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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SFRP4_chr7_37900932_37921817 | 37905472 | CTATCTAT others(17): Show |
C | downstream_gene_variant | MODIFIER | HG00639.hp2 HG02559.hp2 HG02809.hp1 others(1): Show |
a0003 | a0003c0002a0003c0010 | a0003c0002t0005a0003c0002t0011a0003c0010t0014 | a0003c0002t0005g0005a0003c0002t0011g0022a0003c0010t0014g0024 | 4 | 472 | 0.0085 | -24 | c.*19 others(35): Show |
SFRP4 | ENSG00000106483.12 | transcript | ENST00000436072.7 | protein_coding | 459 | chr7 | TogoVar | ||||||
SFRP4_chr7_37900932_37921817 | 37905476 | CTATCTAT others(17): Show |
C | downstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0004 | a0001c0004t0016 | a0001c0004t0016g0027 | 1 | 472 | 0.0021 | -24 | c.*19 others(35): Show |
SFRP4 | ENSG00000106483.12 | transcript | ENST00000436072.7 | protein_coding | 455 | chr7 | TogoVar | ||||||
SFTPC_chr8_22156798_22169479 | 22163260 | CCCAGCTG others(17): Show |
C | intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 466 | 0.0022 | -24 | c.324 others(37): Show |
SFTPC | ENSG00000168484.13 | transcript | ENST00000679463.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SFTPC_chr8_22156798_22169479 | 22165882 | CGTGTGTG others(17): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01074.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004a0001c0001t0003g0010a0001c0001t0003g0011 | 16 | 466 | 0.0343 | -24 | c.*16 others(35): Show |
SFTPC | ENSG00000168484.13 | transcript | ENST00000679463.1 | protein_coding | 1404 | chr8 | TogoVar | ||||||
SFXN1_chr5_175473560_175534742 | 175524125 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0064 | a0001c0002t0064g0148 | 1 | 372 | 0.0027 | -24 | c.872 others(41): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SGCA_chr17_50161005_50180928 | 50166773 | TCACACAC others(17): Show |
T | intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 416 | 0.0024 | -24 | c.38- others(37): Show |
SGCA | ENSG00000108823.17 | transcript | ENST00000262018.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SGCB_chr4_52015706_52043299 | 52031392 | CTGTGTGT others(17): Show |
C | intron_variant | MODIFIER | HG01952.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074a0001c0001t0002g0075 | 2 | 368 | 0.0054 | -24 | c.244 others(41): Show |
SGCB | ENSG00000163069.13 | transcript | ENST00000381431.10 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156524094 | CTATATAT others(17): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01169.hp2 HG01256.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0030others(5): Show | a0001c0001t0001g0015a0001c0001t0001g0050a0001c0001t0001g0133others(7): Show | 10 | 150 | 0.0667 | -24 | c.294 others(43): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SGCD_chr5_156322164_156772788 | 156695487 | AGATAGAT others(17): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG01243.hp2 HG01891.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0001g0122a0001c0001t0005g0129a0001c0001t0005g0130others(17): Show | 20 | 150 | 0.1333 | -24 | c.575 others(43): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SGCD_chr5_156322164_156772788 | 156695511 | GGATAGAT others(17): Show |
G | intron_variant | MODIFIER | HG02257.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0047 | a0001c0001t0001g0052a0001c0001t0047g0003 | 2 | 150 | 0.0133 | -24 | c.575 others(43): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SGCD_chr5_156322164_156772788 | 156696915 | AACACACA others(17): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG02559.hp1 HG04115.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0004a0002c0003t0003a0002c0003t0017 | a0001c0002t0004g0088a0002c0003t0003g0140a0002c0003t0017g0014 | 3 | 150 | 0.0200 | -24 | c.575 others(43): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SGCE_chr7_94579980_94661133 | 94615365 | AATAGATA others(17): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0346a0001c0001t0001g0359 | 2 | 390 | 0.0051 | -24 | c.662 others(41): Show |
SGCE | ENSG00000127990.19 | transcript | ENST00000648936.2 | protein_coding | 5/10 | chr7 | TogoVar | ||||||
SGCG_chr13_23175979_23330162 | 23281341 | GTAATAAT others(17): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(119): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0004a0001c0001t0001g0014a0001c0001t0001g0047others(119): Show | 122 | 354 | 0.3446 | -24 | c.505 others(41): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SGCG_chr13_23175979_23330162 | 23304979 | TCACAGGC others(17): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG01069.hp2 others(37): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0003t0004others(8): Show | a0001c0001t0002g0312a0001c0003t0002g0204a0001c0003t0004g0025others(37): Show | 40 | 354 | 0.1130 | -24 | c.578 others(41): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SGCZ_chr8_14079845_15243431 | 14209823 | AAAAATAT others(17): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00642.hp1 others(87): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(79): Show | a0001c0001t0001g0076a0001c0001t0001g0080a0001c0001t0002g0086others(87): Show | 90 | 102 | 0.8824 | -24 | c.424 others(43): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 4/7 | chr8 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 14325747 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG02055.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0016a0001c0001t0019others(6): Show | a0001c0001t0003g0020a0001c0001t0003g0021a0001c0001t0016g0017others(7): Show | 10 | 102 | 0.0980 | -24 | c.235 others(41): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 2/7 | chr8 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 14427064 | ATGAGTGA others(17): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG02109.hp2 HG02717.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0037a0001c0001t0038others(7): Show | a0001c0001t0029g0016a0001c0001t0037g0032a0001c0001t0038g0023others(7): Show | 10 | 102 | 0.0980 | -24 | c.235 others(45): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 2/7 | chr8 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 14702813 | GTAGATAG others(17): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG01074.hp2 HG01243.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0014others(4): Show | a0001c0001t0002g0095a0001c0001t0005g0091a0001c0001t0014g0024others(4): Show | 7 | 102 | 0.0686 | -24 | c.40- others(43): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 14847126 | AAAGAAGA others(17): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0033 | a0001c0001t0011g0042a0001c0001t0033g0003 | 2 | 102 | 0.0196 | -24 | c.40- others(43): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 15008750 | GGGGGAGG others(17): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp2 HG01109.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0006a0001c0001t0010others(15): Show | a0001c0001t0005g0091a0001c0001t0006g0092a0001c0001t0010g0002others(15): Show | 18 | 102 | 0.1765 | -24 | c.39+ others(43): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 15097820 | GTGTATAT others(17): Show |
G | intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0069 | a0001c0001t0069g0096 | 1 | 102 | 0.0098 | -24 | c.39+ others(43): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 15232682 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 102 | 0.0098 | -24 | c.39+ others(39): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
SGF29_chr16_28548920_28596790 | 28564594 | CACATATA others(17): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0294 | 1 | 346 | 0.0029 | -24 | c.-16 others(43): Show |
SGF29 | ENSG00000176476.9 | transcript | ENST00000317058.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SGF29_chr16_28548920_28596790 | 28564768 | TATATGTA others(17): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 346 | 0.0029 | -24 | c.-16 others(43): Show |
SGF29 | ENSG00000176476.9 | transcript | ENST00000317058.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SGIP1_chr1_66529153_66756139 | 66549137 | GCCTTCCT others(17): Show |
G | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 302 | 0.0033 | -24 | c.10+ others(41): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SGIP1_chr1_66529153_66756139 | 66589163 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG02622.hp1 HG03209.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0005a0002c0003t0058 | a0001c0001t0001g0163a0001c0001t0005g0232a0002c0003t0058g0214 | 3 | 302 | 0.0099 | -24 | c.11- others(41): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SGIP1_chr1_66529153_66756139 | 66630801 | CGGAAAGA others(17): Show |
C | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0019 | 1 | 302 | 0.0033 | -24 | c.75- others(39): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 2/24 | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66630802 | GGAAAGAA others(17): Show |
G | intron_variant | MODIFIER | HG03130.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0157a0001c0001t0008g0158 | 2 | 302 | 0.0066 | -24 | c.75- others(39): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SGIP1_chr1_66529153_66756139 | 66631044 | GAAGAAAG others(17): Show |
G | intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0142 | 1 | 302 | 0.0033 | -24 | c.75- others(39): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SGK3_chr8_66707781_66867022 | 66839498 | GATATATA others(17): Show |
G | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 142 | 0.0070 | -24 | c.742 others(39): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SGK3_chr8_66707781_66867022 | 66839535 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0009 | 1 | 142 | 0.0070 | -24 | c.742 others(39): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SGK3_chr8_66707781_66867022 | 66845693 | CTTATTTA others(17): Show |
C | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0005 | 1 | 142 | 0.0070 | -24 | c.107 others(43): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SGMS1_chr10_50300600_50628956 | 50400396 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0218 | 1 | 312 | 0.0032 | -24 | c.-23 others(45): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 6/10 | chr10 | TogoVar | ||||||
SGMS1_chr10_50300600_50628956 | 50607213 | GCTCAAAC others(17): Show |
G | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0264 | 1 | 312 | 0.0032 | -24 | c.-68 others(45): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
SGPP1_chr14_63679216_63733065 | 63718994 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02970.hp2 HG03225.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0010 | a0001c0002t0003g0039a0001c0002t0010g0031a0001c0002t0010g0033 | 3 | 288 | 0.0104 | -24 | c.684 others(41): Show |
SGPP1 | ENSG00000126821.8 | transcript | ENST00000247225.7 | protein_coding | 1/2 | chr14 | TogoVar | ||||||
SGPP1_chr14_63679216_63733065 | 63719000 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02630.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0008 | a0001c0002t0003g0019a0001c0002t0003g0021a0001c0002t0003g0023others(3): Show | 6 | 288 | 0.0208 | -24 | c.684 others(41): Show |
SGPP1 | ENSG00000126821.8 | transcript | ENST00000247225.7 | protein_coding | 1/2 | chr14 | TogoVar | ||||||
SGPP2_chr2_222419543_222567621 | 222467950 | GAAAAAAA others(17): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0005 | a0001c0005t0036 | a0001c0005t0036g0244 | 1 | 272 | 0.0037 | -24 | c.220 others(41): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SGSM1_chr22_24801211_24932578 | 24845941 | TTTTCTTT others(17): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG01243.hp1 HG01258.hp1 others(11): Show |
a0001a0002a0011 | a0001c0001a0002c0002a0011c0024 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0054a0001c0001t0001g0139a0001c0001t0001g0279others(11): Show | 14 | 338 | 0.0414 | -24 | c.139 others(41): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SGSM1_chr22_24801211_24932578 | 24900340 | CTTCTTTC others(17): Show |
C | intron_variant | MODIFIER | HG04199.hp2 NA18953.hp1 NA18993.hp1 |
a0002 | a0002c0002a0002c0012 | a0002c0002t0014a0002c0012t0003 | a0002c0002t0014g0183a0002c0002t0014g0186a0002c0012t0003g0015 | 3 | 338 | 0.0089 | -24 | c.261 others(43): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 19/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SGSM1_chr22_24801211_24932578 | 24907260 | CAAATAAA others(17): Show |
C | intron_variant | MODIFIER | HG02056.hp1 HG02056.hp2 HG02165.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0004t0002a0001c0004t0006 | a0001c0001t0006g0098a0001c0001t0006g0113a0001c0001t0006g0117others(6): Show | 9 | 338 | 0.0266 | -24 | c.281 others(43): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SH2B2_chr7_102281868_102326711 | 102322686 | CCCTTCCT others(17): Show |
C | downstream_gene_variant | MODIFIER | HG02055.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0256a0001c0001t0002g0147 | 2 | 406 | 0.0049 | -24 | c.*10 others(35): Show |
SH2B2 | ENSG00000160999.11 | transcript | ENST00000444095.3 | protein_coding | 976 | chr7 | TogoVar | ||||||
SH2B3_chr12_111400923_111456623 | 111448011 | CTCCCTTC others(17): Show |
C | disruptive_inframe_deletion | MODERATE | HG02738.hp1 | a0008 | a0008c0012 | a0008c0012t0002 | a0008c0012t0002g0161 | 1 | 326 | 0.0031 | -24 | c.145 others(33): Show |
p.Asp others(13): Show |
SH2B3 | ENSG00000111252.11 | transcript | ENST00000341259.7 | protein_coding | 8/8 | 1836/5431 | 1454/1728 | 485/575 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
SH2D4B_chr10_80532902_80651560 | 80572968 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG02074.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0101 | 1 | 322 | 0.0031 | -24 | c.495 others(41): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SH3BGRL3_chr1_26275086_26286522 | 26282320 | TCCAGGAC others(17): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0009others(2): Show | 151 | 422 | 0.3578 | -24 | c.*11 others(35): Show |
SH3BGRL3 | ENSG00000142669.15 | transcript | ENST00000270792.10 | protein_coding | 799 | chr1 | TogoVar | ||||||
SH3BGRL3_chr1_26275086_26286522 | 26282328 | AGGGACTG others(17): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG02809.hp1 HG02818.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 11 | 422 | 0.0261 | -24 | c.*12 others(35): Show |
SH3BGRL3 | ENSG00000142669.15 | transcript | ENST00000270792.10 | protein_coding | 807 | chr1 | TogoVar | ||||||
SH3BP2_chr4_2788085_2846096 | 2794407 | AAGGGCCC others(17): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00741.hp2 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0055a0001c0002t0007others(24): Show | a0001c0001t0001g0067a0001c0001t0001g0073a0001c0001t0055g0054others(33): Show | 40 | 378 | 0.1058 | -24 | c.-5+ others(39): Show |
SH3BP2 | ENSG00000087266.17 | transcript | ENST00000503393.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SH3BP2_chr4_2788085_2846096 | 2802402 | ATATGTGT others(17): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0009 | a0001c0009t0021 | a0001c0009t0021g0051 | 1 | 378 | 0.0027 | -24 | c.-5+ others(39): Show |
SH3BP2 | ENSG00000087266.17 | transcript | ENST00000503393.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SH3BP4_chr2_234947017_235060714 | 235011102 | ACTCTCCT others(17): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(196): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0001c0004others(15): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(33): Show | a0001c0002t0001g0030a0001c0002t0001g0061a0001c0002t0001g0072others(195): Show | 199 | 348 | 0.5718 | -24 | c.-13 others(45): Show |
SH3BP4 | ENSG00000130147.16 | transcript | ENST00000392011.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SH3BP4_chr2_234947017_235060714 | 235038280 | ATTATATA others(17): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0030 | a0001c0030t0018 | a0001c0030t0018g0044 | 1 | 348 | 0.0029 | -24 | c.119 others(41): Show |
SH3BP4 | ENSG00000130147.16 | transcript | ENST00000392011.7 | protein_coding | 3/5 | chr2 | TogoVar | ||||||
SH3BP5_chr3_15249353_15337586 | 15294290 | AGTGTGTG others(17): Show |
A | intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0159 | 1 | 376 | 0.0027 | -24 | c.330 others(41): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 3/8 | chr3 | TogoVar |