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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMIM17_chr19_56638159_56662247 | 56659734 | CT | C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01070.hp2 HG01167.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0003a0001c0001t0002g0024a0001c0001t0002g0080others(8): Show | 13 | 418 | 0.0311 | -1 | c.*45 others(6): Show |
SMIM17 | ENSG00000268182.6 | transcript | ENST00000598409.6 | protein_coding | 2488 | chr19 | TogoVar | ||||||
SMIM17_chr19_56638159_56662247 | 56661899 | GT | G | downstream_gene_variant | MODIFIER | HG00544.hp1 HG01106.hp2 HG01891.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0049a0001c0001t0001g0135a0001c0001t0001g0178others(17): Show | 26 | 418 | 0.0622 | -1 | c.*66 others(6): Show |
SMIM17 | ENSG00000268182.6 | transcript | ENST00000598409.6 | protein_coding | 4653 | chr19 | TogoVar | ||||||
SMIM18_chr8_30633580_30651064 | 30636085 | AC | A | upstream_gene_variant | MODIFIER | HG02723.hp2 HG02818.hp2 HG02895.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0073a0001c0001t0001g0075 | 7 | 430 | 0.0163 | -1 | c.-26 others(6): Show |
SMIM18 | ENSG00000253457.4 | transcript | ENST00000517349.2 | protein_coding | 2494 | chr8 | TogoVar | ||||||
SMIM18_chr8_30633580_30651064 | 30636190 | AG | A | upstream_gene_variant | MODIFIER | HG00738.hp2 HG02109.hp2 HG02145.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0023a0001c0001t0001g0036others(5): Show | 23 | 430 | 0.0535 | -1 | c.-25 others(6): Show |
SMIM18 | ENSG00000253457.4 | transcript | ENST00000517349.2 | protein_coding | 2389 | chr8 | TogoVar | ||||||
SMIM18_chr8_30633580_30651064 | 30636857 | TA | T | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01346.hp1 HG02129.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0055a0001c0001t0002g0003others(3): Show | 8 | 430 | 0.0186 | -1 | c.-18 others(6): Show |
SMIM18 | ENSG00000253457.4 | transcript | ENST00000517349.2 | protein_coding | 1722 | chr8 | TogoVar | ||||||
SMIM18_chr8_30633580_30651064 | 30644587 | CA | C | intron_variant | MODIFIER | HG01261.hp1 HG02602.hp2 HG02735.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0062a0001c0001t0001g0078 | 5 | 430 | 0.0116 | -1 | c.-30 others(7): Show |
SMIM18 | ENSG00000253457.4 | transcript | ENST00000517349.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SMIM18_chr8_30633580_30651064 | 30644750 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(245): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0018others(41): Show | 248 | 430 | 0.5767 | -1 | c.-30 others(8): Show |
SMIM18 | ENSG00000253457.4 | transcript | ENST00000517349.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SMIM18_chr8_30633580_30651064 | 30648429 | CA | C | downstream_gene_variant | MODIFIER | HG00738.hp2 HG02818.hp1 HG02970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0084others(1): Show | 6 | 430 | 0.0140 | -1 | c.*28 others(6): Show |
SMIM18 | ENSG00000253457.4 | transcript | ENST00000517349.2 | protein_coding | 2366 | chr8 | TogoVar | ||||||
SMIM19_chr8_42536585_42560195 | 42537370 | CA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(172): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0010others(64): Show | 175 | 384 | 0.4557 | -1 | c.-50 others(6): Show |
SMIM19 | ENSG00000176209.12 | transcript | ENST00000417410.7 | protein_coding | 4214 | chr8 | TogoVar | ||||||
SMIM19_chr8_42536585_42560195 | 42544048 | TA | T | intron_variant | MODIFIER | HG00735.hp2 HG02055.hp1 HG02451.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0033 | a0001c0001t0003g0009a0001c0001t0003g0017a0001c0001t0003g0024others(5): Show | 20 | 384 | 0.0521 | -1 | c.-5+ others(8): Show |
SMIM19 | ENSG00000176209.12 | transcript | ENST00000417410.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SMIM19_chr8_42536585_42560195 | 42548139 | GC | G | intron_variant | MODIFIER | NA18945.hp2 NA18957.hp1 NA18977.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0070 | 4 | 384 | 0.0104 | -1 | c.135 others(8): Show |
SMIM19 | ENSG00000176209.12 | transcript | ENST00000417410.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SMIM19_chr8_42536585_42560195 | 42551311 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(190): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0010others(66): Show | 193 | 384 | 0.5026 | -1 | c.260 others(9): Show |
SMIM19 | ENSG00000176209.12 | transcript | ENST00000417410.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SMIM19_chr8_42536585_42560195 | 42553052 | CT | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(183): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0010others(63): Show | 186 | 384 | 0.4844 | -1 | c.*46 others(5): Show |
SMIM19 | ENSG00000176209.12 | transcript | ENST00000417410.7 | protein_coding | 4/4 | 463 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||
SMIM19_chr8_42536585_42560195 | 42559307 | TA | T | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00735.hp2 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0001a0001c0001t0003g0009a0001c0001t0003g0017others(15): Show | 45 | 384 | 0.1172 | -1 | c.*67 others(6): Show |
SMIM19 | ENSG00000176209.12 | transcript | ENST00000417410.7 | protein_coding | 4113 | chr8 | TogoVar | ||||||
SMIM1_chr1_3767749_3780956 | 3768088 | CT | C | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00741.hp2 HG01081.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(10): Show | 31 | 420 | 0.0738 | -1 | c.-48 others(6): Show |
SMIM1 | ENSG00000235169.11 | transcript | ENST00000642557.4 | protein_coding | 4660 | chr1 | TogoVar | ||||||
SMIM1_chr1_3767749_3780956 | 3772551 | GC | G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(9): Show | 52 | 420 | 0.1238 | -1 | c.-43 others(5): Show |
SMIM1 | ENSG00000235169.11 | transcript | ENST00000642557.4 | protein_coding | 197 | chr1 | TogoVar | ||||||
SMIM1_chr1_3767749_3780956 | 3776565 | TC | T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG01074.hp2 HG01123.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005a0001c0001t0001g0009a0001c0001t0001g0010others(6): Show | 27 | 420 | 0.0643 | -1 | c.*64 others(5): Show |
SMIM1 | ENSG00000235169.11 | transcript | ENST00000642557.4 | protein_coding | 610 | chr1 | TogoVar | ||||||
SMIM20_chr4_25909220_25934812 | 25915858 | GC | G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp2 others(131): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0055a0001c0001t0001g0058a0001c0001t0001g0062others(41): Show | 134 | 438 | 0.3059 | -1 | c.109 others(9): Show |
SMIM20 | ENSG00000250317.9 | transcript | ENST00000506197.3 | protein_coding | 1/2 | chr4 | TogoVar | ||||||
SMIM20_chr4_25909220_25934812 | 25917186 | AG | A | intron_variant | MODIFIER | HG02135.hp1 HG02523.hp2 NA18991.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041a0001c0001t0003g0094a0001c0001t0003g0146 | 4 | 438 | 0.0091 | -1 | c.109 others(9): Show |
SMIM20 | ENSG00000250317.9 | transcript | ENST00000506197.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SMIM20_chr4_25909220_25934812 | 25918889 | CT | C | intron_variant | MODIFIER | HG02055.hp1 HG02717.hp2 HG02897.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0002 | a0001c0001t0001g0101a0001c0001t0001g0133a0001c0001t0001g0134others(5): Show | 8 | 438 | 0.0183 | -1 | c.109 others(9): Show |
SMIM20 | ENSG00000250317.9 | transcript | ENST00000506197.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SMIM20_chr4_25909220_25934812 | 25919505 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp1 others(64): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0003a0001c0001t0001g0019a0001c0001t0001g0020others(33): Show | 67 | 438 | 0.1530 | -1 | c.109 others(9): Show |
SMIM20 | ENSG00000250317.9 | transcript | ENST00000506197.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SMIM21_chr18_75404476_75432703 | 75404784 | TA | T | downstream_gene_variant | MODIFIER | HG00558.hp2 HG01081.hp1 HG02056.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0026a0001c0001t0001g0105others(14): Show | 29 | 432 | 0.0671 | -1 | c.*60 others(6): Show |
SMIM21 | ENSG00000206026.7 | transcript | ENST00000579022.5 | protein_coding | 4691 | chr18 | TogoVar | ||||||
SMIM21_chr18_75404476_75432703 | 75405350 | CT | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(100): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0024others(48): Show | 103 | 432 | 0.2384 | -1 | c.*55 others(6): Show |
SMIM21 | ENSG00000206026.7 | transcript | ENST00000579022.5 | protein_coding | 4125 | chr18 | TogoVar | ||||||
SMIM21_chr18_75404476_75432703 | 75407849 | GT | G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00741.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0015a0001c0001t0001g0033a0001c0001t0001g0034others(21): Show | 43 | 432 | 0.0995 | -1 | c.*30 others(6): Show |
SMIM21 | ENSG00000206026.7 | transcript | ENST00000579022.5 | protein_coding | 1626 | chr18 | TogoVar | ||||||
SMIM21_chr18_75404476_75432703 | 75407872 | CT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(175): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(92): Show | 178 | 432 | 0.4120 | -1 | c.*29 others(6): Show |
SMIM21 | ENSG00000206026.7 | transcript | ENST00000579022.5 | protein_coding | 1603 | chr18 | TogoVar | ||||||
SMIM21_chr18_75404476_75432703 | 75413118 | GC | G | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG02056.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0014others(1): Show | a0001c0001t0001g0146a0001c0001t0005g0013a0001c0001t0005g0041others(3): Show | 12 | 432 | 0.0278 | -1 | c.261 others(9): Show |
SMIM21 | ENSG00000206026.7 | transcript | ENST00000579022.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
SMIM21_chr18_75404476_75432703 | 75418750 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(279): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(116): Show | 282 | 432 | 0.6528 | -1 | c.260 others(7): Show |
SMIM21 | ENSG00000206026.7 | transcript | ENST00000579022.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
SMIM21_chr18_75404476_75432703 | 75423699 | CA | C | intron_variant | MODIFIER | HG01496.hp2 HG01516.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 3 | 432 | 0.0069 | -1 | c.129 others(9): Show |
SMIM21 | ENSG00000206026.7 | transcript | ENST00000579022.5 | protein_coding | 1/2 | chr18 | TogoVar | ||||||
SMIM21_chr18_75404476_75432703 | 75426631 | TA | T | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp2 HG01257.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0033a0001c0001t0001g0095a0001c0001t0001g0096others(5): Show | 12 | 432 | 0.0278 | -1 | c.129 others(8): Show |
SMIM21 | ENSG00000206026.7 | transcript | ENST00000579022.5 | protein_coding | 1/2 | chr18 | TogoVar | ||||||
SMIM21_chr18_75404476_75432703 | 75429420 | AC | A | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053a0001c0001t0001g0103a0001c0001t0001g0155 | 4 | 432 | 0.0093 | -1 | c.-18 others(6): Show |
SMIM21 | ENSG00000206026.7 | transcript | ENST00000579022.5 | protein_coding | 1718 | chr18 | TogoVar | ||||||
SMIM22_chr16_4790369_4801491 | 4793109 | CA | C | upstream_gene_variant | MODIFIER | HG01168.hp1 HG02976.hp1 HG02976.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004 | 7 | 402 | 0.0174 | -1 | c.-23 others(6): Show |
SMIM22 | ENSG00000267795.6 | transcript | ENST00000586005.6 | protein_coding | 2259 | chr16 | TogoVar | ||||||
SMIM23_chr5_171780817_171796136 | 171781537 | GC | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp1 others(126): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0002g0001others(17): Show | 129 | 430 | 0.3000 | -1 | c.-43 others(6): Show |
SMIM23 | ENSG00000185662.11 | transcript | ENST00000523047.4 | protein_coding | 4279 | chr5 | TogoVar | ||||||
SMIM23_chr5_171780817_171796136 | 171783617 | AG | A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00639.hp1 others(32): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0002 | a0001c0001t0001g0061a0001c0001t0002g0004a0001c0001t0002g0017others(2): Show | 35 | 430 | 0.0814 | -1 | c.-22 others(6): Show |
SMIM23 | ENSG00000185662.11 | transcript | ENST00000523047.4 | protein_coding | 2199 | chr5 | TogoVar | ||||||
SMIM23_chr5_171780817_171796136 | 171784309 | TC | T | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01255.hp1 HG03098.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0028others(1): Show | 7 | 430 | 0.0163 | -1 | c.-15 others(6): Show |
SMIM23 | ENSG00000185662.11 | transcript | ENST00000523047.4 | protein_coding | 1507 | chr5 | TogoVar | ||||||
SMIM23_chr5_171780817_171796136 | 171785401 | GT | G | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02622.hp1 HG02630.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0005a0001c0001t0001g0073a0001c0001t0001g0074others(3): Show | 9 | 430 | 0.0209 | -1 | c.-47 others(5): Show |
SMIM23 | ENSG00000185662.11 | transcript | ENST00000523047.4 | protein_coding | 415 | chr5 | TogoVar | ||||||
SMIM23_chr5_171780817_171796136 | 171787004 | CT | C | intron_variant | MODIFIER | HG00323.hp1 HG01123.hp2 HG01168.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0006a0001c0001t0001g0063a0001c0001t0001g0064others(2): Show | 34 | 430 | 0.0791 | -1 | c.105 others(9): Show |
SMIM23 | ENSG00000185662.11 | transcript | ENST00000523047.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SMIM23_chr5_171780817_171796136 | 171787935 | AT | A | intron_variant | MODIFIER | HG01167.hp1 HG02145.hp1 HG02486.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0024a0001c0001t0001g0043 | 9 | 430 | 0.0209 | -1 | c.105 others(9): Show |
SMIM23 | ENSG00000185662.11 | transcript | ENST00000523047.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SMIM23_chr5_171780817_171796136 | 171788849 | AT | A | intron_variant | MODIFIER | HG00639.hp2 HG02109.hp1 HG02630.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0013a0002c0002t0001g0023a0002c0002t0001g0044others(1): Show | 9 | 430 | 0.0209 | -1 | c.106 others(9): Show |
SMIM23 | ENSG00000185662.11 | transcript | ENST00000523047.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SMIM23_chr5_171780817_171796136 | 171792532 | CA | C | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01074.hp2 HG01243.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0010others(5): Show | 20 | 430 | 0.0465 | -1 | c.*14 others(6): Show |
SMIM23 | ENSG00000185662.11 | transcript | ENST00000523047.4 | protein_coding | 1397 | chr5 | TogoVar | ||||||
SMIM23_chr5_171780817_171796136 | 171793954 | TC | T | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG01109.hp2 others(38): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(15): Show | 41 | 430 | 0.0954 | -1 | c.*28 others(6): Show |
SMIM23 | ENSG00000185662.11 | transcript | ENST00000523047.4 | protein_coding | 2819 | chr5 | TogoVar | ||||||
SMIM24_chr19_3468986_3485525 | 3471617 | CA | C | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02965.hp1 NA18943.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0040a0001c0001t0002g0001others(3): Show | 7 | 422 | 0.0166 | -1 | c.*32 others(6): Show |
SMIM24 | ENSG00000095932.7 | transcript | ENST00000215531.6 | protein_coding | 2368 | chr19 | TogoVar | ||||||
SMIM24_chr19_3468986_3485525 | 3472092 | TG | T | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp1 others(255): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0012others(53): Show | 258 | 422 | 0.6114 | -1 | c.*27 others(6): Show |
SMIM24 | ENSG00000095932.7 | transcript | ENST00000215531.6 | protein_coding | 1893 | chr19 | TogoVar | ||||||
SMIM24_chr19_3468986_3485525 | 3473461 | CA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(231): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0004a0001c0001t0001g0012a0001c0001t0001g0014others(54): Show | 234 | 422 | 0.5545 | -1 | c.*13 others(6): Show |
SMIM24 | ENSG00000095932.7 | transcript | ENST00000215531.6 | protein_coding | 524 | chr19 | TogoVar | ||||||
SMIM24_chr19_3468986_3485525 | 3479713 | CT | C | intron_variant | MODIFIER | HG02145.hp1 HG02559.hp2 HG02717.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0016a0002c0002t0001g0073 | 6 | 422 | 0.0142 | -1 | c.67+ others(7): Show |
SMIM24 | ENSG00000095932.7 | transcript | ENST00000215531.6 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
SMIM24_chr19_3468986_3485525 | 3479714 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(120): Show |
a0001a0003a0005 | a0001c0001a0003c0004a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0004a0001c0001t0001g0014a0001c0001t0001g0021others(27): Show | 123 | 422 | 0.2915 | -1 | c.67+ others(7): Show |
SMIM24 | ENSG00000095932.7 | transcript | ENST00000215531.6 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
SMIM24_chr19_3468986_3485525 | 3484414 | CA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(195): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(56): Show | 198 | 422 | 0.4692 | -1 | c.-39 others(6): Show |
SMIM24 | ENSG00000095932.7 | transcript | ENST00000215531.6 | protein_coding | 3890 | chr19 | TogoVar | ||||||
SMIM24_chr19_3468986_3485525 | 3485287 | AT | A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00438.hp2 others(136): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(28): Show | 139 | 422 | 0.3294 | -1 | c.-48 others(6): Show |
SMIM24 | ENSG00000095932.7 | transcript | ENST00000215531.6 | protein_coding | 4763 | chr19 | TogoVar | ||||||
SMIM26_chr20_18562432_18574560 | 18564131 | CA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(86): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(5): Show | 89 | 440 | 0.2023 | -1 | c.-33 others(6): Show |
SMIM26 | ENSG00000232388.5 | transcript | ENST00000411646.2 | protein_coding | 3300 | chr20 | TogoVar | ||||||
SMIM26_chr20_18562432_18574560 | 18565372 | CT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(117): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(5): Show | 120 | 440 | 0.2727 | -1 | c.-21 others(6): Show |
SMIM26 | ENSG00000232388.5 | transcript | ENST00000411646.2 | protein_coding | 2059 | chr20 | TogoVar | ||||||
SMIM26_chr20_18562432_18574560 | 18566284 | TA | T | upstream_gene_variant | MODIFIER | HG03139.hp1 HG03209.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 3 | 440 | 0.0068 | -1 | c.-11 others(6): Show |
SMIM26 | ENSG00000232388.5 | transcript | ENST00000411646.2 | protein_coding | 1147 | chr20 | TogoVar |