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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SH2D4B_chr10_80532902_80651560 | 80549202 | ATTGTGTG | A | intron_variant | MODIFIER | HG00738.hp2 HG01257.hp1 HG01433.hp2 others(8): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0006t0001others(4): Show | a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0207 others(8): Show |
11 | 208 | 0.0529 | -7 | c.184 others(26): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SH2D4B_chr10_80532902_80651560 | 80572973 | TATATATA | T | intron_variant | MODIFIER | HG02145.hp2 HG03139.hp1 HG03540.hp1 others(1): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0008others(1): Show | a0001c0001t0003a0002c0002t0001a0006c0008t0005others(1): Show | a0001c0001t0003g0287 a0002c0002t0001g0285 a0006c0008t0005g0286 others(1): Show |
4 | 314 | 0.0127 | -7 | c.495 others(24): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 3/7 | chr10 | TogoVar | |||||||
SH2D4B_chr10_80532902_80651560 | 80572977 | TATATATA | T | intron_variant | MODIFIER | HG01361.hp2 HG03195.hp1 HG03927.hp2 |
a0001a0002a0005 | a0001c0006a0002c0002a0005c0005 | a0001c0006t0001a0002c0002t0001a0005c0005t0009 | a0001c0006t0001g0129 a0002c0002t0001g0130 a0005c0005t0009g0198 |
3 | 318 | 0.0094 | -7 | c.495 others(24): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 3/7 | chr10 | TogoVar | |||||||
SH2D4B_chr10_80532902_80651560 | 80599293 | AAGGGCTT | A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(49): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0014a0002c0002others(2): Show | a0001c0001t0001a0001c0014t0001a0002c0002t0001others(6): Show | a0001c0001t0001g0273 a0001c0001t0001g0276 a0001c0014t0001g0271 others(49): Show |
52 | 320 | 0.1625 | -7 | c.644 others(24): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 4/7 | chr10 | TogoVar | |||||||
SH3BP2_chr4_2788085_2846096 | 2830367 | TTTTTTTC | T | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02071.hp1 others(12): Show |
a0001 | a0001c0004a0001c0015 | a0001c0004t0005a0001c0004t0035a0001c0015t0005 | a0001c0004t0005g0008 a0001c0004t0005g0023 a0001c0004t0005g0088 others(8): Show |
15 | 376 | 0.0399 | -7 | c.124 others(24): Show |
SH3BP2 | ENSG00000087266.17 | transcript | ENST00000503393.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SH3BP4_chr2_234947017_235060714 | 235004650 | TTGTTTTC | T | intron_variant | MODIFIER | HG00733.hp1 HG00733.hp2 HG00735.hp1 others(48): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0001c0004others(9): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(20): Show | a0001c0002t0001g0030 a0001c0002t0001g0037 a0001c0002t0001g0102 others(47): Show |
51 | 346 | 0.1474 | -7 | c.-13 others(26): Show |
SH3BP4 | ENSG00000130147.16 | transcript | ENST00000392011.7 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
SH3BP4_chr2_234947017_235060714 | 235029587 | GGTAGCTA | G | intron_variant | MODIFIER | HG00733.hp2 HG01109.hp2 HG01123.hp2 others(37): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0001c0004others(10): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(17): Show | a0001c0002t0001g0005 a0001c0002t0001g0015 a0001c0002t0001g0037 others(37): Show |
40 | 346 | 0.1156 | -7 | c.-13 others(26): Show |
SH3BP4 | ENSG00000130147.16 | transcript | ENST00000392011.7 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
SH3BP4_chr2_234947017_235060714 | 235038266 | TATATATA | T | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp1 HG02486.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0230 a0001c0002t0004g0087 a0001c0002t0004g0293 others(1): Show |
4 | 339 | 0.0118 | -7 | c.119 others(24): Show |
SH3BP4 | ENSG00000130147.16 | transcript | ENST00000392011.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3BP4_chr2_234947017_235060714 | 235038375 | ACATATAT | A | intron_variant | MODIFIER | HG02559.hp2 HG02809.hp1 HG02886.hp1 others(9): Show |
a0002 | a0002c0001a0002c0016a0002c0019 | a0002c0001t0001a0002c0001t0002a0002c0001t0003others(3): Show | a0002c0001t0001g0042 a0002c0001t0001g0093 a0002c0001t0001g0259 others(9): Show |
12 | 331 | 0.0363 | -7 | c.119 others(24): Show |
SH3BP4 | ENSG00000130147.16 | transcript | ENST00000392011.7 | protein_coding | 3/5 | chr2 | TogoVar | |||||||
SH3BP5L_chr1_248805446_248830915 | 248829712 | ACCTCTCC | A | upstream_gene_variant | MODIFIER | HG01074.hp2 HG01256.hp1 HG01346.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0158 a0001c0001t0001g0160 others(7): Show |
14 | 363 | 0.0386 | -7 | c.-43 others(18): Show |
SH3BP5L | ENSG00000175137.11 | transcript | ENST00000366472.6 | protein_coding | 3798 | chr1 | TogoVar | |||||||
SH3BP5_chr3_15249353_15337586 | 15299483 | ATTTTTTT | A | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp2 HG01123.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0002t0001a0001c0002t0003others(1): Show | a0001c0001t0003g0116 a0001c0002t0001g0194 a0001c0002t0001g0217 others(5): Show |
8 | 91 | 0.0879 | -7 | c.330 others(24): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 3/8 | chr3 | TogoVar | |||||||
SH3BP5_chr3_15249353_15337586 | 15311672 | ATTTTTTG | A | intron_variant | MODIFIER | HG01168.hp1 HG02257.hp2 HG02486.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0001a0001c0002t0023 | a0001c0001t0006g0187 a0001c0002t0001g0255 a0001c0002t0001g0266 others(3): Show |
6 | 374 | 0.0160 | -7 | c.202 others(24): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
SH3BP5_chr3_15249353_15337586 | 15318921 | ACAAGTTC | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(163): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0195 others(162): Show |
166 | 374 | 0.4439 | -7 | c.201 others(26): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151310210 | CAAAAAAA | C | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02258.hp2 others(23): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0003a0004c0014others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0121 a0001c0001t0001g0142 a0001c0001t0001g0153 others(23): Show |
26 | 161 | 0.1615 | -7 | c.112 others(26): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 1/19 | chr4 | TogoVar | |||||||
SH3D21_chr1_36301368_36326347 | 36303112 | ATTTTTTT | A | upstream_gene_variant | MODIFIER | HG02572.hp2 HG02615.hp2 HG02647.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0079 a0001c0001t0001g0080 others(1): Show |
6 | 302 | 0.0199 | -7 | c.-33 others(18): Show |
SH3D21 | ENSG00000214193.11 | transcript | ENST00000453908.8 | protein_coding | 3255 | chr1 | TogoVar | |||||||
SH3GL2_chr9_17574066_17802124 | 17626736 | GTGGACAT | G | intron_variant | MODIFIER | NA18612.hp2 NA18948.hp2 NA18971.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0054 a0001c0001t0005g0047 a0001c0001t0005g0048 others(1): Show |
4 | 258 | 0.0155 | -7 | c.45+ others(24): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17671214 | ATTTAATC | A | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG02258.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0223 others(5): Show |
8 | 258 | 0.0310 | -7 | c.46- others(24): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL3_chr15_83442341_83623743 | 83541312 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG01123.hp1 HG01192.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 others(31): Show |
34 | 70 | 0.4857 | -7 | c.46- others(24): Show |
SH3GL3 | ENSG00000140600.17 | transcript | ENST00000427482.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SH3KBP1_chrX_19528977_19892600 | 19531524 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02486.hp1 HG02615.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0002a0001c0003t0002 | a0001c0001t0002g0001 a0001c0002t0002g0179 a0001c0002t0002g0188 others(5): Show |
8 | 56 | 0.1429 | -7 | c.*48 others(18): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2452 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19690053 | TCTCTCTC | T | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02572.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 others(3): Show |
6 | 202 | 0.0297 | -7 | c.520 others(24): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19887601 | GAAAAAAA | G | upstream_gene_variant | MODIFIER | HG00733.hp1 HG01928.hp1 HG02809.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0015 others(6): Show |
9 | 27 | 0.3333 | -7 | c.-29 others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19889746 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00733.hp1 HG01070.hp1 HG01891.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(15): Show |
18 | 165 | 0.1091 | -7 | c.-24 others(18): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2147 | chrX | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103606376 | ATTTTTTT | A | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp2 HG01884.hp1 others(21): Show |
a0001a0004a0006 | a0001c0001a0004c0011a0006c0013 | a0001c0001t0014a0001c0001t0024a0001c0001t0029others(14): Show | a0001c0001t0014g0101 a0001c0001t0014g0154 a0001c0001t0024g0172 others(21): Show |
24 | 150 | 0.1600 | -7 | c.130 others(24): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 13/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103633727 | CAAAAAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG02559.hp1 HG02896.hp1 others(8): Show |
a0001 | a0001c0001a0001c0009a0001c0014 | a0001c0001t0006a0001c0001t0045a0001c0009t0039others(3): Show | a0001c0001t0006g0089 a0001c0001t0006g0171 a0001c0001t0006g0241 others(8): Show |
11 | 44 | 0.2500 | -7 | c.605 others(24): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 8/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103753317 | CAAAAAAA | C | intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01081.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0024others(8): Show | a0001c0001t0003g0105 a0001c0001t0005g0147 a0001c0001t0024g0172 others(10): Show |
13 | 131 | 0.0992 | -7 | c.229 others(26): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 3/14 | chr10 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172345053 | AAGGAAGG | A | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02451.hp1 others(4): Show |
a0001 | a0001c0005a0001c0012a0001c0020 | a0001c0005t0015a0001c0005t0019a0001c0005t0073others(2): Show | a0001c0005t0015g0012 a0001c0005t0019g0267 a0001c0005t0019g0268 others(4): Show |
7 | 278 | 0.0252 | -7 | c.118 others(26): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 12/12 | chr5 | TogoVar | |||||||
SH3RF1_chr4_169089259_169275956 | 169218320 | TAGAATAC | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(60): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0084 others(60): Show |
63 | 214 | 0.2944 | -7 | c.393 others(26): Show |
SH3RF1 | ENSG00000154447.15 | transcript | ENST00000284637.14 | protein_coding | 2/11 | chr4 | TogoVar | |||||||
SH3RF1_chr4_169089259_169275956 | 169218390 | TTATAGAA | T | intron_variant | MODIFIER | HG01109.hp2 HG02258.hp2 HG02572.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0030a0001c0002t0003others(2): Show | a0001c0001t0002g0114 a0001c0001t0030g0214 a0001c0002t0003g0008 others(5): Show |
8 | 214 | 0.0374 | -7 | c.393 others(26): Show |
SH3RF1 | ENSG00000154447.15 | transcript | ENST00000284637.14 | protein_coding | 2/11 | chr4 | TogoVar | |||||||
SH3RF1_chr4_169089259_169275956 | 169273808 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00423.hp2 HG01884.hp2 HG01891.hp2 others(25): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0200 others(25): Show |
28 | 66 | 0.4242 | -7 | c.-30 others(18): Show |
SH3RF1 | ENSG00000154447.15 | transcript | ENST00000284637.14 | protein_coding | 2853 | chr4 | TogoVar | |||||||
SH3RF2_chr5_145931578_146068292 | 146033451 | CTTTTTTT | C | intron_variant | MODIFIER | HG01069.hp2 HG02451.hp1 HG02809.hp2 others(6): Show |
a0001a0004a0007others(2): Show | a0001c0001a0001c0010a0001c0011others(4): Show | a0001c0001t0001a0001c0010t0001a0001c0010t0002others(5): Show | a0001c0001t0001g0203 a0001c0010t0001g0041 a0001c0010t0001g0253 others(6): Show |
9 | 56 | 0.1607 | -7 | c.106 others(28): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SH3RF2_chr5_145931578_146068292 | 146064643 | AAAGAAAG | A | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00733.hp2 NA18991.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0045 a0002c0002t0001g0152 a0002c0002t0001g0175 |
3 | 270 | 0.0111 | -7 | c.*19 others(18): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 1352 | chr5 | TogoVar | |||||||
SH3RF2_chr5_145931578_146068292 | 146064789 | AAGGAAGG | A | downstream_gene_variant | MODIFIER | HG02809.hp1 HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0099 a0001c0005t0001g0206 a0001c0005t0001g0207 |
3 | 247 | 0.0121 | -7 | c.*20 others(18): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 1498 | chr5 | TogoVar | |||||||
SH3RF3_chr2_109124205_109509634 | 109278010 | CAAAAAAA | C | intron_variant | MODIFIER | HG02027.hp2 HG02165.hp1 HG03942.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0019a0002c0013others(2): Show | a0001c0001t0011a0001c0019t0004a0002c0013t0033others(3): Show | a0001c0001t0011g0119 a0001c0019t0004g0059 a0002c0013t0033g0168 others(3): Show |
6 | 104 | 0.0577 | -7 | c.574 others(26): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109495477 | CTTTTTTT | C | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0001t0018a0001c0004t0010 | a0001c0001t0005g0042 a0001c0001t0018g0130 a0001c0001t0018g0133 others(3): Show |
6 | 42 | 0.1429 | -7 | c.248 others(26): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3TC1_chr4_8194290_8246103 | 8234197 | TCCATCCA | T | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG01243.hp1 others(39): Show |
a0001a0002a0021others(6): Show | a0001c0002a0001c0008a0001c0009others(15): Show | a0001c0002t0001a0001c0008t0001a0001c0009t0002others(18): Show | a0001c0002t0001g0173 a0001c0008t0001g0200 a0001c0009t0002g0143 others(39): Show |
42 | 372 | 0.1129 | -7 | c.328 others(24): Show |
SH3TC1 | ENSG00000125089.18 | transcript | ENST00000245105.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHB_chr9_37910898_38074227 | 37937311 | GGCCATAA | G | intron_variant | MODIFIER | HG02055.hp1 HG02922.hp1 HG02976.hp2 |
a0001a0004 | a0001c0001a0004c0018 | a0001c0001t0063a0004c0018t0017 | a0001c0001t0063g0234 a0004c0018t0017g0248 a0004c0018t0017g0249 |
3 | 328 | 0.0091 | -7 | c.134 others(28): Show |
SHB | ENSG00000107338.10 | transcript | ENST00000377707.4 | protein_coding | 5/5 | chr9 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 466026 | ATGGATGG | A | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02622.hp2 others(4): Show |
a0001 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0005a0001c0005t0006a0001c0005t0015others(2): Show | a0001c0001t0005g0027 a0001c0001t0005g0037 a0001c0001t0005g0040 others(4): Show |
7 | 210 | 0.0333 | -7 | c.-50 others(18): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 4994 | chr19 | TogoVar | |||||||
SHC3_chr9_89000771_89183818 | 89027594 | GCATAAGC | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(153): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(55): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(148): Show |
156 | 186 | 0.8387 | -7 | c.165 others(28): Show |
SHC3 | ENSG00000148082.10 | transcript | ENST00000375835.9 | protein_coding | 11/11 | chr9 | TogoVar | |||||||
SHC3_chr9_89000771_89183818 | 89097106 | GAAAAAAA | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(140): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(133): Show |
143 | 159 | 0.8994 | -7 | c.545 others(26): Show |
SHC3 | ENSG00000148082.10 | transcript | ENST00000375835.9 | protein_coding | 2/11 | chr9 | TogoVar | |||||||
SHC4_chr15_48818741_48968919 | 48854274 | CATATCAT | C | intron_variant | MODIFIER | HG02723.hp2 HG02965.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0066 a0001c0001t0010g0112 a0001c0001t0010g0193 |
3 | 382 | 0.0079 | -7 | c.124 others(26): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 8/11 | chr15 | TogoVar | |||||||
SHC4_chr15_48818741_48968919 | 48916311 | ACACACAC | A | intron_variant | MODIFIER | HG00597.hp2 HG02071.hp1 HG04204.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0003 | a0001c0001t0001g0263 a0001c0001t0001g0282 a0001c0001t0002g0358 others(1): Show |
4 | 382 | 0.0105 | -7 | c.656 others(24): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 2/11 | chr15 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182924700 | GGAAGAAA | G | intron_variant | MODIFIER | HG01168.hp1 HG01496.hp2 HG02818.hp2 others(4): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0106 a0001c0001t0001g0159 a0001c0001t0001g0198 others(4): Show |
7 | 292 | 0.0240 | -7 | c.118 others(26): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182931943 | ATTTTTTT | A | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG00738.hp1 others(8): Show |
a0005a0006 | a0005c0005a0006c0007 | a0005c0005t0001a0006c0007t0001 | a0005c0005t0001g0044 a0005c0005t0001g0045 a0005c0005t0001g0047 others(8): Show |
11 | 131 | 0.0840 | -7 | c.107 others(26): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182952192 | ATATATAT | A | intron_variant | MODIFIER | HG00544.hp2 HG01168.hp1 HG01433.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0199 a0001c0001t0001g0211 a0001c0001t0001g0242 others(3): Show |
6 | 278 | 0.0216 | -7 | c.405 others(22): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
SHCBP1_chr16_46573591_46626379 | 46593726 | AAGTCCCT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp1 others(173): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(152): Show |
176 | 182 | 0.9670 | -7 | c.146 others(26): Show |
SHCBP1 | ENSG00000171241.9 | transcript | ENST00000303383.8 | protein_coding | 10/12 | chr16 | TogoVar | |||||||
SHD_chr19_4274266_4295722 | 4286248 | TTTCTTTC | T | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp2 HG02809.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0005t0001 | a0001c0001t0003g0149 a0001c0001t0003g0316 a0001c0001t0003g0317 others(3): Show |
6 | 409 | 0.0147 | -7 | c.716 others(24): Show |
SHD | ENSG00000105251.11 | transcript | ENST00000543264.7 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SHH_chr7_155794980_155817463 | 155802076 | CAAAAAAA | C | 3_prime_UTR_variant | MODIFIER | HG02622.hp1 HG02630.hp1 HG02809.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0053a0001c0001t0071others(2): Show | a0001c0001t0022g0025 a0001c0001t0022g0102 a0001c0001t0053g0055 others(3): Show |
7 | 63 | 0.1111 | -7 | c.*81 others(16): Show |
SHH | ENSG00000164690.8 | transcript | ENST00000297261.7 | protein_coding | 3/3 | 817 | chr7 | TogoVar | ||||||
SHISA2_chr13_26039597_26057016 | 26040609 | TTTTTTTC | T | downstream_gene_variant | MODIFIER | HG01496.hp2 HG01884.hp2 HG02055.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0012a0001c0003t0066 | a0001c0001t0012g0032 a0001c0001t0012g0128 a0001c0001t0012g0170 others(3): Show |
8 | 454 | 0.0176 | -7 | c.*58 others(18): Show |
SHISA2 | ENSG00000180730.5 | transcript | ENST00000319420.4 | protein_coding | 3987 | chr13 | TogoVar | |||||||
SHISA6_chr17_11236213_11569063 | 11237427 | GAAGAAGA | G | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02809.hp1 NA20300.hp2 |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0004a0001c0004t0016 | a0001c0001t0001g0085 a0001c0003t0004g0139 a0001c0004t0016g0102 |
3 | 190 | 0.0158 | -7 | c.-39 others(18): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 3785 | chr17 | TogoVar | |||||||
SHISA6_chr17_11236213_11569063 | 11320668 | AAAGAGAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(84): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0024 others(84): Show |
87 | 190 | 0.4579 | -7 | c.799 others(26): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |