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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMS_chrX_21935709_21999837 | 21992671 | AT | A | frameshift_variant | HIGH | NA18978.hp2 | a0004 | a0004c0004 | a0004c0004t0013 | a0004c0004t0013g0293 | 1 | 298 | 0.0034 | -1 | c.102 others(5): Show |
p.Ser others(5): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 10/11 | 1140/1703 | 1024/1101 | 342/366 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
SMS_chrX_21935709_21999837 | 21992939 | CT | C | intron_variant | MODIFIER | NA18978.hp2 | a0004 | a0004c0004 | a0004c0004t0013 | a0004c0004t0013g0293 | 1 | 298 | 0.0034 | -1 | c.106 others(9): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SMS_chrX_21935709_21999837 | 21993655 | AG | A | intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 298 | 0.0034 | -1 | c.106 others(9): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SMS_chrX_21935709_21999837 | 21994531 | GT | G | 3_prime_UTR_variant | MODIFIER | NA18970.hp1 NA18992.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0014 | a0001c0001t0008g0237a0001c0001t0014g0213 | 2 | 298 | 0.0067 | -1 | c.*19 others(5): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 11/11 | 190 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
SMS_chrX_21935709_21999837 | 21994662 | GT | G | 3_prime_UTR_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0047 | 1 | 298 | 0.0034 | -1 | c.*31 others(5): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 11/11 | 315 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
SMS_chrX_21935709_21999837 | 21994794 | TA | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00544.hp1 others(87): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0003g0008a0001c0001t0003g0009a0001c0001t0003g0011others(87): Show | 90 | 298 | 0.3020 | -1 | c.*45 others(5): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 11/11 | 452 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
SMS_chrX_21935709_21999837 | 21995216 | AC | A | downstream_gene_variant | MODIFIER | NA18978.hp2 | a0004 | a0004c0004 | a0004c0004t0013 | a0004c0004t0013g0293 | 1 | 298 | 0.0034 | -1 | c.*86 others(5): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 380 | chrX | TogoVar | ||||||
SMS_chrX_21935709_21999837 | 21995618 | TA | T | downstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 | 1 | 298 | 0.0034 | -1 | c.*12 others(6): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 782 | chrX | TogoVar | ||||||
SMS_chrX_21935709_21999837 | 21995646 | GA | G | downstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 | 1 | 298 | 0.0034 | -1 | c.*12 others(6): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 810 | chrX | TogoVar | ||||||
SMS_chrX_21935709_21999837 | 21995679 | CT | C | downstream_gene_variant | MODIFIER | HG01070.hp2 HG02135.hp1 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0145a0001c0001t0001g0244a0001c0001t0002g0190 | 3 | 298 | 0.0101 | -1 | c.*13 others(6): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 843 | chrX | TogoVar | ||||||
SMS_chrX_21935709_21999837 | 21998363 | CA | C | downstream_gene_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0069 | 1 | 298 | 0.0034 | -1 | c.*40 others(6): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 3527 | chrX | TogoVar | ||||||
SMS_chrX_21935709_21999837 | 21998408 | GA | G | downstream_gene_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0069 | 1 | 298 | 0.0034 | -1 | c.*40 others(6): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 3572 | chrX | TogoVar | ||||||
SMS_chrX_21935709_21999837 | 21998583 | AT | A | downstream_gene_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0069 | 1 | 298 | 0.0034 | -1 | c.*42 others(6): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 3747 | chrX | TogoVar | ||||||
SMS_chrX_21935709_21999837 | 21998632 | GA | G | downstream_gene_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0069 | 1 | 298 | 0.0034 | -1 | c.*42 others(6): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 3796 | chrX | TogoVar | ||||||
SMS_chrX_21935709_21999837 | 21998683 | TC | T | downstream_gene_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0069 | 1 | 298 | 0.0034 | -1 | c.*43 others(6): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 3847 | chrX | TogoVar | ||||||
SMS_chrX_21935709_21999837 | 21999290 | TC | T | downstream_gene_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0069 | 1 | 298 | 0.0034 | -1 | c.*49 others(6): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 4454 | chrX | TogoVar | ||||||
SMS_chrX_21935709_21999837 | 21999539 | AC | A | downstream_gene_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 298 | 0.0034 | -1 | c.*51 others(6): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 4703 | chrX | TogoVar | ||||||
SMS_chrX_21935709_21999837 | 21999804 | TG | T | downstream_gene_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0069 | 1 | 298 | 0.0034 | -1 | c.*54 others(6): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 4968 | chrX | TogoVar | ||||||
SMTNL1_chr11_57532595_57555272 | 57533259 | CA | C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG01069.hp2 others(71): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0005a0001c0009others(6): Show | a0001c0002t0001a0001c0005t0001a0001c0009t0001others(6): Show | a0001c0002t0001g0005a0001c0002t0001g0007a0001c0002t0001g0008others(39): Show | 74 | 366 | 0.2022 | -1 | c.-43 others(6): Show |
SMTNL1 | ENSG00000214872.9 | transcript | ENST00000527972.6 | protein_coding | 4335 | chr11 | TogoVar | ||||||
SMTNL1_chr11_57532595_57555272 | 57544838 | AT | A | intron_variant | MODIFIER | HG02886.hp2 HG02896.hp1 HG03540.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0005a0002c0001 | a0001c0002t0001a0001c0005t0001a0002c0001t0001 | a0001c0002t0001g0086a0001c0005t0001g0029a0001c0005t0001g0052others(3): Show | 7 | 366 | 0.0191 | -1 | c.917 others(8): Show |
SMTNL1 | ENSG00000214872.9 | transcript | ENST00000527972.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SMTNL1_chr11_57532595_57555272 | 57545605 | CA | C | intron_variant | MODIFIER | HG01256.hp1 HG02145.hp2 HG02451.hp2 others(10): Show |
a0001a0010 | a0001c0002a0010c0010 | a0001c0002t0001a0010c0010t0001 | a0001c0002t0001g0013a0001c0002t0001g0036a0001c0002t0001g0059others(6): Show | 13 | 366 | 0.0355 | -1 | c.918 others(8): Show |
SMTNL1 | ENSG00000214872.9 | transcript | ENST00000527972.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SMTNL1_chr11_57532595_57555272 | 57549029 | CT | C | intron_variant | MODIFIER | HG02965.hp2 HG03041.hp1 HG03579.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037a0001c0002t0001g0040a0001c0002t0001g0055others(1): Show | 6 | 366 | 0.0164 | -1 | c.134 others(9): Show |
SMTNL1 | ENSG00000214872.9 | transcript | ENST00000527972.6 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SMTNL1_chr11_57532595_57555272 | 57554915 | AT | A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(161): Show |
a0001a0002a0007others(2): Show | a0001c0002a0001c0005a0002c0001others(3): Show | a0001c0002t0001a0001c0005t0001a0002c0001t0001others(4): Show | a0001c0002t0001g0024a0001c0005t0001g0029a0001c0005t0001g0052others(53): Show | 164 | 366 | 0.4481 | -1 | c.*48 others(6): Show |
SMTNL1 | ENSG00000214872.9 | transcript | ENST00000527972.6 | protein_coding | 4644 | chr11 | TogoVar | ||||||
SMTNL2_chr17_4579529_4613319 | 4583804 | CG | C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(150): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0001c0004others(13): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(19): Show | a0001c0002t0001g0010a0001c0002t0001g0019a0001c0002t0001g0263others(111): Show | 153 | 442 | 0.3462 | -1 | c.-80 others(5): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 724 | chr17 | TogoVar | ||||||
SMTNL2_chr17_4579529_4613319 | 4586459 | TA | T | intron_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG01099.hp2 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0001c0006others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(10): Show | a0001c0002t0001g0044a0001c0002t0001g0229a0001c0002t0001g0233others(17): Show | 21 | 442 | 0.0475 | -1 | c.399 others(9): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SMTNL2_chr17_4579529_4613319 | 4589234 | AG | A | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02055.hp2 others(13): Show |
a0001a0007 | a0001c0002a0001c0003a0001c0006others(2): Show | a0001c0002t0001a0001c0003t0004a0001c0006t0001others(3): Show | a0001c0002t0001g0240a0001c0003t0004g0238a0001c0006t0001g0036others(13): Show | 16 | 442 | 0.0362 | -1 | c.400 others(9): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SMTNL2_chr17_4579529_4613319 | 4594586 | CG | C | intron_variant | MODIFIER | HG02056.hp2 NA18973.hp1 NA18992.hp1 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0020a0002c0001t0001g0260 | 4 | 442 | 0.0091 | -1 | c.807 others(8): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SMTNL2_chr17_4579529_4613319 | 4594710 | CT | C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(152): Show |
a0001a0002a0005 | a0001c0002a0001c0003a0001c0004others(5): Show | a0001c0002t0001a0001c0003t0002a0001c0004t0002others(9): Show | a0001c0002t0001g0071a0001c0002t0001g0090a0001c0002t0001g0150others(107): Show | 155 | 442 | 0.3507 | -1 | c.807 others(8): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SMTNL2_chr17_4579529_4613319 | 4596603 | AG | A | intron_variant | MODIFIER | HG02572.hp1 HG02717.hp1 HG02723.hp1 others(5): Show |
a0001a0003 | a0001c0003a0001c0005a0003c0009 | a0001c0003t0001a0001c0003t0004a0001c0005t0001others(1): Show | a0001c0003t0001g0245a0001c0003t0004g0238a0001c0003t0004g0243others(5): Show | 8 | 442 | 0.0181 | -1 | c.990 others(8): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SMTNL2_chr17_4579529_4613319 | 4598824 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(66): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0005others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(8): Show | a0001c0002t0001g0012a0001c0002t0001g0013a0001c0002t0001g0026others(55): Show | 69 | 442 | 0.1561 | -1 | c.125 others(10): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SMTNL2_chr17_4579529_4613319 | 4600102 | GT | G | intron_variant | MODIFIER | HG01099.hp1 HG01952.hp1 HG02257.hp2 others(5): Show |
a0001a0008 | a0001c0004a0001c0007a0001c0013others(1): Show | a0001c0004t0001a0001c0007t0001a0001c0013t0001others(2): Show | a0001c0004t0001g0032a0001c0007t0001g0203a0001c0007t0001g0249others(4): Show | 8 | 442 | 0.0181 | -1 | c.125 others(10): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 7/7 | chr17 | TogoVar | ||||||
SMTNL2_chr17_4579529_4613319 | 4601689 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(216): Show |
a0001a0002a0005others(1): Show | a0001c0002a0001c0003a0001c0004others(8): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(14): Show | a0001c0002t0001g0012a0001c0002t0001g0013a0001c0002t0001g0026others(157): Show | 219 | 442 | 0.4955 | -1 | c.125 others(10): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SMTNL2_chr17_4579529_4613319 | 4602311 | CT | C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(158): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0001c0004others(10): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(16): Show | a0001c0002t0001g0057a0001c0002t0001g0061a0001c0002t0001g0071others(110): Show | 161 | 442 | 0.3643 | -1 | c.125 others(10): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SMTNL2_chr17_4579529_4613319 | 4605153 | GT | G | intron_variant | MODIFIER | HG01109.hp1 HG01256.hp2 HG01884.hp1 others(14): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0002a0001c0003t0001a0001c0003t0002others(4): Show | a0001c0002t0002g0208a0001c0002t0002g0211a0001c0003t0001g0161others(9): Show | 17 | 442 | 0.0385 | -1 | c.126 others(10): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SMTNL2_chr17_4579529_4613319 | 4605818 | CA | C | intron_variant | MODIFIER | HG01099.hp1 HG01243.hp1 HG01891.hp2 others(22): Show |
a0001a0006a0008 | a0001c0002a0001c0003a0001c0004others(5): Show | a0001c0002t0001a0001c0003t0007a0001c0004t0001others(7): Show | a0001c0002t0001g0178a0001c0002t0001g0206a0001c0003t0007g0250others(21): Show | 25 | 442 | 0.0566 | -1 | c.126 others(10): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 7/7 | chr17 | TogoVar | ||||||
SMTNL2_chr17_4579529_4613319 | 4606125 | CT | C | intron_variant | MODIFIER | HG01109.hp1 HG01261.hp2 HG01884.hp1 others(14): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0002others(2): Show | a0001c0002t0001g0144a0001c0003t0001g0161a0001c0003t0001g0162others(9): Show | 17 | 442 | 0.0385 | -1 | c.126 others(10): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SMTNL2_chr17_4579529_4613319 | 4611781 | AC | A | downstream_gene_variant | MODIFIER | HG02451.hp2 HG02630.hp1 HG03209.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0002t0001g0253a0001c0002t0001g0254a0001c0003t0001g0161others(3): Show | 6 | 442 | 0.0136 | -1 | c.*42 others(6): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 3463 | chr17 | TogoVar | ||||||
SMTN_chr22_31076318_31109624 | 31077395 | CA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(304): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0009a0001c0011others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(29): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0010others(162): Show | 307 | 362 | 0.8481 | -1 | c.-41 others(6): Show |
SMTN | ENSG00000183963.19 | transcript | ENST00000333137.12 | protein_coding | 3922 | chr22 | TogoVar | ||||||
SMTN_chr22_31076318_31109624 | 31078878 | CA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(102): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0009a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0038others(49): Show | 105 | 362 | 0.2901 | -1 | c.-26 others(6): Show |
SMTN | ENSG00000183963.19 | transcript | ENST00000333137.12 | protein_coding | 2439 | chr22 | TogoVar | ||||||
SMTN_chr22_31076318_31109624 | 31086487 | CG | C | intron_variant | MODIFIER | HG01952.hp2 HG02004.hp1 NA18962.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0047a0002c0002t0001g0149a0002c0002t0001g0150 | 4 | 362 | 0.0111 | -1 | c.52- others(8): Show |
SMTN | ENSG00000183963.19 | transcript | ENST00000333137.12 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SMTN_chr22_31076318_31109624 | 31094664 | GT | G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(119): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0011a0001c0012others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(13): Show | a0001c0001t0001g0011a0001c0001t0001g0022a0001c0001t0001g0023others(74): Show | 122 | 362 | 0.3370 | -1 | c.163 others(9): Show |
SMTN | ENSG00000183963.19 | transcript | ENST00000333137.12 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SMTN_chr22_31076318_31109624 | 31101783 | CA | C | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG00733.hp1 others(81): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0002c0013others(4): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(5): Show | a0001c0001t0001g0083a0001c0001t0001g0092a0001c0001t0001g0127others(47): Show | 84 | 362 | 0.2320 | -1 | c.*20 others(8): Show |
SMTN | ENSG00000183963.19 | transcript | ENST00000333137.12 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SMTN_chr22_31076318_31109624 | 31107593 | CG | C | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02630.hp1 HG06807.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0014 | 3 | 362 | 0.0083 | -1 | c.*32 others(6): Show |
SMTN | ENSG00000183963.19 | transcript | ENST00000333137.12 | protein_coding | 2970 | chr22 | TogoVar | ||||||
SMTN_chr22_31076318_31109624 | 31107594 | GC | G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00642.hp2 others(74): Show |
a0001a0002a0007others(2): Show | a0001c0001a0002c0002a0002c0013others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(4): Show | a0001c0001t0001g0083a0002c0002t0001g0027a0002c0002t0001g0047others(43): Show | 77 | 362 | 0.2127 | -1 | c.*33 others(6): Show |
SMTN | ENSG00000183963.19 | transcript | ENST00000333137.12 | protein_coding | 2971 | chr22 | TogoVar | ||||||
SMTN_chr22_31076318_31109624 | 31109544 | AT | A | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG02559.hp2 others(5): Show |
a0001a0003a0005 | a0001c0001a0001c0012a0003c0003others(1): Show | a0001c0001t0001a0001c0012t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0088a0001c0012t0001g0042a0003c0003t0001g0008others(4): Show | 8 | 362 | 0.0221 | -1 | c.*52 others(6): Show |
SMTN | ENSG00000183963.19 | transcript | ENST00000333137.12 | protein_coding | 4921 | chr22 | TogoVar | ||||||
SMU1_chr9_33036765_33081674 | 33037316 | AC | A | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02559.hp1 HG02647.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0001t0013a0001c0001t0035others(8): Show | a0001c0001t0005g0043a0001c0001t0005g0316a0001c0001t0013g0273others(9): Show | 12 | 418 | 0.0287 | -1 | c.*99 others(6): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 4448 | chr9 | TogoVar | ||||||
SMU1_chr9_33036765_33081674 | 33037998 | CT | C | downstream_gene_variant | MODIFIER | HG00544.hp1 HG02027.hp1 HG02055.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0003g0006a0001c0001t0003g0151a0001c0001t0004g0001others(7): Show | 14 | 418 | 0.0335 | -1 | c.*92 others(6): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 3766 | chr9 | TogoVar | ||||||
SMU1_chr9_33036765_33081674 | 33040684 | CA | C | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG02451.hp2 others(8): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(4): Show | a0001c0001t0001g0152a0001c0001t0004g0236a0001c0001t0009g0286others(8): Show | 11 | 418 | 0.0263 | -1 | c.*66 others(6): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 1080 | chr9 | TogoVar | ||||||
SMU1_chr9_33036765_33081674 | 33041586 | CA | C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00642.hp1 HG01069.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0195a0001c0001t0001g0208a0001c0001t0001g0213others(18): Show | 21 | 418 | 0.0502 | -1 | c.*57 others(6): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 178 | chr9 | TogoVar | ||||||
SMU1_chr9_33036765_33081674 | 33041894 | CT | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(117): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(23): Show | a0001c0001t0002g0004a0001c0001t0002g0013a0001c0001t0002g0021others(94): Show | 120 | 418 | 0.2871 | -1 | c.*53 others(6): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 12/12 | 5398 | chr9 | TogoVar |