcript | ENST00000682961.1 | protein_coding | 5/27 | chr9 | TogoVar | |||||||
SHOC1_chr9_111681171_111799937 | 111789476 | ATTTTAAG others(3): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG01884.hp2 HG02109.hp1 others(1): Show |
a0002 | a0002c0007a0002c0010 | a0002c0007t0008a0002c0010t0002a0002c0010t0004 | a0002c0007t0008g0018 a0002c0010t0002g0016 a0002c0010t0004g0219 |
4 | 296 | 0.0135 | -10 | c.45+ others(25): Show |
SHOC1 | ENSG00000165181.17 | transcript | ENST00000682961.1 | protein_coding | 2/27 | chr9 | TogoVar | |||||||
SHOC2_chr10_110914604_111018665 | 111001987 | AGTGAGCC others(3): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0230 a0001c0001t0008g0321 |
2 | 386 | 0.0052 | -10 | c.972 others(27): Show |
SHOC2 | ENSG00000108061.13 | transcript | ENST00000369452.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SHOX2_chr3_158090905_158111420 | 158096887 | CAAATATA others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0174 | 1 | 380 | 0.0026 | -10 | c.*11 others(21): Show |
SHOX2 | ENSG00000168779.21 | transcript | ENST00000483851.7 | protein_coding | 5/5 | 1130 | chr3 | TogoVar | ||||||
SHOX2_chr3_158090905_158111420 | 158096889 | AATATATA others(3): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01243.hp1 HG02027.hp2 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0078a0001c0001t0108 | a0001c0001t0022g0025 a0001c0001t0022g0212 a0001c0001t0078g0117 others(1): Show |
6 | 380 | 0.0158 | -10 | c.*11 others(21): Show |
SHOX2 | ENSG00000168779.21 | transcript | ENST00000483851.7 | protein_coding | 5/5 | 1128 | chr3 | TogoVar | ||||||
SHOX2_chr3_158090905_158111420 | 158096922 | ATATATAT others(3): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0091 | a0001c0001t0091g0131 | 1 | 380 | 0.0026 | -10 | c.*10 others(21): Show |
SHOX2 | ENSG00000168779.21 | transcript | ENST00000483851.7 | protein_coding | 5/5 | 1095 | chr3 | TogoVar | ||||||
SHOX2_chr3_158090905_158111420 | 158106571 | CAGAGAGA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01255.hp2 HG02258.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0033a0001c0001t0042others(2): Show | a0001c0001t0007g0015 a0001c0001t0033g0022 a0001c0001t0042g0176 others(2): Show |
7 | 380 | 0.0184 | -10 | c.-55 others(19): Show |
SHOX2 | ENSG00000168779.21 | transcript | ENST00000483851.7 | protein_coding | 152 | chr3 | TogoVar | |||||||
SHOX_chrX_625791_656584 | 626671 | GTATCTCT others(3): Show |
G | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02922.hp2 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0105a0001c0001t0170others(1): Show | a0001c0001t0024g0160 a0001c0001t0105g0129 a0001c0001t0170g0066 others(1): Show |
4 | 220 | 0.0182 | -10 | c.-42 others(21): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 4119 | chrX | TogoVar | |||||||
SHOX_chrX_625791_656584 | 628799 | GTCTGTGT others(3): Show |
G | upstream_gene_variant | MODIFIER | NA18979.hp1 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0114a0001c0001t0168 | a0001c0001t0114g0181 a0001c0001t0168g0174 |
2 | 220 | 0.0091 | -10 | c.-20 others(21): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 1991 | chrX | TogoVar | |||||||
SHOX_chrX_625791_656584 | 635857 | GGAGAGAG others(3): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02818.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0089a0001c0001t0162others(1): Show | a0001c0001t0008g0117 a0001c0001t0008g0130 a0001c0001t0089g0132 others(2): Show |
5 | 220 | 0.0227 | -10 | c.486 others(27): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHOX_chrX_625791_656584 | 645388 | GTATTTTT others(3): Show |
G | 3_prime_UTR_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0193 | a0001c0001t0193g0075 | 1 | 220 | 0.0046 | -10 | c.*75 others(19): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 5/5 | 754 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SHOX_chrX_625791_656584 | 645390 | ATTTTTTT others(3): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01891.hp1 HG02818.hp1 HG03516.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0008a0001c0001t0018a0001c0001t0053others(2): Show | a0001c0001t0008g0117 a0001c0001t0008g0130 a0001c0001t0018g0098 others(3): Show |
6 | 220 | 0.0273 | -10 | c.*77 others(19): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 5/5 | 778 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SHOX_chrX_625791_656584 | 655568 | GTCTCTCT others(3): Show |
G | downstream_gene_variant | MODIFIER | HG01081.hp1 HG02109.hp1 HG02630.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0045a0001c0001t0092others(2): Show | a0001c0001t0007g0076 a0001c0001t0045g0198 a0001c0001t0092g0078 others(2): Show |
5 | 220 | 0.0227 | -10 | c.*10 others(23): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 3985 | chrX | TogoVar | |||||||
SHOX_chrX_625791_656584 | 655606 | CTCTCTCT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0187 | a0001c0001t0187g0071 | 1 | 220 | 0.0046 | -10 | c.*10 others(23): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 4023 | chrX | TogoVar | |||||||
SHOX_chrX_625791_656584 | 655608 | CTCTCTCT others(3): Show |
C | downstream_gene_variant | MODIFIER | NA18988.hp1 NA19090.hp2 |
a0000a0001 | a0000c0002a0001c0001 | a0000c0002t0085a0001c0001t0036 | a0000c0002t0085g0045 a0001c0001t0036g0138 |
2 | 220 | 0.0091 | -10 | c.*10 others(23): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 4025 | chrX | TogoVar | |||||||
SHOX_chrX_625791_656584 | 655614 | CTATATAT others(3): Show |
C | downstream_gene_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0052 | 1 | 220 | 0.0046 | -10 | c.*10 others(23): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 4031 | chrX | TogoVar | |||||||
SHPK_chr17_3603240_3641250 | 3609322 | TGAGAGAG others(3): Show |
T | 3_prime_UTR_variant | MODIFIER | NA19064.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0132 a0001c0001t0015g0155 |
2 | 382 | 0.0052 | -10 | c.*12 others(21): Show |
SHPK | ENSG00000197417.9 | transcript | ENST00000225519.5 | protein_coding | 7/7 | 1228 | chr17 | TogoVar | ||||||
SHPRH_chr6_145879807_145969358 | 145907785 | AAAAACAA others(3): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG00741.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0012 | a0001c0001t0004g0006 a0001c0001t0004g0041 a0001c0001t0004g0235 others(22): Show |
30 | 354 | 0.0848 | -10 | c.451 others(29): Show |
SHPRH | ENSG00000146414.17 | transcript | ENST00000275233.12 | protein_coding | 25/29 | chr6 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72763056 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02717.hp2 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0056 |
3 | 222 | 0.0135 | -10 | c.118 others(31): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 10/10 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72778450 | AAAAAGAA others(3): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0194 a0001c0001t0002g0195 |
2 | 222 | 0.0090 | -10 | c.118 others(31): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 10/10 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72789433 | TGGAAGCC others(3): Show |
T | intron_variant | MODIFIER | HG03453.hp2 HG03486.hp2 |
a0007 | a0007c0009 | a0007c0009t0002 | a0007c0009t0002g0220 a0007c0009t0002g0221 |
2 | 222 | 0.0090 | -10 | c.118 others(29): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 10/10 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72793852 | AGAAATAA others(3): Show |
A | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 222 | 0.0045 | -10 | c.106 others(27): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 9/10 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72796101 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0143 | 1 | 222 | 0.0045 | -10 | c.106 others(29): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 9/10 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72825361 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0021 | 1 | 222 | 0.0045 | -10 | c.600 others(25): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 5/10 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72852100 | CTCTCTCT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02040.hp2 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 a0001c0001t0001g0153 |
2 | 222 | 0.0090 | -10 | c.-37 others(21): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 3656 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72852102 | CTCTCTAT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02258.hp2 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0031 |
2 | 222 | 0.0090 | -10 | c.-37 others(21): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 3658 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72852104 | CTCTATAT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp1 HG03041.hp1 NA20129.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0094 a0001c0001t0002g0195 a0002c0002t0001g0205 |
3 | 222 | 0.0135 | -10 | c.-37 others(21): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 3660 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72852106 | CTATATAT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01255.hp1 HG02896.hp2 HG02897.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0002c0002t0005others(1): Show | a0001c0001t0001g0060 a0002c0002t0001g0013 a0002c0002t0001g0140 others(4): Show |
7 | 222 | 0.0315 | -10 | c.-37 others(21): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 3662 | chr3 | TogoVar | |||||||
SHROOM1_chr5_132817141_132835647 | 132820737 | CTTTTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01243.hp2 HG02055.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0003g0059 others(6): Show |
13 | 396 | 0.0328 | -10 | c.*20 others(21): Show |
SHROOM1 | ENSG00000164403.15 | transcript | ENST00000378679.8 | protein_coding | 1403 | chr5 | TogoVar | |||||||
SHROOM2_chrX_9781429_9954443 | 9784774 | AGCCTTTT others(3): Show |
A | upstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 256 | 0.0039 | -10 | c.-17 others(21): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1654 | chrX | TogoVar | |||||||
SHROOM2_chrX_9781429_9954443 | 9786047 | GCTGGCTC others(3): Show |
G | upstream_gene_variant | MODIFIER | HG06807.hp1 | a0004 | a0004c0015 | a0004c0015t0012 | a0004c0015t0012g0173 | 1 | 256 | 0.0039 | -10 | c.-49 others(19): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 381 | chrX | TogoVar | |||||||
SHROOM2_chrX_9781429_9954443 | 9786082 | ACCCCGAC others(3): Show |
A | upstream_gene_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0013 | a0002c0013t0002 | a0002c0013t0002g0191 | 1 | 256 | 0.0039 | -10 | c.-46 others(19): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 346 | chrX | TogoVar | |||||||
SHROOM2_chrX_9781429_9954443 | 9788936 | CTTTTGTT others(3): Show |
C | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0006 | 1 | 256 | 0.0039 | -10 | c.165 others(27): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9789137 | ATACTTGC others(3): Show |
A | intron_variant | MODIFIER | HG00558.hp2 | a0029 | a0029c0069 | a0029c0069t0001 | a0029c0069t0001g0007 | 1 | 256 | 0.0039 | -10 | c.165 others(27): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | chrX | TogoVar | |||||||
SHROOM2_chrX_9781429_9954443 | 9790110 | CAGGTGGC others(3): Show |
C | intron_variant | MODIFIER | NA18941.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0083 | 1 | 256 | 0.0039 | -10 | c.165 others(27): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | chrX | TogoVar | |||||||
SHROOM2_chrX_9781429_9954443 | 9815434 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp2 others(142): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0003a0001c0007others(44): Show | a0001c0001t0001a0001c0001t0016a0001c0001t0017others(61): Show | a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0018 others(142): Show |
145 | 256 | 0.5664 | -10 | c.165 others(29): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9830584 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02293.hp2 | a0002 | a0002c0011 | a0002c0011t0003 | a0002c0011t0003g0057 | 1 | 256 | 0.0039 | -10 | c.166 others(29): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9891868 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG01175.hp1 |
a0001a0027 | a0001c0007a0027c0051 | a0001c0007t0001a0027c0051t0001 | a0001c0007t0001g0253 a0027c0051t0001g0176 |
2 | 256 | 0.0078 | -10 | c.449 others(25): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9912107 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02258.hp1 others(16): Show |
a0001a0002a0003others(8): Show | a0001c0003a0001c0007a0002c0005others(11): Show | a0001c0003t0001a0001c0007t0001a0002c0005t0002others(13): Show | a0001c0003t0001g0111 a0001c0007t0001g0130 a0002c0005t0002g0237 others(16): Show |
19 | 256 | 0.0742 | -10 | c.289 others(31): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9927356 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02622.hp2 others(10): Show |
a0002a0003a0024others(5): Show | a0002c0002a0002c0005a0002c0013others(8): Show | a0002c0002t0002a0002c0005t0002a0002c0005t0005others(10): Show | a0002c0002t0002g0245 a0002c0005t0002g0147 a0002c0005t0005g0118 others(10): Show |
13 | 256 | 0.0508 | -10 | c.289 others(29): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9930519 | AGAAAAGA others(3): Show |
A | intron_variant | MODIFIER | NA19089.hp1 | a0020 | a0020c0060 | a0020c0060t0003 | a0020c0060t0003g0019 | 1 | 256 | 0.0039 | -10 | c.289 others(29): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 5/9 | chrX | TogoVar | |||||||
SHROOM2_chrX_9781429_9954443 | 9950802 | ATTTTTTT others(3): Show |
A | downstream_gene_variant | MODIFIER | HG02293.hp2 HG02818.hp1 HG02970.hp2 others(1): Show |
a0002a0003a0005 | a0002c0010a0002c0011a0003c0004others(1): Show | a0002c0010t0003a0002c0011t0003a0003c0004t0003others(1): Show | a0002c0010t0003g0227 a0002c0011t0003g0057 a0003c0004t0003g0050 others(1): Show |
4 | 256 | 0.0156 | -10 | c.*38 others(21): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1360 | chrX | TogoVar | |||||||
SHROOM3_chr4_76430229_76788253 | 76488854 | AACTTGTT others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(71): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0015a0001c0019others(21): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0014others(31): Show | a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0018 others(71): Show |
74 | 218 | 0.3395 | -10 | c.168 others(29): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |