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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SGIP1_chr1_66529153_66756139 | 66631091 | GAAAGAAA others(2): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG01358.hp1 HG02132.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0021a0002c0002t0049 | a0002c0002t0003g0276a0002c0002t0003g0277a0002c0002t0003g0290others(4): Show | 7 | 302 | 0.0232 | -9 | c.75- others(24): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SGK1_chr6_134164256_134323112 | 134187420 | TTTCCACC others(2): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG06807.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0065a0001c0001t0006g0247a0001c0001t0006g0248 | 3 | 250 | 0.0120 | -9 | c.362 others(28): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 3/13 | chr6 | TogoVar | ||||||
SGK1_chr6_134164256_134323112 | 134235540 | TTTTTATT others(2): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01258.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0069others(27): Show | 30 | 250 | 0.1200 | -9 | c.285 others(28): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 2/13 | chr6 | TogoVar | ||||||
SGK3_chr8_66707781_66867022 | 66779592 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG03017.hp2 HG03669.hp2 HG03688.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0026a0001c0002t0002g0040a0001c0002t0002g0041others(10): Show | 13 | 142 | 0.0916 | -9 | c.-12 others(30): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | chr8 | TogoVar | ||||||
SGK3_chr8_66707781_66867022 | 66796321 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02056.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0011 | a0001c0002t0003g0013a0001c0002t0003g0018a0001c0002t0003g0019others(7): Show | 10 | 142 | 0.0704 | -9 | c.97- others(24): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SGMS2_chr4_107819932_107920047 | 107886364 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(174): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(165): Show | 177 | 270 | 0.6556 | -9 | c.-24 others(28): Show |
SGMS2 | ENSG00000164023.15 | transcript | ENST00000690982.1 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SGPP1_chr14_63679216_63733065 | 63719005 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG02273.hp2 HG02922.hp2 HG03579.hp2 |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0002t0002a0001c0008t0001 | a0001c0001t0001g0217a0001c0002t0002g0048a0001c0008t0001g0255 | 3 | 288 | 0.0104 | -9 | c.684 others(26): Show |
SGPP1 | ENSG00000126821.8 | transcript | ENST00000247225.7 | protein_coding | 1/2 | chr14 | TogoVar | ||||||
SGPP2_chr2_222419543_222567621 | 222490604 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00597.hp2 others(65): Show |
a0001a0003 | a0001c0001a0003c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0007a0001c0001t0001g0140a0001c0001t0001g0143others(65): Show | 68 | 272 | 0.2500 | -9 | c.378 others(28): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SGSM1_chr22_24801211_24932578 | 24902694 | GTAATAAA others(2): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG02630.hp2 NA19030.hp1 |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0042 | a0001c0001t0010a0003c0003t0017a0004c0042t0010 | a0001c0001t0010g0303a0003c0003t0017g0320a0004c0042t0010g0305 | 3 | 338 | 0.0089 | -9 | c.273 others(26): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SGSM2_chr17_2332501_2386054 | 2337548 | TGCGGCGG others(2): Show |
T | 5_prime_UTR_variant | MODIFIER | NA18999.hp1 NA19067.hp2 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0014a0001c0001t0010g0259 | 3 | 422 | 0.0071 | -9 | c.-12 others(18): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 1/24 | 119 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||
SGTA_chr19_2749715_2788273 | 2784758 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG01261.hp2 others(41): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0013 | a0001c0003t0003a0001c0003t0021a0001c0004t0003others(2): Show | a0001c0003t0003g0029a0001c0003t0003g0030a0001c0003t0003g0031others(41): Show | 44 | 396 | 0.1111 | -9 | c.-15 others(20): Show |
SGTA | ENSG00000104969.11 | transcript | ENST00000221566.7 | protein_coding | 1486 | chr19 | TogoVar | ||||||
SGTA_chr19_2749715_2788273 | 2786913 | GCCACCAC others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02622.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0218a0001c0001t0001g0234others(2): Show | 6 | 396 | 0.0152 | -9 | c.-37 others(20): Show |
SGTA | ENSG00000104969.11 | transcript | ENST00000221566.7 | protein_coding | 3641 | chr19 | TogoVar | ||||||
SGTB_chr5_65660928_65727109 | 65666406 | ATATAGAA others(2): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02486.hp1 HG02647.hp2 HG02895.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0035 | a0001c0001t0006g0009a0001c0001t0006g0031a0001c0001t0006g0301others(2): Show | 8 | 360 | 0.0222 | -9 | c.*38 others(20): Show |
SGTB | ENSG00000197860.10 | transcript | ENST00000381007.9 | protein_coding | 11/11 | 3831 | chr5 | TogoVar | |||||
SH2B1_chr16_28858843_28879205 | 28863893 | AGCCGCCG others(2): Show |
A | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00642.hp1 others(83): Show |
a0002 | a0002c0002a0002c0004a0002c0008 | a0002c0002t0002a0002c0002t0013a0002c0002t0014others(2): Show | a0002c0002t0002g0002a0002c0002t0002g0008a0002c0002t0002g0009others(18): Show | 86 | 380 | 0.2263 | -9 | c.-21 others(20): Show |
SH2B1 | ENSG00000178188.16 | transcript | ENST00000684370.1 | protein_coding | 1/8 | 2177 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
SH2B3_chr12_111400923_111456623 | 111427388 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG02109.hp2 HG02809.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0008 | a0001c0001t0002a0001c0001t0015a0002c0002t0004others(1): Show | a0001c0001t0002g0008a0001c0001t0002g0135a0001c0001t0002g0152others(8): Show | 14 | 326 | 0.0429 | -9 | c.732 others(26): Show |
SH2B3 | ENSG00000111252.11 | transcript | ENST00000341259.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SH2D1A_chrX_124341563_124378160 | 124350276 | ATAATATT others(2): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0028 | 1 | 318 | 0.0031 | -9 | c.137 others(26): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1/3 | chrX | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124350317 | ATAATATT others(2): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0028 | 1 | 318 | 0.0031 | -9 | c.137 others(26): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1/3 | chrX | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124350636 | TGTATATA others(2): Show |
T | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0243 | 1 | 318 | 0.0031 | -9 | c.137 others(26): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1/3 | chrX | TogoVar | ||||||
SH2D1B_chr1_162390268_162417136 | 162403510 | AAATATAT others(2): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02486.hp2 HG02523.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0010a0001c0001t0001g0204a0001c0001t0001g0224others(3): Show | 9 | 424 | 0.0212 | -9 | c.135 others(24): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
SH2D1B_chr1_162390268_162417136 | 162403512 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG00741.hp2 HG01255.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0230a0001c0001t0001g0251a0002c0003t0001g0008others(9): Show | 17 | 424 | 0.0401 | -9 | c.135 others(24): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
SH2D3A_chr19_6747160_6772435 | 6761956 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01070.hp1 others(41): Show |
a0002a0003a0005 | a0002c0003a0002c0005a0003c0004others(1): Show | a0002c0003t0002a0002c0005t0001a0002c0005t0002others(3): Show | a0002c0003t0002g0041a0002c0003t0002g0173a0002c0003t0002g0183others(21): Show | 44 | 380 | 0.1158 | -9 | c.70- others(22): Show |
SH2D3A | ENSG00000125731.13 | transcript | ENST00000245908.11 | protein_coding | 2/9 | chr19 | TogoVar | ||||||
SH2D3C_chr9_127733317_127783666 | 127757602 | AGATGATG others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00544.hp1 others(63): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(11): Show | a0001c0001t0001g0022a0001c0001t0001g0232a0001c0001t0001g0233others(57): Show | 66 | 332 | 0.1988 | -9 | c.555 others(26): Show |
SH2D3C | ENSG00000095370.20 | transcript | ENST00000314830.13 | protein_coding | 3/11 | chr9 | TogoVar | ||||||
SH2D4A_chr8_19308693_19401218 | 19340601 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | NA18939.hp1 NA18960.hp2 NA18977.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0273a0001c0001t0001g0306a0001c0001t0004g0224others(4): Show | 7 | 354 | 0.0198 | -9 | c.513 others(26): Show |
SH2D4A | ENSG00000104611.12 | transcript | ENST00000265807.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SH2D4B_chr10_80532902_80651560 | 80572973 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01433.hp1 HG01978.hp2 HG01981.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001a0001c0006t0002 | a0001c0001t0001g0263a0001c0006t0001g0096a0001c0006t0001g0223others(1): Show | 4 | 322 | 0.0124 | -9 | c.495 others(26): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 3/7 | chr10 | TogoVar | ||||||
SH3BP4_chr2_234947017_235060714 | 234972125 | TTGTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG02683.hp1 HG02717.hp2 HG02896.hp2 others(7): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(5): Show | a0001c0002t0001g0260a0001c0002t0001g0264a0001c0002t0002g0263others(7): Show | 10 | 348 | 0.0287 | -9 | c.-20 others(30): Show |
SH3BP4 | ENSG00000130147.16 | transcript | ENST00000392011.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SH3BP5_chr3_15249353_15337586 | 15299483 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG00673.hp2 others(45): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0185a0001c0001t0001g0204a0001c0001t0001g0283others(45): Show | 48 | 376 | 0.1277 | -9 | c.330 others(26): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 3/8 | chr3 | TogoVar | ||||||
SH3BP5_chr3_15249353_15337586 | 15331015 | TTTTTCTG others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(84): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0004c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0169a0001c0001t0002g0006a0001c0001t0002g0007others(84): Show | 87 | 376 | 0.2314 | -9 | c.139 others(24): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 1/8 | chr3 | TogoVar | ||||||
SH3D21_chr1_36301368_36326347 | 36318898 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(193): Show |
a0001a0003a0008others(1): Show | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(110): Show | 196 | 376 | 0.5213 | -9 | c.770 others(24): Show |
SH3D21 | ENSG00000214193.11 | transcript | ENST00000453908.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SH3GL1_chr19_4355370_4405547 | 4355947 | GGATTCAA others(2): Show |
G | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01074.hp1 HG02273.hp1 others(10): Show |
a0001a0002 | a0001c0002a0002c0011 | a0001c0002t0001a0001c0002t0013a0001c0002t0020others(1): Show | a0001c0002t0001g0064a0001c0002t0001g0090a0001c0002t0001g0098others(10): Show | 13 | 358 | 0.0363 | -9 | c.*56 others(20): Show |
SH3GL1 | ENSG00000141985.9 | transcript | ENST00000269886.7 | protein_coding | 4422 | chr19 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17596169 | CTTAAAAC others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02451.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0002t0013 | a0001c0001t0001g0159a0001c0001t0001g0160a0001c0001t0001g0161others(2): Show | 5 | 260 | 0.0192 | -9 | c.45+ others(26): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SH3GL2_chr9_17574066_17802124 | 17645151 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02630.hp2 HG02976.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0166a0001c0001t0001g0185a0001c0001t0001g0242others(4): Show | 7 | 260 | 0.0269 | -9 | c.45+ others(26): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SH3GL3_chr15_83442341_83623743 | 83464988 | TATAATAA others(2): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG01109.hp1 HG02257.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0110a0001c0001t0001g0111a0001c0001t0001g0112others(8): Show | 11 | 324 | 0.0340 | -9 | c.45+ others(26): Show |
SH3GL3 | ENSG00000140600.17 | transcript | ENST00000427482.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SH3GL3_chr15_83442341_83623743 | 83607840 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00738.hp2 others(47): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0017others(47): Show | 50 | 324 | 0.1543 | -9 | c.839 others(28): Show |
SH3GL3 | ENSG00000140600.17 | transcript | ENST00000427482.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SH3KBP1_chrX_19528977_19892600 | 19565051 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG02630.hp1 HG02897.hp1 others(2): Show |
a0001 | a0001c0002a0001c0009 | a0001c0002t0002a0001c0009t0002 | a0001c0002t0002g0187a0001c0002t0002g0188a0001c0002t0002g0189others(2): Show | 5 | 204 | 0.0245 | -9 | c.138 others(28): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | TogoVar | ||||||
SH3KBP1_chrX_19528977_19892600 | 19567518 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0179 | 1 | 204 | 0.0049 | -9 | c.138 others(28): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | TogoVar | ||||||
SH3KBP1_chrX_19528977_19892600 | 19583125 | CATTATTA others(2): Show |
C | intron_variant | MODIFIER | HG02451.hp1 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098a0001c0001t0001g0192 | 2 | 204 | 0.0098 | -9 | c.129 others(28): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | TogoVar | ||||||
SH3KBP1_chrX_19528977_19892600 | 19585204 | ATACTAAA others(2): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG03486.hp2 NA19091.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0012a0001c0003t0004others(1): Show | a0001c0001t0001g0152a0001c0002t0012g0186a0001c0003t0004g0180others(1): Show | 4 | 204 | 0.0196 | -9 | c.129 others(28): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | TogoVar | ||||||
SH3KBP1_chrX_19528977_19892600 | 19758327 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0202 | 1 | 204 | 0.0049 | -9 | c.163 others(28): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | ||||||
SH3KBP1_chrX_19528977_19892600 | 19760014 | TCTCTCTC others(2): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058 | 1 | 204 | 0.0049 | -9 | c.163 others(28): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | ||||||
SH3KBP1_chrX_19528977_19892600 | 19760040 | CCCTCTCT others(2): Show |
C | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 204 | 0.0049 | -9 | c.163 others(28): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | ||||||
SH3KBP1_chrX_19528977_19892600 | 19860280 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 204 | 0.0049 | -9 | c.5-2 others(24): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | TogoVar | ||||||
SH3KBP1_chrX_19528977_19892600 | 19887495 | TGCTGCTG others(2): Show |
T | 5_prime_UTR_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001 | 1 | 204 | 0.0049 | -9 | c.-19 others(18): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/18 | 186 | chrX | TogoVar | |||||
SH3KBP1_chrX_19528977_19892600 | 19887601 | GAAAAAAA others(2): Show |
G | upstream_gene_variant | MODIFIER | HG02922.hp2 HG03195.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0052a0001c0003t0001g0049 | 2 | 204 | 0.0098 | -9 | c.-30 others(18): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2 | chrX | TogoVar | ||||||
SH3PXD2A_chr10_103589027_103860576 | 103606177 | TATCATCA others(2): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02109.hp2 others(6): Show |
a0001a0004 | a0001c0001a0004c0011 | a0001c0001t0014a0001c0001t0044a0001c0001t0067others(5): Show | a0001c0001t0014g0101a0001c0001t0044g0240a0001c0001t0044g0244others(6): Show | 9 | 250 | 0.0360 | -9 | c.130 others(26): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 13/14 | chr10 | TogoVar | ||||||
SH3PXD2A_chr10_103589027_103860576 | 103606432 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00597.hp1 others(28): Show |
a0001a0003a0008 | a0001c0002a0001c0004a0001c0010others(3): Show | a0001c0002t0087a0001c0004t0001a0001c0004t0010others(13): Show | a0001c0002t0087g0194a0001c0004t0001g0087a0001c0004t0001g0144others(28): Show | 31 | 250 | 0.1240 | -9 | c.130 others(26): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 13/14 | chr10 | TogoVar | ||||||
SH3RF1_chr4_169089259_169275956 | 169146076 | TTATATAT others(2): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG03130.hp1 |
a0001 | a0001c0002a0001c0018 | a0001c0002t0003a0001c0018t0022 | a0001c0002t0003g0104a0001c0018t0022g0192 | 2 | 216 | 0.0093 | -9 | c.765 others(26): Show |
SH3RF1 | ENSG00000154447.15 | transcript | ENST00000284637.14 | protein_coding | 4/11 | chr4 | TogoVar | ||||||
SH3RF2_chr5_145931578_146068292 | 145971871 | AATGATGA others(2): Show |
A | intron_variant | MODIFIER | HG02896.hp1 HG03579.hp1 |
a0001a0014 | a0001c0011a0014c0017 | a0001c0011t0001a0014c0017t0001 | a0001c0011t0001g0160a0014c0017t0001g0249 | 2 | 272 | 0.0074 | -9 | c.379 others(28): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SH3TC2_chr5_148977150_149068062 | 148980642 | TTTGTTGT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG02027.hp1 HG02129.hp2 HG02135.hp1 others(5): Show |
a0003 | a0003c0006 | a0003c0006t0012a0003c0006t0211a0003c0006t0212others(2): Show | a0003c0006t0012g0006a0003c0006t0012g0292a0003c0006t0211g0288others(3): Show | 8 | 326 | 0.0245 | -9 | c.*24 others(22): Show |
SH3TC2 | ENSG00000169247.14 | transcript | ENST00000515425.6 | protein_coding | 1507 | chr5 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 459119 | AATATAAG others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp2 others(14): Show |
a0001 | a0001c0005a0001c0006a0001c0014 | a0001c0005t0001a0001c0005t0005a0001c0005t0006others(4): Show | a0001c0005t0001g0011a0001c0005t0001g0012a0001c0005t0001g0013others(14): Show | 17 | 212 | 0.0802 | -9 | c.468 others(26): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 1/12 | chr19 | TogoVar | ||||||
SHCBP1L_chr1_182894865_182958166 | 182924696 | GAAAGGAA others(2): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG02027.hp2 HG02896.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0079a0001c0001t0001g0084a0002c0002t0001g0003others(10): Show | 13 | 302 | 0.0431 | -9 | c.118 others(28): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar |