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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMC5_chr9_70253978_70359873 | 70356946 | AT | A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00544.hp2 others(140): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0005a0001c0010others(8): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0015others(15): Show | a0001c0001t0002g0001a0001c0001t0002g0011a0001c0001t0002g0012others(132): Show | 143 | 366 | 0.3907 | -1 | c.*46 others(6): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 2074 | chr9 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17658966 | AT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(250): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0016others(240): Show | 253 | 254 | 0.9961 | -1 | c.*65 others(6): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4845 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17659044 | CG | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(88): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0016others(82): Show | 91 | 254 | 0.3583 | -1 | c.*64 others(6): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4767 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17664739 | TG | T | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02056.hp1 HG02145.hp1 others(9): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0005a0001c0001t0017a0004c0008t0012 | a0001c0001t0005g0234a0001c0001t0005g0235a0001c0001t0005g0236others(9): Show | 12 | 254 | 0.0472 | -1 | c.*75 others(5): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 28/28 | 759 | chr2 | TogoVar | |||||
SMC6_chr2_17658812_17758810 | 17664987 | AG | A | 3_prime_UTR_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003a0001c0001t0004g0022a0001c0001t0004g0023others(18): Show | 22 | 254 | 0.0866 | -1 | c.*51 others(5): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 28/28 | 511 | chr2 | TogoVar | |||||
SMC6_chr2_17658812_17758810 | 17666820 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0016others(186): Show | 196 | 254 | 0.7717 | -1 | c.306 others(9): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 26/27 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17671383 | AC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(250): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0016others(240): Show | 253 | 254 | 0.9961 | -1 | c.291 others(9): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17671608 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(72): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0142a0001c0001t0001g0143a0001c0001t0002g0111others(72): Show | 75 | 254 | 0.2953 | -1 | c.291 others(10): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17682760 | TA | T | intron_variant | MODIFIER | HG01109.hp2 HG02258.hp2 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139a0001c0001t0001g0140a0001c0001t0001g0141others(3): Show | 6 | 254 | 0.0236 | -1 | c.280 others(9): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 24/27 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17682883 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(117): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(114): Show | 120 | 254 | 0.4724 | -1 | c.280 others(9): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 24/27 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17688315 | TA | T | intron_variant | MODIFIER | HG01099.hp1 HG01168.hp1 HG02074.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0139a0001c0001t0002g0081a0001c0001t0002g0082others(3): Show | 6 | 254 | 0.0236 | -1 | c.267 others(10): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17690630 | AC | A | intron_variant | MODIFIER | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0066 | 3 | 254 | 0.0118 | -1 | c.267 others(10): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17691459 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(122): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0017others(117): Show | 125 | 254 | 0.4921 | -1 | c.267 others(10): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17694000 | CA | C | intron_variant | MODIFIER | HG00639.hp1 HG01168.hp1 HG02451.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0085a0001c0001t0004g0003a0001c0001t0004g0023others(17): Show | 21 | 254 | 0.0827 | -1 | c.267 others(10): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17694984 | AG | A | intron_variant | MODIFIER | HG00099.hp1 HG01081.hp1 HG01256.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0044a0001c0001t0003g0071a0001c0001t0003g0094others(4): Show | 7 | 254 | 0.0276 | -1 | c.267 others(9): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17696611 | AT | A | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003a0001c0001t0004g0022a0001c0001t0004g0023others(18): Show | 22 | 254 | 0.0866 | -1 | c.239 others(9): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17696787 | AG | A | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003a0001c0001t0004g0022a0001c0001t0004g0023others(18): Show | 22 | 254 | 0.0866 | -1 | c.239 others(9): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17703558 | TG | T | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG01891.hp1 others(26): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0002c0003t0001 | a0001c0001t0004g0003a0001c0001t0004g0022a0001c0001t0004g0023others(24): Show | 29 | 254 | 0.1142 | -1 | c.200 others(9): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17704957 | TA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(150): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0016others(142): Show | 153 | 254 | 0.6024 | -1 | c.200 others(10): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17706512 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(78): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0005t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0017others(72): Show | 81 | 254 | 0.3189 | -1 | c.200 others(9): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17714092 | GT | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(87): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(6): Show | a0001c0001t0001g0004a0001c0001t0001g0066a0001c0001t0001g0142others(81): Show | 90 | 254 | 0.3543 | -1 | c.173 others(9): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17721699 | CT | C | intron_variant | MODIFIER | HG02572.hp2 HG02717.hp2 HG03098.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007 | a0001c0001t0001g0004a0001c0001t0001g0066a0001c0001t0001g0147others(3): Show | 8 | 254 | 0.0315 | -1 | c.727 others(8): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 9/27 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17722999 | TA | T | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(46): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0148a0001c0001t0002g0174a0001c0001t0002g0175others(46): Show | 49 | 254 | 0.1929 | -1 | c.727 others(9): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 9/27 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17726087 | TA | T | intron_variant | MODIFIER | HG01069.hp1 HG01168.hp1 HG01175.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0004a0001c0001t0001g0066a0001c0001t0002g0085others(8): Show | 12 | 254 | 0.0472 | -1 | c.624 others(8): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 8/27 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17728558 | AG | A | intron_variant | MODIFIER | NA18953.hp1 NA18968.hp2 NA18979.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0016 | a0001c0001t0003g0059a0001c0001t0003g0072a0001c0001t0003g0074others(6): Show | 9 | 254 | 0.0354 | -1 | c.544 others(9): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17730398 | GA | G | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG01109.hp2 others(24): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0002c0003t0001 | a0001c0001t0001g0139a0001c0001t0001g0140a0001c0001t0001g0141others(23): Show | 27 | 254 | 0.1063 | -1 | c.543 others(8): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17730603 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(74): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0017others(69): Show | 77 | 254 | 0.3032 | -1 | c.543 others(8): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17732698 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(149): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0016others(141): Show | 152 | 254 | 0.5984 | -1 | c.345 others(8): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17736871 | CA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(66): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(5): Show | a0001c0001t0001g0139a0001c0001t0001g0140a0001c0001t0001g0141others(63): Show | 69 | 254 | 0.2717 | -1 | c.344 others(9): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17737733 | GT | G | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02630.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0017others(3): Show | 8 | 254 | 0.0315 | -1 | c.344 others(8): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17740863 | AC | A | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0139a0001c0001t0002g0174a0001c0001t0002g0175others(26): Show | 29 | 254 | 0.1142 | -1 | c.238 others(8): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17745292 | TG | T | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0174a0001c0001t0002g0175a0001c0001t0002g0176others(31): Show | 34 | 254 | 0.1339 | -1 | c.120 others(8): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17745658 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0015 | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(21): Show | 26 | 254 | 0.1024 | -1 | c.120 others(8): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17747489 | CT | C | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG02257.hp2 others(27): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0005t0001 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0017others(24): Show | 30 | 254 | 0.1181 | -1 | c.-5- others(8): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17747507 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0017others(208): Show | 220 | 254 | 0.8661 | -1 | c.-5- others(8): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17750846 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(147): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0017others(140): Show | 150 | 254 | 0.5906 | -1 | c.-6+ others(8): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17751467 | CA | C | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG00639.hp2 others(71): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0017others(68): Show | 74 | 254 | 0.2913 | -1 | c.-6+ others(8): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17754227 | CT | C | upstream_gene_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG02257.hp2 others(27): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0005t0001 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0017others(24): Show | 30 | 254 | 0.1181 | -1 | c.-69 others(5): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 418 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17756502 | AC | A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0147a0001c0001t0002g0174a0001c0001t0002g0175others(43): Show | 46 | 254 | 0.1811 | -1 | c.-29 others(6): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2693 | chr2 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17757246 | CT | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG01069.hp1 others(49): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0147a0001c0001t0002g0174others(48): Show | 52 | 254 | 0.2047 | -1 | c.-37 others(6): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3437 | chr2 | TogoVar | ||||||
SMCHD1_chr18_2650726_2810017 | 2651481 | CA | C | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01884.hp1 HG02451.hp2 others(12): Show |
a0001a0002 | a0001c0005a0002c0016 | a0001c0005t0001a0001c0005t0007a0001c0005t0009others(4): Show | a0001c0005t0001g0259a0001c0005t0007g0022a0001c0005t0007g0023others(12): Show | 15 | 340 | 0.0441 | -1 | c.-45 others(6): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 4244 | chr18 | TogoVar | ||||||
SMCHD1_chr18_2650726_2810017 | 2651637 | CT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(54): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0004a0002c0001others(4): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0015others(12): Show | a0001c0002t0001g0176a0001c0002t0001g0178a0001c0002t0001g0179others(54): Show | 57 | 340 | 0.1677 | -1 | c.-44 others(6): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 4088 | chr18 | TogoVar | ||||||
SMCHD1_chr18_2650726_2810017 | 2654393 | CT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00609.hp2 HG00639.hp1 others(66): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0004a0001c0005others(14): Show | a0001c0002t0002a0001c0002t0003a0001c0004t0002others(29): Show | a0001c0002t0002g0334a0001c0002t0003g0162a0001c0002t0003g0186others(66): Show | 69 | 340 | 0.2029 | -1 | c.-16 others(6): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 1332 | chr18 | TogoVar | ||||||
SMCHD1_chr18_2650726_2810017 | 2659763 | GA | G | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp2 HG00639.hp1 others(38): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0015a0001c0018others(7): Show | a0001c0004t0002a0001c0015t0014a0001c0015t0030others(12): Show | a0001c0004t0002g0142a0001c0004t0002g0152a0001c0004t0002g0153others(38): Show | 41 | 340 | 0.1206 | -1 | c.186 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2660472 | GT | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(58): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0004a0002c0006others(3): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0015others(8): Show | a0001c0002t0001g0176a0001c0002t0001g0178a0001c0002t0001g0179others(58): Show | 61 | 340 | 0.1794 | -1 | c.186 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2661335 | TA | T | intron_variant | MODIFIER | HG00639.hp2 HG01081.hp1 HG01106.hp2 others(57): Show |
a0001a0002a0004others(4): Show | a0001c0002a0001c0005a0001c0007others(11): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0018others(29): Show | a0001c0002t0002g0157a0001c0002t0003g0205a0001c0002t0018g0204others(57): Show | 60 | 340 | 0.1765 | -1 | c.187 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2661979 | AC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(336): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0004a0001c0005others(28): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(79): Show | a0001c0002t0001g0176a0001c0002t0001g0178a0001c0002t0001g0179others(336): Show | 339 | 340 | 0.9971 | -1 | c.187 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2662178 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(45): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0003a0001c0002t0015others(3): Show | a0001c0002t0001g0176a0001c0002t0001g0178a0001c0002t0001g0179others(45): Show | 48 | 340 | 0.1412 | -1 | c.187 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 1/47 | chr18 | TogoVar | ||||||
SMCHD1_chr18_2650726_2810017 | 2662667 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG01081.hp2 HG01099.hp2 others(20): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0001c0005others(3): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0018others(7): Show | a0001c0002t0002g0110a0001c0002t0002g0156a0001c0002t0002g0157others(20): Show | 23 | 340 | 0.0677 | -1 | c.187 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2669043 | TA | T | intron_variant | MODIFIER | HG00558.hp1 HG02129.hp1 HG02896.hp2 others(3): Show |
a0001a0002a0005 | a0001c0004a0001c0005a0002c0001others(2): Show | a0001c0004t0002a0001c0004t0012a0001c0005t0020others(3): Show | a0001c0004t0002g0130a0001c0004t0012g0058a0001c0005t0020g0316others(3): Show | 6 | 340 | 0.0177 | -1 | c.424 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |