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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMIM12_chr1_34845362_34864749 | 34852463 | CAAAAAAA others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01934.hp2 HG02257.hp1 HG02723.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0046a0001c0001t0132a0001c0001t0138others(2): Show | a0001c0001t0046g0061 a0001c0001t0046g0062 a0001c0001t0132g0166 others(3): Show |
6 | 382 | 0.0157 | -10 | c.*32 others(21): Show |
SMIM12 | ENSG00000163866.9 | transcript | ENST00000521580.3 | protein_coding | 2/2 | 3226 | chr1 | TogoVar | ||||||
SMIM13_chr6_11088834_11143733 | 11089299 | GTTTTTTT others(3): Show |
G | upstream_gene_variant | MODIFIER | HG01123.hp2 HG01261.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 2 | 400 | 0.0050 | -10 | c.-50 others(21): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 4534 | chr6 | TogoVar | |||||||
SMIM13_chr6_11088834_11143733 | 11116008 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00642.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0002g0027 a0001c0001t0002g0181 a0001c0001t0002g0182 others(40): Show |
50 | 400 | 0.1250 | -10 | c.77- others(27): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39543003 | TTCATGAT others(3): Show |
T | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00741.hp2 HG01169.hp1 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0003g0006 a0001c0001t0003g0012 a0001c0001t0003g0013 others(46): Show |
49 | 344 | 0.1424 | -10 | c.*91 others(21): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 3332 | chr4 | TogoVar | |||||||
SMIM14_chr4_39541336_39643865 | 39576684 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02895.hp2 NA18982.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012 | a0001c0001t0005g0265 a0001c0001t0005g0295 a0001c0001t0012g0027 others(2): Show |
5 | 344 | 0.0145 | -10 | c.76- others(25): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
SMIM14_chr4_39541336_39643865 | 39619744 | ATATAATT others(3): Show |
A | intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0213 | 1 | 344 | 0.0029 | -10 | c.-35 others(29): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
SMIM14_chr4_39541336_39643865 | 39623329 | AAAGGTTT others(3): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0048 | 1 | 344 | 0.0029 | -10 | c.-36 others(29): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
SMIM14_chr4_39541336_39643865 | 39632775 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01081.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 others(21): Show |
24 | 344 | 0.0698 | -10 | c.-36 others(27): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
SMIM14_chr4_39541336_39643865 | 39632822 | CACACAAA others(3): Show |
C | intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 344 | 0.0029 | -10 | c.-36 others(27): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
SMIM15_chr5_61152704_61167468 | 61154007 | ATGTGTGT others(3): Show |
A | downstream_gene_variant | MODIFIER | HG00544.hp2 HG02615.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0004a0003c0004t0041 | a0001c0001t0004g0006 a0003c0004t0041g0062 |
2 | 366 | 0.0055 | -10 | c.*59 others(21): Show |
SMIM15 | ENSG00000188725.8 | transcript | ENST00000339020.8 | protein_coding | 3696 | chr5 | TogoVar | |||||||
SMIM17_chr19_56638159_56662247 | 56647420 | TGAGAGAG others(3): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp2 HG02622.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010a0001c0001t0030others(1): Show | a0001c0001t0006g0094 a0001c0001t0010g0021 a0001c0001t0010g0205 others(4): Show |
9 | 418 | 0.0215 | -10 | c.170 others(25): Show |
SMIM17 | ENSG00000268182.6 | transcript | ENST00000598409.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SMIM18_chr8_30633580_30651064 | 30642331 | TTACTCCA others(3): Show |
T | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 430 | 0.0023 | -10 | c.-11 others(29): Show |
SMIM18 | ENSG00000253457.4 | transcript | ENST00000517349.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SMIM18_chr8_30633580_30651064 | 30646979 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02809.hp1 HG02886.hp1 HG02886.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 4 | 430 | 0.0093 | -10 | c.*13 others(21): Show |
SMIM18 | ENSG00000253457.4 | transcript | ENST00000517349.2 | protein_coding | 916 | chr8 | TogoVar | |||||||
SMIM21_chr18_75404476_75432703 | 75426631 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02056.hp2 HG02109.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0087 others(5): Show |
25 | 432 | 0.0579 | -10 | c.129 others(25): Show |
SMIM21 | ENSG00000206026.7 | transcript | ENST00000579022.5 | protein_coding | 1/2 | chr18 | TogoVar | |||||||
SMIM22_chr16_4790369_4801491 | 4795693 | AGCCTCTG others(3): Show |
A | intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 402 | 0.0025 | -10 | c.-20 others(23): Show |
SMIM22 | ENSG00000267795.6 | transcript | ENST00000586005.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SMIM23_chr5_171780817_171796136 | 171787004 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG03942.hp1 NA18949.hp2 NA18989.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 4 | 430 | 0.0093 | -10 | c.105 others(27): Show |
SMIM23 | ENSG00000185662.11 | transcript | ENST00000523047.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SMIM24_chr19_3468986_3485525 | 3477877 | GGTGGATG others(3): Show |
G | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 422 | 0.0024 | -10 | c.239 others(25): Show |
SMIM24 | ENSG00000095932.7 | transcript | ENST00000215531.6 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
SMIM26_chr20_18562432_18574560 | 18565372 | CTTTTTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 440 | 0.0023 | -10 | c.-21 others(21): Show |
SMIM26 | ENSG00000232388.5 | transcript | ENST00000411646.2 | protein_coding | 2059 | chr20 | TogoVar | |||||||
SMIM26_chr20_18562432_18574560 | 18573913 | CTTTTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01099.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 2 | 440 | 0.0046 | -10 | c.*45 others(21): Show |
SMIM26 | ENSG00000232388.5 | transcript | ENST00000411646.2 | protein_coding | 4354 | chr20 | TogoVar | |||||||
SMIM2_chr13_44138150_44166257 | 44142132 | CCTCGGCT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG00741.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0028 others(2): Show |
10 | 380 | 0.0263 | -10 | c.*17 others(21): Show |
SMIM2 | ENSG00000139656.8 | transcript | ENST00000400419.2 | protein_coding | 1017 | chr13 | TogoVar | |||||||
SMIM31_chr4_164749131_164808795 | 164755539 | AGGAGGGG others(3): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02630.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0021a0001c0001t0022 | a0001c0001t0020g0154 a0001c0001t0021g0155 a0001c0001t0022g0156 |
3 | 364 | 0.0082 | -10 | c.-26 others(27): Show |
SMIM31 | ENSG00000248771.5 | transcript | ENST00000507311.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SMIM31_chr4_164749131_164808795 | 164758801 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02602.hp2 HG03669.hp1 NA18944.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0082 a0001c0001t0001g0262 a0001c0001t0002g0123 others(2): Show |
5 | 364 | 0.0137 | -10 | c.-26 others(27): Show |
SMIM31 | ENSG00000248771.5 | transcript | ENST00000507311.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SMIM33_chr5_139466004_139478700 | 139478673 | GCCCTCCC others(3): Show |
G | downstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 416 | 0.0024 | -10 | c.*57 others(21): Show |
SMIM33 | ENSG00000283288.2 | transcript | ENST00000637503.2 | protein_coding | 4974 | chr5 | TogoVar | |||||||
SMIM35_chr11_117998634_118091963 | 118053307 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG01261.hp1 HG01934.hp2 others(12): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0211 others(12): Show |
15 | 408 | 0.0368 | -10 | c.7+3 others(25): Show |
SMIM35 | ENSG00000255274.10 | transcript | ENST00000689828.1 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
SMIM35_chr11_117998634_118091963 | 118067860 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0024 a0001c0001t0003g0035 a0001c0001t0003g0111 others(23): Show |
26 | 408 | 0.0637 | -10 | c.7+1 others(25): Show |
SMIM35 | ENSG00000255274.10 | transcript | ENST00000689828.1 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
SMIM35_chr11_117998634_118091963 | 118078013 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG03041.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0012a0002c0002t0007 | a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0012g0032 others(1): Show |
4 | 408 | 0.0098 | -10 | c.7+8 others(23): Show |
SMIM35 | ENSG00000255274.10 | transcript | ENST00000689828.1 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55493808 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0148 a0001c0001t0010g0149 |
2 | 340 | 0.0059 | -10 | c.*17 others(31): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55498371 | GACAGCTG others(3): Show |
G | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 340 | 0.0029 | -10 | c.*17 others(31): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55508431 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0326 | 1 | 340 | 0.0029 | -10 | c.*17 others(29): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55510216 | GTATGCAT others(3): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(94): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0009others(3): Show | a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0159 others(91): Show |
97 | 340 | 0.2853 | -10 | c.*17 others(27): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMIM3_chr5_150773757_150801734 | 150785580 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00558.hp2 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 2 | 406 | 0.0049 | -10 | c.-12 others(27): Show |
SMIM3 | ENSG00000256235.3 | transcript | ENST00000526627.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SMIM3_chr5_150773757_150801734 | 150797288 | TTATATAC others(3): Show |
T | downstream_gene_variant | MODIFIER | HG00423.hp2 HG02622.hp2 HG02738.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 a0001c0001t0002g0023 a0001c0001t0002g0031 others(6): Show |
14 | 406 | 0.0345 | -10 | c.*16 others(21): Show |
SMIM3 | ENSG00000256235.3 | transcript | ENST00000526627.2 | protein_coding | 555 | chr5 | TogoVar | |||||||
SMIM40_chr6_33318628_33334279 | 33324882 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02055.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0113 a0001c0001t0001g0118 others(1): Show |
5 | 383 | 0.0131 | -10 | c.*40 others(25): Show |
SMIM40 | ENSG00000286920.2 | transcript | ENST00000494082.3 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
SMIM41_chr12_52074704_52113255 | 52089597 | AAAAACAA others(3): Show |
A | intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 382 | 0.0026 | -10 | c.*19 others(29): Show |
SMIM41 | ENSG00000284791.2 | transcript | ENST00000546390.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SMIM44_chr19_3477110_3488441 | 3477877 | GGTGGATG others(3): Show |
G | downstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 400 | 0.0025 | -10 | c.*49 others(21): Show |
SMIM44 | ENSG00000284638.2 | transcript | ENST00000641816.2 | protein_coding | 4232 | chr19 | TogoVar | |||||||
SMIM45_chr22_41947150_41963939 | 41953740 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG01433.hp1 HG01884.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0011 a0001c0001t0004g0022 a0001c0001t0004g0038 others(9): Show |
28 | 382 | 0.0733 | -10 | c.-15 others(27): Show |
SMIM45 | ENSG00000205704.9 | transcript | ENST00000381348.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SMIM46_chr19_14107324_14117476 | 14109937 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 368 | 0.0027 | -10 | c.*23 others(21): Show |
SMIM46 | ENSG00000289762.1 | transcript | ENST00000699221.1 | protein_coding | 2386 | chr19 | TogoVar | |||||||
SMIM46_chr19_14107324_14117476 | 14109957 | AAAAAAAA others(3): Show |
A | downstream_gene_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 368 | 0.0027 | -10 | c.*23 others(21): Show |
SMIM46 | ENSG00000289762.1 | transcript | ENST00000699221.1 | protein_coding | 2366 | chr19 | TogoVar | |||||||
SMIM46_chr19_14107324_14117476 | 14109959 | AAAAAAAA others(3): Show |
A | downstream_gene_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 368 | 0.0027 | -10 | c.*23 others(21): Show |
SMIM46 | ENSG00000289762.1 | transcript | ENST00000699221.1 | protein_coding | 2364 | chr19 | TogoVar | |||||||
SMIM46_chr19_14107324_14117476 | 14109963 | AAAATATA others(3): Show |
A | downstream_gene_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 368 | 0.0027 | -10 | c.*23 others(21): Show |
SMIM46 | ENSG00000289762.1 | transcript | ENST00000699221.1 | protein_coding | 2360 | chr19 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50786849 | TATACACA others(3): Show |
T | upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | -10 | c.-75 others(19): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 690 | chr19 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50786851 | TACACACA others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00733.hp2 HG00741.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
46 | 352 | 0.1307 | -10 | c.-75 others(19): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 692 | chr19 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50790736 | GGGTGGGG others(3): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | -10 | c.-46 others(21): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 4577 | chr19 | TogoVar | |||||||
SMIM8_chr6_87317588_87347329 | 87339325 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02055.hp2 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(8): Show | a0001c0001t0002g0178 a0001c0001t0002g0211 a0001c0001t0002g0229 others(15): Show |
23 | 420 | 0.0548 | -10 | c.136 others(25): Show |
SMIM8 | ENSG00000111850.11 | transcript | ENST00000392863.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMIM8_chr6_87317588_87347329 | 87339426 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02886.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0021 a0001c0002t0010g0101 |
4 | 420 | 0.0095 | -10 | c.136 others(25): Show |
SMIM8 | ENSG00000111850.11 | transcript | ENST00000392863.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMKR1_chr7_129497531_129517918 | 129499488 | CTTTTTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01081.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 2 | 422 | 0.0047 | -10 | c.-33 others(21): Show |
SMKR1 | ENSG00000240204.3 | transcript | ENST00000462322.3 | protein_coding | 3042 | chr7 | TogoVar | |||||||
SMN2_chr5_70044669_70082595 | 70046392 | CCTTTTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00621.hp1 HG00741.hp1 HG01070.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0003t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(19): Show |
23 | 108 | 0.2130 | -10 | c.-32 others(21): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 3276 | chr5 | TogoVar | |||||||
SMOC1_chr14_69874416_70037366 | 69878699 | ATGTGTGT others(3): Show |
A | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02965.hp2 HG03710.hp1 |
a0001a0005 | a0001c0001a0005c0013 | a0001c0001t0006a0001c0001t0020a0005c0013t0023 | a0001c0001t0006g0080 a0001c0001t0020g0096 a0005c0013t0023g0027 |
3 | 270 | 0.0111 | -10 | c.-97 others(19): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 716 | chr14 | TogoVar | |||||||
SMOC1_chr14_69874416_70037366 | 69961272 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01167.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0179 a0001c0002t0002g0234 a0001c0002t0002g0236 |
3 | 270 | 0.0111 | -10 | c.378 others(27): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168467136 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG01891.hp2 NA19030.hp2 |
a0001a0002 | a0001c0001a0002c0010 | a0001c0001t0006a0002c0010t0001 | a0001c0001t0006g0160 a0002c0010t0001g0130 |
2 | 180 | 0.0111 | -10 | c.84+ others(27): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |