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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMIM12_chr1_34845362_34864749 | 34857096 | GA | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(154): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0029others(37): Show | 157 | 382 | 0.4110 | -1 | c.-5- others(8): Show |
SMIM12 | ENSG00000163866.9 | transcript | ENST00000521580.3 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
SMIM12_chr1_34845362_34864749 | 34858112 | TA | T | intron_variant | MODIFIER | HG00558.hp2 HG01496.hp1 HG01934.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(17): Show | a0001c0001t0001g0029a0001c0001t0001g0097a0001c0001t0003g0096others(19): Show | 24 | 382 | 0.0628 | -1 | c.-6+ others(8): Show |
SMIM12 | ENSG00000163866.9 | transcript | ENST00000521580.3 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
SMIM13_chr6_11088834_11143733 | 11089299 | GT | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00621.hp2 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0018a0001c0001t0001g0052a0001c0001t0001g0091others(39): Show | 44 | 400 | 0.1100 | -1 | c.-50 others(6): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 4534 | chr6 | TogoVar | ||||||
SMIM13_chr6_11088834_11143733 | 11090664 | AT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG01168.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0042a0001c0001t0002g0150a0001c0001t0002g0155others(14): Show | 17 | 400 | 0.0425 | -1 | c.-36 others(6): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 3169 | chr6 | TogoVar | ||||||
SMIM13_chr6_11088834_11143733 | 11092324 | CT | C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00741.hp2 HG01074.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0024 | a0001c0001t0002g0135a0001c0001t0005g0008a0001c0001t0005g0013others(10): Show | 18 | 400 | 0.0450 | -1 | c.-19 others(6): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 1509 | chr6 | TogoVar | ||||||
SMIM13_chr6_11088834_11143733 | 11097668 | CA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(145): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0012a0001c0001t0001g0177a0001c0001t0002g0027others(116): Show | 148 | 400 | 0.3700 | -1 | c.76+ others(8): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMIM13_chr6_11088834_11143733 | 11101032 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp2 others(147): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0007others(106): Show | 150 | 400 | 0.3750 | -1 | c.76+ others(8): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMIM13_chr6_11088834_11143733 | 11101742 | CT | C | intron_variant | MODIFIER | HG00735.hp1 HG01516.hp1 HG01891.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0002g0039a0001c0001t0002g0040a0001c0001t0002g0041others(11): Show | 14 | 400 | 0.0350 | -1 | c.76+ others(8): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMIM13_chr6_11088834_11143733 | 11109730 | AC | A | intron_variant | MODIFIER | HG02615.hp1 HG02809.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0129a0001c0001t0011g0130a0001c0001t0011g0131 | 3 | 400 | 0.0075 | -1 | c.76+ others(9): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 1/1 | chr6 | TogoVar | ||||||
SMIM13_chr6_11088834_11143733 | 11111439 | CT | C | intron_variant | MODIFIER | HG02080.hp2 HG02155.hp1 NA18612.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0114others(3): Show | 8 | 400 | 0.0200 | -1 | c.76+ others(9): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 1/1 | chr6 | TogoVar | ||||||
SMIM13_chr6_11088834_11143733 | 11114592 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(217): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0007others(162): Show | 220 | 400 | 0.5500 | -1 | c.77- others(9): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMIM13_chr6_11088834_11143733 | 11114773 | AT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00642.hp1 others(53): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(7): Show | a0001c0001t0002g0027a0001c0001t0002g0181a0001c0001t0002g0182others(46): Show | 56 | 400 | 0.1400 | -1 | c.77- others(9): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMIM13_chr6_11088834_11143733 | 11115687 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp2 others(153): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0007others(112): Show | 156 | 400 | 0.3900 | -1 | c.77- others(9): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMIM13_chr6_11088834_11143733 | 11116008 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0053a0001c0001t0001g0094a0001c0001t0001g0095others(36): Show | 43 | 400 | 0.1075 | -1 | c.77- others(9): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMIM13_chr6_11088834_11143733 | 11116982 | CT | C | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG00735.hp2 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0002g0129a0001c0001t0003g0205a0001c0001t0003g0216others(39): Show | 48 | 400 | 0.1200 | -1 | c.77- others(9): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMIM13_chr6_11088834_11143733 | 11117165 | AT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00642.hp1 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0098a0001c0001t0002g0027a0001c0001t0002g0181others(46): Show | 56 | 400 | 0.1400 | -1 | c.77- others(9): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMIM13_chr6_11088834_11143733 | 11117339 | AT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(225): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0007others(171): Show | 228 | 400 | 0.5700 | -1 | c.77- others(9): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMIM13_chr6_11088834_11143733 | 11117746 | CT | C | intron_variant | MODIFIER | HG00735.hp1 HG01943.hp2 HG02723.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0009others(3): Show | a0001c0001t0003g0216a0001c0001t0005g0191a0001c0001t0009g0213others(3): Show | 6 | 400 | 0.0150 | -1 | c.77- others(9): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMIM13_chr6_11088834_11143733 | 11126691 | AT | A | intron_variant | MODIFIER | HG00323.hp1 HG00741.hp2 HG01074.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0024 | a0001c0001t0005g0008a0001c0001t0005g0013a0001c0001t0005g0028others(14): Show | 23 | 400 | 0.0575 | -1 | c.77- others(8): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMIM13_chr6_11088834_11143733 | 11128323 | TA | T | intron_variant | MODIFIER | HG02155.hp2 NA18940.hp2 NA18967.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053a0001c0001t0001g0100a0001c0001t0001g0101others(1): Show | 4 | 400 | 0.0100 | -1 | c.77- others(8): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 1/1 | chr6 | TogoVar | ||||||
SMIM13_chr6_11088834_11143733 | 11129078 | CG | C | intron_variant | MODIFIER | HG00323.hp1 HG00741.hp2 HG01074.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0024 | a0001c0001t0005g0008a0001c0001t0005g0013a0001c0001t0005g0028others(14): Show | 23 | 400 | 0.0575 | -1 | c.77- others(8): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMIM13_chr6_11088834_11143733 | 11130253 | TA | T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp2 others(150): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0007others(109): Show | 153 | 400 | 0.3825 | -1 | c.77- others(8): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMIM13_chr6_11088834_11143733 | 11136829 | AT | A | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00642.hp1 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0010others(1): Show | a0001c0001t0006g0006a0001c0001t0006g0034a0001c0001t0006g0268others(35): Show | 44 | 400 | 0.1100 | -1 | c.*22 others(6): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 2/2 | 2228 | chr6 | TogoVar | |||||
SMIM13_chr6_11088834_11143733 | 11137422 | TA | T | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(169): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(15): Show | a0001c0001t0003g0001a0001c0001t0003g0009a0001c0001t0003g0014others(137): Show | 172 | 400 | 0.4300 | -1 | c.*28 others(6): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 2/2 | 2824 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
SMIM13_chr6_11088834_11143733 | 11138048 | CA | C | 3_prime_UTR_variant | MODIFIER | HG02976.hp1 HG03195.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0300a0001c0001t0010g0301a0001c0001t0010g0302 | 3 | 400 | 0.0075 | -1 | c.*34 others(6): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 2/2 | 3448 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
SMIM13_chr6_11088834_11143733 | 11140594 | AC | A | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01123.hp2 HG01261.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023a0001c0001t0002g0137a0001c0001t0002g0153 | 4 | 400 | 0.0100 | -1 | c.*59 others(6): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 1862 | chr6 | TogoVar | ||||||
SMIM13_chr6_11088834_11143733 | 11141719 | GA | G | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG02615.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021 | a0001c0001t0002g0039a0001c0001t0002g0040a0001c0001t0002g0041others(3): Show | 6 | 400 | 0.0150 | -1 | c.*71 others(6): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 2987 | chr6 | TogoVar | ||||||
SMIM13_chr6_11088834_11143733 | 11142013 | CA | C | downstream_gene_variant | MODIFIER | HG00735.hp1 HG02451.hp2 HG02818.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0007a0001c0001t0028others(2): Show | a0001c0001t0003g0201a0001c0001t0003g0203a0001c0001t0007g0285others(3): Show | 6 | 400 | 0.0150 | -1 | c.*74 others(6): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 3281 | chr6 | TogoVar | ||||||
SMIM13_chr6_11088834_11143733 | 11142905 | CT | C | downstream_gene_variant | MODIFIER | HG00735.hp1 HG02451.hp1 HG02723.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0088a0001c0001t0001g0102a0001c0001t0001g0111others(7): Show | 10 | 400 | 0.0250 | -1 | c.*83 others(6): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 4173 | chr6 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39546109 | CA | C | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01884.hp2 HG01943.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(2): Show | a0001c0001t0001g0119a0001c0001t0001g0147a0001c0001t0004g0316others(4): Show | 7 | 344 | 0.0204 | -1 | c.*60 others(6): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 226 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39546131 | AG | A | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01123.hp1 HG01175.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0009others(3): Show | a0001c0001t0002g0033a0001c0001t0002g0040a0001c0001t0002g0053others(16): Show | 19 | 344 | 0.0552 | -1 | c.*59 others(6): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 204 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39547905 | CT | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(149): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(17): Show | a0001c0001t0002g0001a0001c0001t0002g0021a0001c0001t0002g0023others(149): Show | 152 | 344 | 0.4419 | -1 | c.*42 others(6): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 5/5 | 4220 | chr4 | TogoVar | |||||
SMIM14_chr4_39541336_39643865 | 39551724 | TG | T | 3_prime_UTR_variant | MODIFIER | HG01074.hp2 HG01496.hp1 HG04199.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0018 | a0001c0001t0017g0101a0001c0001t0017g0233a0001c0001t0018g0094others(1): Show | 4 | 344 | 0.0116 | -1 | c.*40 others(5): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 5/5 | 401 | chr4 | TogoVar | |||||
SMIM14_chr4_39541336_39643865 | 39554654 | CT | C | intron_variant | MODIFIER | HG01243.hp2 HG02735.hp1 HG02897.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0173a0001c0001t0003g0012a0001c0001t0003g0129others(10): Show | 13 | 344 | 0.0378 | -1 | c.267 others(9): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39554830 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(102): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0225a0001c0001t0002g0001a0001c0001t0002g0021others(102): Show | 105 | 344 | 0.3052 | -1 | c.267 others(9): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39557015 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG01257.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0002g0164a0001c0001t0003g0169a0001c0001t0005g0133others(11): Show | 14 | 344 | 0.0407 | -1 | c.125 others(8): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39561039 | CT | C | intron_variant | MODIFIER | HG00558.hp1 HG00741.hp2 HG01169.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0016a0001c0001t0019others(4): Show | a0001c0001t0003g0006a0001c0001t0003g0012a0001c0001t0003g0013others(49): Show | 52 | 344 | 0.1512 | -1 | c.125 others(9): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39563402 | GC | G | intron_variant | MODIFIER | HG01069.hp1 HG01109.hp2 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0131a0001c0001t0004g0126a0001c0001t0004g0165 | 3 | 344 | 0.0087 | -1 | c.125 others(9): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39565059 | AC | A | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp2 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0179a0001c0001t0001g0198a0001c0001t0001g0199others(2): Show | 5 | 344 | 0.0145 | -1 | c.124 others(9): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39567143 | GA | G | intron_variant | MODIFIER | HG00323.hp2 HG01069.hp2 HG01256.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0046a0001c0001t0001g0111a0001c0001t0001g0179others(20): Show | 23 | 344 | 0.0669 | -1 | c.124 others(9): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39568278 | CA | C | intron_variant | MODIFIER | HG00639.hp1 HG02145.hp1 HG02280.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005 | a0001c0001t0003g0012a0001c0001t0003g0013a0001c0001t0003g0014others(5): Show | 8 | 344 | 0.0233 | -1 | c.124 others(9): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39569736 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(161): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0179a0001c0001t0001g0198a0001c0001t0001g0199others(161): Show | 164 | 344 | 0.4767 | -1 | c.124 others(9): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39570658 | AT | A | intron_variant | MODIFIER | HG00558.hp1 HG00741.hp2 HG01169.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0019a0001c0001t0027others(3): Show | a0001c0001t0003g0006a0001c0001t0003g0012a0001c0001t0003g0013others(47): Show | 50 | 344 | 0.1454 | -1 | c.124 others(9): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39572277 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00639.hp2 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0001g0046a0001c0001t0001g0120a0001c0001t0001g0147others(48): Show | 51 | 344 | 0.1483 | -1 | c.124 others(8): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39574237 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00558.hp1 others(86): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0142a0001c0001t0001g0147a0001c0001t0003g0012others(86): Show | 89 | 344 | 0.2587 | -1 | c.76- others(8): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39575079 | GT | G | intron_variant | MODIFIER | HG01099.hp2 HG02040.hp1 HG02622.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0116a0001c0001t0001g0225a0001c0001t0003g0240others(6): Show | 9 | 344 | 0.0262 | -1 | c.76- others(8): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39575749 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00609.hp1 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0046a0001c0001t0001g0120a0001c0001t0001g0142others(62): Show | 65 | 344 | 0.1890 | -1 | c.76- others(8): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39575897 | CT | C | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02451.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0019 | a0001c0001t0003g0129a0001c0001t0003g0158a0001c0001t0003g0166others(13): Show | 16 | 344 | 0.0465 | -1 | c.76- others(8): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39576684 | AT | A | intron_variant | MODIFIER | HG01081.hp1 HG01243.hp1 HG01928.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0046a0001c0001t0001g0103a0001c0001t0001g0117others(12): Show | 15 | 344 | 0.0436 | -1 | c.76- others(8): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39577430 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(156): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0106others(156): Show | 159 | 344 | 0.4622 | -1 | c.76- others(8): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar |