view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SGK1_chr6_134164256_134323112 | 134258811 | A | AAAAAT | intron_variant | MODIFIER | HG00140.hp1 HG01258.hp2 HG01515.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0145 a0001c0001t0003g0002 a0001c0001t0003g0003 others(3): Show |
6 | 250 | 0.0240 | 5 | c.285 others(22): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134260374 | A | ACCCCC | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00621.hp2 others(38): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0075 others(38): Show |
41 | 250 | 0.1640 | 5 | c.285 others(22): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134260773 | G | GTCTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(95): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0015 a0001c0001t0001g0044 a0001c0001t0001g0046 others(95): Show |
98 | 250 | 0.3920 | 5 | c.285 others(22): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134274787 | G | GTCTTT | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01074.hp1 others(12): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(4): Show | a0001c0001t0001g0080 a0001c0001t0001g0178 a0001c0001t0001g0185 others(12): Show |
15 | 250 | 0.0600 | 5 | c.70- others(22): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 1/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134301531 | T | TTCTTC | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01081.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0075 a0001c0001t0001g0085 a0001c0001t0001g0086 others(15): Show |
18 | 250 | 0.0720 | 5 | c.69+ others(22): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 1/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134303794 | A | AAAAAG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(84): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(84): Show |
87 | 250 | 0.3480 | 5 | c.69+ others(22): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 1/13 | chr6 | TogoVar | |||||||
SGK2_chr20_43554027_43590627 | 43589324 | A | ATTTTT | downstream_gene_variant | MODIFIER | NA18957.hp2 NA18959.hp2 NA18963.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0027 |
3 | 416 | 0.0072 | 5 | c.*43 others(16): Show |
SGK2 | ENSG00000101049.18 | transcript | ENST00000373100.7 | protein_coding | 3698 | chr20 | TogoVar | |||||||
SGK3_chr8_66707781_66867022 | 66723132 | T | TATATA | intron_variant | MODIFIER | HG01081.hp1 HG01175.hp1 HG01175.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0002 a0001c0001t0001g0071 a0001c0001t0001g0091 others(1): Show |
4 | 142 | 0.0282 | 5 | c.-12 others(26): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | chr8 | TogoVar | |||||||
SGK3_chr8_66707781_66867022 | 66734944 | C | CAAAAA | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02258.hp2 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(2): Show | a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0037 others(11): Show |
14 | 142 | 0.0986 | 5 | c.-12 others(26): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SGK3_chr8_66707781_66867022 | 66758004 | C | CACACT | intron_variant | MODIFIER | HG02486.hp2 HG03139.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 a0001c0002t0002g0004 |
2 | 142 | 0.0141 | 5 | c.-12 others(26): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SGK3_chr8_66707781_66867022 | 66759077 | C | CTTTCT | intron_variant | MODIFIER | HG01981.hp1 NA18906.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0032 a0001c0002t0002g0056 |
2 | 142 | 0.0141 | 5 | c.-12 others(26): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SGK3_chr8_66707781_66867022 | 66826636 | C | CTTTAT | intron_variant | MODIFIER | HG02683.hp1 HG03130.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0007 | a0001c0001t0001g0126 a0001c0002t0007g0023 |
2 | 142 | 0.0141 | 5 | c.418 others(22): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SGK3_chr8_66707781_66867022 | 66834464 | G | GGTTTT | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02145.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0081 others(23): Show |
26 | 142 | 0.1831 | 5 | c.526 others(22): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SGMS1_chr10_50300600_50628956 | 50330293 | A | AAAAAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(92): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(8): Show | a0001c0001t0001g0115 a0001c0002t0001g0008 a0001c0002t0001g0012 others(92): Show |
95 | 312 | 0.3045 | 5 | c.624 others(22): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 7/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50417413 | A | AAAAAT | intron_variant | MODIFIER | HG02735.hp2 HG02976.hp2 HG03669.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 a0001c0002t0001g0114 a0001c0002t0001g0294 |
3 | 312 | 0.0096 | 5 | c.-23 others(26): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 6/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50476097 | C | CAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG01106.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0148 a0001c0002t0001g0306 a0001c0002t0002g0078 others(7): Show |
10 | 312 | 0.0321 | 5 | c.-49 others(24): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 3/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50477950 | T | TCTCCA | intron_variant | MODIFIER | HG02559.hp2 HG02970.hp1 HG02976.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0105 others(14): Show |
17 | 312 | 0.0545 | 5 | c.-49 others(26): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 3/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50609521 | G | GTTTTT | intron_variant | MODIFIER | HG02080.hp2 HG02257.hp2 HG02572.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0001g0111 a0001c0001t0001g0135 a0001c0001t0001g0149 others(14): Show |
17 | 312 | 0.0545 | 5 | c.-68 others(26): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
SGMS2_chr4_107819932_107920047 | 107827984 | T | TCAAAA | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG02615.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0197 a0001c0001t0006g0002 |
4 | 270 | 0.0148 | 5 | c.-32 others(24): Show |
SGMS2 | ENSG00000164023.15 | transcript | ENST00000690982.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SGO2_chr2_200521207_200589096 | 200529504 | C | CGTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(87): Show |
a0001a0018 | a0001c0002a0001c0012a0018c0017 | a0001c0002t0001a0001c0012t0001a0018c0017t0001 | a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0011 others(69): Show |
90 | 384 | 0.2344 | 5 | c.-3+ others(20): Show |
SGO2 | ENSG00000163535.18 | transcript | ENST00000357799.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SGPL1_chr10_70810948_70886184 | 70826224 | A | AACAAT | intron_variant | MODIFIER | HG00738.hp1 HG01168.hp1 HG01175.hp1 others(4): Show |
a0001 | a0001c0006 | a0001c0006t0019a0001c0006t0029a0001c0006t0053 | a0001c0006t0019g0053 a0001c0006t0019g0054 a0001c0006t0019g0055 others(4): Show |
7 | 402 | 0.0174 | 5 | c.27+ others(20): Show |
SGPL1 | ENSG00000166224.18 | transcript | ENST00000373202.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SGPP1_chr14_63679216_63733065 | 63722579 | T | TTAATA | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00642.hp1 others(47): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0002c0005others(2): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(12): Show | a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 others(45): Show |
50 | 288 | 0.1736 | 5 | c.684 others(22): Show |
SGPP1 | ENSG00000126821.8 | transcript | ENST00000247225.7 | protein_coding | 1/2 | chr14 | TogoVar | |||||||
SGPP1_chr14_63679216_63733065 | 63728103 | G | GCGCCC | upstream_gene_variant | MODIFIER | HG02258.hp2 HG02559.hp2 HG02615.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0048 a0001c0002t0004g0002 a0001c0002t0004g0051 others(6): Show |
10 | 288 | 0.0347 | 5 | c.-16 others(14): Show |
SGPP1 | ENSG00000126821.8 | transcript | ENST00000247225.7 | protein_coding | 39 | chr14 | TogoVar | |||||||
SGPP2_chr2_222419543_222567621 | 222422285 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01070.hp1 HG01071.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0002g0017 others(7): Show |
10 | 272 | 0.0368 | 5 | c.-23 others(16): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 2257 | chr2 | TogoVar | |||||||
SGPP2_chr2_222419543_222567621 | 222467950 | G | GAAAAA | intron_variant | MODIFIER | HG01928.hp1 HG03927.hp1 NA18954.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0121 a0001c0001t0001g0137 a0001c0001t0002g0053 others(3): Show |
6 | 272 | 0.0221 | 5 | c.220 others(22): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SGPP2_chr2_222419543_222567621 | 222559461 | T | TTTTTG | 3_prime_UTR_variant | MODIFIER | HG00735.hp1 HG01361.hp2 HG01975.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0039a0001c0001t0097others(2): Show | a0001c0001t0020g0110 a0001c0001t0020g0191 a0001c0001t0020g0201 others(6): Show |
9 | 272 | 0.0331 | 5 | c.*57 others(14): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 5/5 | 582 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SGPP2_chr2_222419543_222567621 | 222561837 | G | GAAAAA | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(235): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(90): Show | a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0027 others(235): Show |
238 | 272 | 0.8750 | 5 | c.*29 others(16): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 5/5 | 2945 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SGPP2_chr2_222419543_222567621 | 222565907 | A | ATATTT | downstream_gene_variant | MODIFIER | HG02015.hp2 HG02258.hp2 HG02486.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0012a0001c0001t0058a0001c0002t0018others(1): Show | a0001c0001t0012g0023 a0001c0001t0058g0209 a0001c0002t0018g0003 others(2): Show |
5 | 272 | 0.0184 | 5 | c.*70 others(16): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 3287 | chr2 | TogoVar | |||||||
SGSH_chr17_80204276_80225333 | 80213193 | C | CAAAAA | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02280.hp1 others(8): Show |
a0001 | a0001c0001a0001c0017 | a0001c0001t0003a0001c0001t0004a0001c0017t0003 | a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 others(5): Show |
11 | 420 | 0.0262 | 5 | c.745 others(20): Show |
SGSH | ENSG00000181523.13 | transcript | ENST00000326317.11 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
SGSM1_chr22_24801211_24932578 | 24816417 | C | CTTTTT | intron_variant | MODIFIER | HG02922.hp2 NA18522.hp2 NA18953.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0019a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0234 a0001c0001t0002g0235 a0001c0001t0002g0251 others(4): Show |
7 | 338 | 0.0207 | 5 | c.63+ others(20): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24845926 | C | CTTTCT | intron_variant | MODIFIER | HG02293.hp2 HG02895.hp1 HG03831.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0036 a0001c0001t0002g0257 a0001c0001t0003g0258 others(3): Show |
6 | 338 | 0.0178 | 5 | c.139 others(20): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24881566 | A | AAAAAC | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00642.hp2 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0031a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0054 a0001c0001t0001g0079 a0001c0001t0001g0080 others(34): Show |
37 | 338 | 0.1095 | 5 | c.149 others(24): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24886397 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(320): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0004a0001c0005others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(95): Show | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0019 others(320): Show |
323 | 338 | 0.9556 | 5 | c.164 others(22): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 15/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24907933 | A | AAAAAG | intron_variant | MODIFIER | HG01070.hp1 HG01167.hp1 HG01168.hp1 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0039 a0001c0001t0001g0072 a0001c0001t0001g0194 others(26): Show |
29 | 338 | 0.0858 | 5 | c.281 others(24): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24930393 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00609.hp1 HG01358.hp1 HG04115.hp1 others(3): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0025 | a0001c0001t0002a0001c0001t0005a0001c0001t0034others(2): Show | a0001c0001t0002g0247 a0001c0001t0005g0190 a0001c0001t0034g0328 others(3): Show |
6 | 338 | 0.0178 | 5 | c.*61 others(16): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 2816 | chr22 | TogoVar | |||||||
SGSM3_chr22_40365594_40415289 | 40376712 | G | GGTGGA | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00558.hp1 others(96): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0002c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0065 others(88): Show |
99 | 292 | 0.3390 | 5 | c.-11 others(24): Show |
SGSM3 | ENSG00000100359.21 | transcript | ENST00000248929.14 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGTA_chr19_2749715_2788273 | 2778780 | T | TAACAA | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02559.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0003t0003a0001c0006t0004 | a0001c0001t0001g0320 a0001c0003t0003g0162 a0001c0006t0004g0182 others(5): Show |
8 | 396 | 0.0202 | 5 | c.-24 others(22): Show |
SGTA | ENSG00000104969.11 | transcript | ENST00000221566.7 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
SH2D1A_chrX_124341563_124378160 | 124341985 | A | AAAAAC | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01081.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0090 others(26): Show |
32 | 318 | 0.1006 | 5 | c.-46 others(16): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 4577 | chrX | TogoVar | |||||||
SH2D1A_chrX_124341563_124378160 | 124350922 | A | AGATAT | intron_variant | MODIFIER | HG02602.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 a0001c0001t0001g0145 |
2 | 318 | 0.0063 | 5 | c.137 others(22): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124350923 | G | GATATA | intron_variant | MODIFIER | HG03831.hp2 HG04204.hp1 NA18966.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 a0001c0001t0001g0216 a0001c0001t0001g0228 |
3 | 318 | 0.0094 | 5 | c.137 others(22): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124363910 | A | AAAAAG | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 318 | 0.0031 | 5 | c.138 others(22): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124365822 | G | GAATGA | frameshift_variant others(2): Show |
HIGH | HG01517.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0094 | 1 | 318 | 0.0031 | 5 | c.200 others(12): Show |
p.Thr others(4): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 2/4 | 281/2236 | 201/387 | 67/128 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
SH2D1B_chr1_162390268_162417136 | 162393801 | T | TTAAAA | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(398): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 others(261): Show |
401 | 424 | 0.9458 | 5 | c.*34 others(16): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 1466 | chr1 | TogoVar | |||||||
SH2D3A_chr19_6747160_6772435 | 6758133 | G | GTATTT | intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01070.hp1 others(36): Show |
a0002a0003a0005 | a0002c0003a0002c0005a0003c0004others(1): Show | a0002c0003t0002a0002c0005t0001a0002c0005t0002others(3): Show | a0002c0003t0002g0173 a0002c0005t0001g0149 a0002c0005t0001g0150 others(17): Show |
39 | 380 | 0.1026 | 5 | c.496 others(22): Show |
SH2D3A | ENSG00000125731.13 | transcript | ENST00000245908.11 | protein_coding | 4/9 | chr19 | TogoVar | |||||||
SH2D3A_chr19_6747160_6772435 | 6764872 | A | ATTTTT | intron_variant | MODIFIER | HG01070.hp1 HG01168.hp1 HG01243.hp2 others(34): Show |
a0002a0003a0005 | a0002c0003a0002c0005a0003c0004others(1): Show | a0002c0003t0002a0002c0005t0001a0002c0005t0002others(2): Show | a0002c0003t0002g0041 a0002c0003t0002g0173 a0002c0003t0002g0183 others(15): Show |
37 | 380 | 0.0974 | 5 | c.-68 others(22): Show |
SH2D3A | ENSG00000125731.13 | transcript | ENST00000245908.11 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
SH2D3A_chr19_6747160_6772435 | 6768708 | C | CTTTAT | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02622.hp1 HG02818.hp1 others(3): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0005 | a0001c0002t0002a0002c0003t0002a0002c0005t0001 | a0001c0002t0002g0024 a0001c0002t0002g0147 a0001c0002t0002g0148 others(2): Show |
6 | 380 | 0.0158 | 5 | c.-13 others(16): Show |
SH2D3A | ENSG00000125731.13 | transcript | ENST00000245908.11 | protein_coding | 1274 | chr19 | TogoVar | |||||||
SH2D3A_chr19_6747160_6772435 | 6771754 | A | AAGAAG | upstream_gene_variant | MODIFIER | HG01891.hp2 HG01934.hp1 HG02055.hp2 others(7): Show |
a0002a0004 | a0002c0003a0004c0006 | a0002c0003t0002a0004c0006t0001 | a0002c0003t0002g0017 a0004c0006t0001g0025 a0004c0006t0001g0152 others(5): Show |
10 | 380 | 0.0263 | 5 | c.-44 others(16): Show |
SH2D3A | ENSG00000125731.13 | transcript | ENST00000245908.11 | protein_coding | 4320 | chr19 | TogoVar | |||||||
SH2D3C_chr9_127733317_127783666 | 127754951 | G | GGCCCA | intron_variant | MODIFIER | HG01978.hp1 HG03654.hp2 NA19030.hp2 |
a0003a0007 | a0003c0004a0007c0028 | a0003c0004t0003a0007c0028t0001 | a0003c0004t0003g0054 a0003c0004t0003g0058 a0007c0028t0001g0234 |
3 | 332 | 0.0090 | 5 | c.556 others(22): Show |
SH2D3C | ENSG00000095370.20 | transcript | ENST00000314830.13 | protein_coding | 3/11 | chr9 | TogoVar | |||||||
SH2D4A_chr8_19308693_19401218 | 19353674 | G | GTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00597.hp2 others(23): Show |
a0001a0002a0005others(3): Show | a0001c0007a0002c0004a0002c0011others(8): Show | a0001c0007t0001a0002c0004t0002a0002c0004t0007others(11): Show | a0001c0007t0001g0203 a0002c0004t0002g0161 a0002c0004t0002g0260 others(23): Show |
26 | 354 | 0.0735 | 5 | c.514 others(22): Show |
SH2D4A | ENSG00000104611.12 | transcript | ENST00000265807.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SH2D4A_chr8_19308693_19401218 | 19361155 | T | TTTTTG | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00558.hp1 others(69): Show |
a0002a0005a0006others(5): Show | a0002c0004a0002c0005a0002c0011others(17): Show | a0002c0004t0002a0002c0004t0003a0002c0004t0006others(30): Show | a0002c0004t0002g0010 a0002c0004t0002g0086 a0002c0004t0002g0087 others(67): Show |
72 | 354 | 0.2034 | 5 | c.595 others(18): Show |
SH2D4A | ENSG00000104611.12 | transcript | ENST00000265807.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |