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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SETBP1_chr18_44675888_45073510 | 44963970 | AAGAGATC others(19): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00741.hp1 others(39): Show |
a0001a0004a0005others(4): Show | a0001c0001a0001c0016a0004c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(39): Show | 42 | 140 | 0.3000 | -26 | c.400 others(47): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SETD2_chr3_47011436_47169113 | 47049304 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(144): Show |
a0001a0002a0004others(10): Show | a0001c0005a0002c0001a0002c0016others(14): Show | a0001c0005t0001a0002c0001t0001a0002c0001t0002others(17): Show | a0001c0005t0001g0115a0001c0005t0001g0123a0002c0001t0001g0144others(144): Show | 147 | 308 | 0.4773 | -26 | c.696 others(45): Show |
SETD2 | ENSG00000181555.22 | transcript | ENST00000409792.4 | protein_coding | 15/20 | chr3 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26304362 | AAAGAAAG others(19): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG00733.hp2 HG01517.hp2 others(7): Show |
a0001 | a0001c0003a0001c0006a0001c0007others(2): Show | a0001c0003t0001a0001c0003t0007a0001c0006t0001others(6): Show | a0001c0003t0001g0103a0001c0003t0007g0186a0001c0006t0001g0211others(7): Show | 10 | 240 | 0.0417 | -26 | c.134 others(45): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SEZ6L_chr22_26164462_26388596 | 26313578 | ACACACAC others(19): Show |
A | intron_variant | MODIFIER | HG02083.hp2 NA18950.hp2 NA18973.hp1 others(3): Show |
a0002 | a0002c0005 | a0002c0005t0003a0002c0005t0005a0002c0005t0006others(1): Show | a0002c0005t0003g0058a0002c0005t0003g0138a0002c0005t0005g0205others(3): Show | 6 | 240 | 0.0250 | -26 | c.187 others(43): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SFMBT2_chr10_7153624_7416034 | 7392983 | TTATATAT others(19): Show |
T | intron_variant | MODIFIER | HG03486.hp1 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0022 | a0001c0001t0004g0028a0001c0001t0022g0128 | 2 | 144 | 0.0139 | -26 | c.-51 others(45): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 1/20 | chr10 | TogoVar | ||||||
SFN_chr1_26858149_26869456 | 26868248 | TTCTCTCT others(19): Show |
T | downstream_gene_variant | MODIFIER | HG02723.hp1 HG02976.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0000a0001c0001t0002g0000 | 3 | 332 | 0.0090 | -26 | c.*42 others(37): Show |
SFN | ENSG00000175793.12 | transcript | ENST00000339276.6 | protein_coding | 3793 | chr1 | TogoVar | ||||||
SFRP5_chr10_97761751_97776999 | 97763907 | CAAAAAAA others(19): Show |
C | downstream_gene_variant | MODIFIER | HG02165.hp2 NA18964.hp2 NA19075.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0026 | 3 | 380 | 0.0079 | -26 | c.*35 others(37): Show |
SFRP5 | ENSG00000120057.5 | transcript | ENST00000266066.4 | protein_coding | 2843 | chr10 | TogoVar | ||||||
SFXN1_chr5_175473560_175534742 | 175524119 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0122 | 1 | 372 | 0.0027 | -26 | c.872 others(43): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SFXN3_chr10_101026234_101046241 | 101044717 | CATATATA others(19): Show |
C | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01243.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0003g0001 | 3 | 444 | 0.0068 | -26 | c.*51 others(37): Show |
SFXN3 | ENSG00000107819.15 | transcript | ENST00000393459.6 | protein_coding | 3477 | chr10 | TogoVar | ||||||
SGCB_chr4_52015706_52043299 | 52031392 | CTGTGTGT others(19): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG02132.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020a0001c0001t0002g0058a0001c0001t0002g0059others(2): Show | 6 | 368 | 0.0163 | -26 | c.244 others(43): Show |
SGCB | ENSG00000163069.13 | transcript | ENST00000381431.10 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
SGCB_chr4_52015706_52043299 | 52034331 | CAAAAAAA others(19): Show |
C | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0229 | 1 | 368 | 0.0027 | -26 | c.34- others(39): Show |
SGCB | ENSG00000163069.13 | transcript | ENST00000381431.10 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156444114 | CTCCCCTT others(19): Show |
C | intron_variant | MODIFIER | HG02155.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0002 | a0001c0002t0011a0001c0002t0015 | a0001c0002t0011g0090a0001c0002t0015g0078 | 2 | 150 | 0.0133 | -26 | c.193 others(45): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SGCD_chr5_156322164_156772788 | 156524094 | CTATATAT others(19): Show |
C | intron_variant | MODIFIER | HG03490.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0057 | a0001c0001t0003g0018a0001c0002t0057g0110 | 2 | 150 | 0.0133 | -26 | c.294 others(45): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SGCE_chr7_94579980_94661133 | 94604806 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG03139.hp2 NA19005.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215a0001c0001t0001g0268a0001c0001t0001g0367 | 3 | 390 | 0.0077 | -26 | c.663 others(43): Show |
SGCE | ENSG00000127990.19 | transcript | ENST00000648936.2 | protein_coding | 5/10 | chr7 | TogoVar | ||||||
SGCG_chr13_23175979_23330162 | 23202779 | TAAAAATA others(19): Show |
T | intron_variant | MODIFIER | NA18939.hp1 NA18987.hp1 NA18987.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0002a0001c0004t0004 | a0001c0002t0001g0175a0001c0002t0002g0173a0001c0004t0004g0311 | 3 | 354 | 0.0085 | -26 | c.1-9 others(37): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SGCZ_chr8_14079845_15243431 | 14325743 | CACACATA others(19): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0026 | 1 | 102 | 0.0098 | -26 | c.235 others(43): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 2/7 | chr8 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 14353073 | GCATGAGT others(19): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp1 HG01081.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0035a0001c0001t0044others(5): Show | a0001c0001t0032g0018a0001c0001t0035g0014a0001c0001t0044g0033others(5): Show | 8 | 102 | 0.0784 | -26 | c.235 others(45): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 2/7 | chr8 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 14551545 | ATATATAA others(19): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02630.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0053a0001c0001t0065 | a0001c0001t0012g0004a0001c0001t0053g0056a0001c0001t0065g0047 | 3 | 102 | 0.0294 | -26 | c.234 others(43): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 2/7 | chr8 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 15097866 | GTATATAT others(19): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0018a0001c0001t0033others(5): Show | a0001c0001t0013g0026a0001c0001t0018g0037a0001c0001t0033g0003others(5): Show | 8 | 102 | 0.0784 | -26 | c.39+ others(45): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 15097890 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0008 | 1 | 102 | 0.0098 | -26 | c.39+ others(45): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 15232680 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG01346.hp1 HG01993.hp1 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0034 | a0001c0001t0024g0031a0001c0001t0034g0030 | 2 | 102 | 0.0196 | -26 | c.39+ others(41): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66589163 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02451.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0022 | a0001c0001t0006g0251a0001c0001t0008g0157a0001c0001t0008g0158others(5): Show | 8 | 302 | 0.0265 | -26 | c.11- others(43): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SGIP1_chr1_66529153_66756139 | 66608987 | TGGTCACT others(19): Show |
T | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 302 | 0.0033 | -26 | c.11- others(43): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SGIP1_chr1_66529153_66756139 | 66659940 | AAAAGAAA others(19): Show |
A | intron_variant | MODIFIER | HG02976.hp2 HG03195.hp2 |
a0001a0006 | a0001c0001a0006c0016 | a0001c0001t0062a0006c0016t0023 | a0001c0001t0062g0257a0006c0016t0023g0097 | 2 | 302 | 0.0066 | -26 | c.460 others(41): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SGIP1_chr1_66529153_66756139 | 66660136 | GAAAGAAG others(19): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG03492.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0266a0002c0002t0003g0287 | 2 | 302 | 0.0066 | -26 | c.460 others(41): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 7/24 | chr1 | TogoVar | ||||||
SGK3_chr8_66707781_66867022 | 66839498 | GATATATA others(19): Show |
G | intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 142 | 0.0070 | -26 | c.742 others(41): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SGMS1_chr10_50300600_50628956 | 50365987 | TGGTGTAA others(19): Show |
T | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0113 | 1 | 312 | 0.0032 | -26 | c.-23 others(47): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 6/10 | chr10 | TogoVar | ||||||
SGMS1_chr10_50300600_50628956 | 50400396 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02647.hp2 HG02965.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0004 | a0001c0001t0001g0120a0001c0001t0001g0159a0001c0001t0001g0160others(3): Show | 6 | 312 | 0.0192 | -26 | c.-23 others(47): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 6/10 | chr10 | TogoVar | ||||||
SGMS1_chr10_50300600_50628956 | 50429716 | CACACACA others(19): Show |
C | intron_variant | MODIFIER | HG02735.hp1 NA18966.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0096a0001c0001t0001g0143a0001c0001t0003g0204 | 3 | 312 | 0.0096 | -26 | c.-23 others(45): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 6/10 | chr10 | TogoVar | ||||||
SGPP2_chr2_222419543_222567621 | 222467950 | GAAAAAAA others(19): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02572.hp1 HG02717.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0097a0001c0001t0098a0001c0002t0019others(4): Show | a0001c0001t0097g0157a0001c0001t0098g0133a0001c0002t0019g0162others(4): Show | 7 | 272 | 0.0257 | -26 | c.220 others(43): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SH2D1A_chrX_124341563_124378160 | 124350254 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 318 | 0.0031 | -26 | c.137 others(43): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SH2D1A_chrX_124341563_124378160 | 124350675 | TATAATAT others(19): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0012 | a0001c0001t0001g0030a0001c0001t0001g0133a0001c0001t0002g0132others(3): Show | 6 | 318 | 0.0189 | -26 | c.137 others(43): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SH2D1A_chrX_124341563_124378160 | 124350959 | ATATATTG others(19): Show |
A | intron_variant | MODIFIER | HG02602.hp1 HG03225.hp1 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0144a0001c0001t0001g0145a0001c0001t0002g0129 | 3 | 318 | 0.0094 | -26 | c.137 others(43): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SH2D4B_chr10_80532902_80651560 | 80572945 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0025 | 1 | 322 | 0.0031 | -26 | c.495 others(43): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SH2D4B_chr10_80532902_80651560 | 80572962 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0007 | a0007c0020 | a0007c0020t0001 | a0007c0020t0001g0026 | 1 | 322 | 0.0031 | -26 | c.495 others(43): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SH2D4B_chr10_80532902_80651560 | 80651195 | ATATTATA others(19): Show |
A | downstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 322 | 0.0031 | -26 | c.*71 others(37): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 4636 | chr10 | TogoVar | ||||||
SH3BGRL2_chr6_79626329_79708655 | 79641150 | TTGTGTGT others(19): Show |
T | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0116 | 1 | 348 | 0.0029 | -26 | c.45+ others(41): Show |
SH3BGRL2 | ENSG00000198478.8 | transcript | ENST00000369838.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SH3BP2_chr4_2788085_2846096 | 2826271 | GTGTGTGT others(19): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(131): Show |
a0001a0003a0004 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0030others(120): Show | 134 | 378 | 0.3545 | -26 | c.429 others(41): Show |
SH3BP2 | ENSG00000087266.17 | transcript | ENST00000503393.8 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SH3BP4_chr2_234947017_235060714 | 234979804 | GCAGATGA others(19): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(253): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0003a0001c0004others(21): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(47): Show | a0001c0002t0001g0004a0001c0002t0001g0005a0001c0002t0001g0015others(251): Show | 256 | 348 | 0.7356 | -26 | c.-20 others(47): Show |
SH3BP4 | ENSG00000130147.16 | transcript | ENST00000392011.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SH3KBP1_chrX_19528977_19892600 | 19567840 | GAGAGAAT others(19): Show |
G | intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 204 | 0.0049 | -26 | c.138 others(45): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | TogoVar | ||||||
SH3KBP1_chrX_19528977_19892600 | 19703696 | CTGTGTGT others(19): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01106.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0050a0001c0001t0001g0052a0001c0001t0001g0053others(4): Show | 7 | 204 | 0.0343 | -26 | c.390 others(43): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | TogoVar | ||||||
SH3KBP1_chrX_19528977_19892600 | 19760023 | CCTCTCTC others(19): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG01192.hp1 others(14): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0001c0001t0004a0004c0008t0001 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(14): Show | 17 | 204 | 0.0833 | -26 | c.163 others(45): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | ||||||
SH3PXD2A_chr10_103589027_103860576 | 103769134 | CTGTGTGT others(19): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0091 | a0001c0001t0091g0232 | 1 | 250 | 0.0040 | -26 | c.154 others(43): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 2/14 | chr10 | TogoVar | ||||||
SH3PXD2B_chr5_172328499_172459525 | 172439250 | AGAAAAAA others(19): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG00621.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0054a0001c0001t0001g0125a0001c0001t0001g0126others(9): Show | 12 | 280 | 0.0429 | -26 | c.75+ others(43): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 1/12 | chr5 | TogoVar | ||||||
SH3RF1_chr4_169089259_169275956 | 169178281 | TAAATAAG others(19): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG02258.hp2 HG02572.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0030a0001c0002t0003others(2): Show | a0001c0001t0005g0185a0001c0001t0030g0214a0001c0002t0003g0008others(5): Show | 8 | 216 | 0.0370 | -26 | c.394 others(45): Show |
SH3RF1 | ENSG00000154447.15 | transcript | ENST00000284637.14 | protein_coding | 2/11 | chr4 | TogoVar | ||||||
SH3RF2_chr5_145931578_146068292 | 146064654 | GAGAGAGA others(19): Show |
G | downstream_gene_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0102 | 1 | 272 | 0.0037 | -26 | c.*19 others(37): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 1363 | chr5 | TogoVar | ||||||
SH3RF2_chr5_145931578_146068292 | 146064672 | AAGAAAGA others(19): Show |
A | downstream_gene_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0186 | 1 | 272 | 0.0037 | -26 | c.*19 others(37): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 1381 | chr5 | TogoVar | ||||||
SH3RF2_chr5_145931578_146068292 | 146064676 | AAGAAAGA others(19): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00639.hp2 others(36): Show |
a0001a0016a0017 | a0001c0001a0001c0014a0001c0016others(2): Show | a0001c0001t0002a0001c0014t0002a0001c0016t0002others(2): Show | a0001c0001t0002g0014a0001c0001t0002g0017a0001c0001t0002g0019others(36): Show | 39 | 272 | 0.1434 | -26 | c.*19 others(37): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 1385 | chr5 | TogoVar | ||||||
SH3TC1_chr4_8194290_8246103 | 8211379 | CTCCTGGT others(19): Show |
C | intron_variant | MODIFIER | HG01123.hp1 NA20805.hp1 NA20905.hp2 |
a0002a0010 | a0002c0005a0002c0006a0010c0018 | a0002c0005t0002a0002c0006t0001a0010c0018t0001 | a0002c0005t0002g0182a0002c0006t0001g0196a0010c0018t0001g0181 | 3 | 374 | 0.0080 | -26 | c.248 others(43): Show |
SH3TC1 | ENSG00000125089.18 | transcript | ENST00000245105.8 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 427573 | ACAGGGAA others(19): Show |
A | intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0120 | 1 | 212 | 0.0047 | -26 | c.117 others(45): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 9/12 | chr19 | TogoVar |