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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SGPP2_chr2_222419543_222567621 | 222448951 | C | CAGCGAGT | intron_variant | MODIFIER | HG03453.hp2 HG03516.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0035 | a0001c0001t0021g0045 a0001c0001t0021g0080 a0001c0001t0035g0044 |
3 | 270 | 0.0111 | 7 | c.219 others(26): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SGPP2_chr2_222419543_222567621 | 222453118 | T | TAAATATG | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(201): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0034 others(201): Show |
204 | 270 | 0.7556 | 7 | c.220 others(26): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
SGPP2_chr2_222419543_222567621 | 222467950 | G | GAAAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG01515.hp2 others(8): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0151 others(8): Show |
11 | 57 | 0.1930 | 7 | c.220 others(24): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24847932 | T | TCCCACCC | intron_variant | MODIFIER | HG01243.hp2 HG01258.hp2 HG02109.hp1 others(14): Show |
a0001a0003a0004others(3): Show | a0001c0005a0001c0020a0003c0021others(6): Show | a0001c0005t0001a0001c0005t0009a0001c0005t0013others(10): Show | a0001c0005t0001g0009 a0001c0005t0001g0045 a0001c0005t0001g0122 others(14): Show |
17 | 336 | 0.0506 | 7 | c.302 others(22): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24858654 | A | AAAAAAAG | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00642.hp2 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0053 a0001c0001t0001g0079 a0001c0001t0001g0142 others(27): Show |
30 | 325 | 0.0923 | 7 | c.802 others(24): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 8/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24907933 | A | AAAAAAAG | intron_variant | MODIFIER | HG00423.hp2 HG01884.hp2 HG02055.hp1 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0023others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0315 a0001c0001t0002g0153 a0001c0001t0002g0231 others(28): Show |
31 | 140 | 0.2214 | 7 | c.281 others(26): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGTA_chr19_2749715_2788273 | 2754559 | A | ATGACCTG | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG02559.hp2 others(11): Show |
a0001 | a0001c0003a0001c0007a0001c0009 | a0001c0003t0005a0001c0003t0017a0001c0007t0014others(2): Show | a0001c0003t0005g0012 a0001c0003t0005g0301 a0001c0003t0005g0302 others(8): Show |
14 | 394 | 0.0355 | 7 | c.*13 others(18): Show |
SGTA | ENSG00000104969.11 | transcript | ENST00000221566.7 | protein_coding | 155 | chr19 | TogoVar | |||||||
SGTA_chr19_2749715_2788273 | 2754578 | C | CCGTGACG | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02615.hp2 HG02895.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0012a0001c0003t0013 | a0001c0003t0012g0313 a0001c0003t0012g0314 a0001c0003t0013g0309 others(1): Show |
4 | 204 | 0.0196 | 7 | c.*13 others(18): Show |
SGTA | ENSG00000104969.11 | transcript | ENST00000221566.7 | protein_coding | 136 | chr19 | TogoVar | |||||||
SH2D1A_chrX_124341563_124378160 | 124371080 | T | TTTATGCC | intron_variant | MODIFIER | HG00597.hp1 NA18947.hp1 NA18949.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 a0001c0001t0001g0139 a0001c0001t0001g0183 others(1): Show |
4 | 316 | 0.0127 | 7 | c.347 others(22): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH2D4A_chr8_19308693_19401218 | 19359736 | A | AAGCACTT | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG02280.hp2 others(10): Show |
a0002a0008a0009 | a0002c0004a0002c0005a0002c0011others(2): Show | a0002c0004t0003a0002c0004t0031a0002c0005t0011others(4): Show | a0002c0004t0003g0178 a0002c0004t0003g0191 a0002c0004t0003g0264 others(10): Show |
13 | 352 | 0.0369 | 7 | c.595 others(24): Show |
SH2D4A | ENSG00000104611.12 | transcript | ENST00000265807.8 | protein_coding | 5/9 | chr8 | TogoVar | |||||||
SH2D4B_chr10_80532902_80651560 | 80549203 | T | TGTGTGTG | intron_variant | MODIFIER | HG00423.hp2 HG00741.hp2 HG01106.hp1 others(14): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0014a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0029 a0001c0001t0001g0146 a0001c0001t0001g0151 others(14): Show |
17 | 139 | 0.1223 | 7 | c.184 others(26): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 1/7 | chr10 | TogoVar | |||||||
SH2D4B_chr10_80532902_80651560 | 80572987 | T | TATATATA | intron_variant | MODIFIER | HG00735.hp1 HG03239.hp2 HG03710.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0003a0002c0002t0001others(1): Show | a0001c0001t0002g0140 a0001c0001t0003g0175 a0002c0002t0001g0188 others(1): Show |
4 | 312 | 0.0128 | 7 | c.495 others(24): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 3/7 | chr10 | TogoVar | |||||||
SH2D4B_chr10_80532902_80651560 | 80629036 | A | AAAAAAAG | intron_variant | MODIFIER | HG00735.hp2 HG02109.hp2 HG02559.hp1 others(4): Show |
a0004a0005 | a0004c0004a0005c0005 | a0004c0004t0001a0004c0004t0002a0005c0005t0003others(1): Show | a0004c0004t0001g0250 a0004c0004t0002g0257 a0005c0005t0003g0111 others(4): Show |
7 | 290 | 0.0241 | 7 | c.989 others(24): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SH2D5_chr1_20714731_20737703 | 20717836 | C | CGGCGGGG | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01099.hp2 HG01168.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0005 a0001c0002t0002g0007 a0001c0002t0002g0109 |
8 | 408 | 0.0196 | 7 | c.*39 others(18): Show |
SH2D5 | ENSG00000189410.12 | transcript | ENST00000444387.7 | protein_coding | 1894 | chr1 | TogoVar | |||||||
SH3BP5L_chr1_248805446_248830915 | 248829712 | A | ACCTCTCC | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01981.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0006 a0001c0001t0001g0170 a0001c0001t0007g0179 |
3 | 352 | 0.0085 | 7 | c.-43 others(18): Show |
SH3BP5L | ENSG00000175137.11 | transcript | ENST00000366472.6 | protein_coding | 3798 | chr1 | TogoVar | |||||||
SH3BP5_chr3_15249353_15337586 | 15296694 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(82): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0171 a0001c0001t0001g0173 others(80): Show |
85 | 263 | 0.3232 | 7 | c.330 others(24): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 3/8 | chr3 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151150206 | A | AAAAAAAT | intron_variant | MODIFIER | HG01099.hp1 HG01975.hp1 HG01978.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0208 a0003c0004t0001g0254 a0003c0004t0001g0256 others(6): Show |
9 | 162 | 0.0556 | 7 | c.175 others(24): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 9/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151273589 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG01943.hp2 HG01981.hp1 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0153 a0001c0001t0001g0189 a0001c0005t0001g0001 others(3): Show |
7 | 119 | 0.0588 | 7 | c.113 others(26): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 1/19 | chr4 | TogoVar | |||||||
SH3D21_chr1_36301368_36326347 | 36313972 | C | CTTTTTTT | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG02015.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0089 others(11): Show |
22 | 53 | 0.4151 | 7 | c.769 others(24): Show |
SH3D21 | ENSG00000214193.11 | transcript | ENST00000453908.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SH3GL1_chr19_4355370_4405547 | 4399319 | C | CAAAAAAA | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01109.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0008 a0001c0001t0002g0044 a0001c0001t0002g0045 others(3): Show |
7 | 22 | 0.3182 | 7 | c.45+ others(21): Show |
SH3GL1 | ENSG00000141985.9 | transcript | ENST00000269886.7 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
SH3GL2_chr9_17574066_17802124 | 17614295 | G | GAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG01099.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0027 a0001c0001t0001g0093 a0001c0001t0001g0246 others(3): Show |
6 | 62 | 0.0968 | 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 | 17758561 | C | CAAAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02258.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 a0001c0001t0001g0166 a0001c0001t0001g0223 others(5): Show |
8 | 26 | 0.3077 | 7 | c.115 others(24): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17774907 | A | ATCCTAGG | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG01071.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0254 a0001c0001t0003g0002 a0001c0001t0003g0023 others(7): Show |
10 | 258 | 0.0388 | 7 | c.188 others(26): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL3_chr15_83442341_83623743 | 83600998 | T | TTGGTATA | intron_variant | MODIFIER | HG02723.hp1 HG02818.hp2 HG02897.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0048 others(4): Show |
7 | 322 | 0.0217 | 7 | c.838 others(26): Show |
SH3GL3 | ENSG00000140600.17 | transcript | ENST00000427482.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SH3GLB1_chr1_86699576_86753184 | 86724892 | A | ATATATAT | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01891.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0024 a0001c0001t0013g0083 a0001c0001t0013g0095 |
4 | 105 | 0.0381 | 7 | c.570 others(22): Show |
SH3GLB1 | ENSG00000097033.15 | transcript | ENST00000370558.8 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19551550 | C | CTTTTTTT | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 a0001c0001t0001g0195 a0001c0001t0001g0197 others(4): Show |
7 | 161 | 0.0435 | 7 | c.138 others(26): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19554377 | A | ATATATAT | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0022 others(9): Show |
12 | 134 | 0.0896 | 7 | c.138 others(26): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19852636 | G | GAAAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG01975.hp1 HG02486.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0003t0002a0001c0006t0001 | a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0043 others(4): Show |
7 | 131 | 0.0534 | 7 | c.5-1 others(22): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103662439 | C | CCGGACTG | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02109.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0024a0001c0001t0044others(6): Show | a0001c0001t0023g0231 a0001c0001t0024g0172 a0001c0001t0024g0212 others(9): Show |
12 | 248 | 0.0484 | 7 | c.473 others(24): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 7/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103762014 | C | CTTTTTTT | intron_variant | MODIFIER | HG01081.hp2 HG02109.hp2 HG02257.hp1 others(5): Show |
a0001a0006 | a0001c0001a0001c0004a0006c0013 | a0001c0001t0014a0001c0001t0023a0001c0001t0024others(5): Show | a0001c0001t0014g0154 a0001c0001t0023g0099 a0001c0001t0024g0172 others(5): Show |
8 | 70 | 0.1143 | 7 | c.229 others(24): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 3/14 | chr10 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172329044 | T | TATATACA | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02630.hp2 HG02717.hp1 |
a0001 | a0001c0005a0001c0012 | a0001c0005t0073a0001c0012t0026 | a0001c0005t0073g0216 a0001c0012t0026g0046 a0001c0012t0026g0047 |
3 | 278 | 0.0108 | 7 | c.*93 others(18): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 4454 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172329081 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG00621.hp2 HG02572.hp2 NA19063.hp2 others(3): Show |
a0001a0008 | a0001c0002a0008c0011 | a0001c0002t0001a0001c0002t0057a0001c0002t0064others(1): Show | a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0118 others(3): Show |
6 | 180 | 0.0333 | 7 | c.*92 others(18): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 4417 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172329083 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(18): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0016others(10): Show | a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0012g0244 others(18): Show |
21 | 85 | 0.2471 | 7 | c.*92 others(18): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 4415 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172329540 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp2 others(112): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(38): Show | a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0123 others(112): Show |
115 | 224 | 0.5134 | 7 | c.*88 others(18): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 3958 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172359387 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(90): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0125 a0001c0001t0001g0170 a0001c0001t0002g0036 others(89): Show |
93 | 176 | 0.5284 | 7 | c.563 others(22): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 7/12 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172386585 | G | GTTTTTAT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(163): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0123 others(162): Show |
166 | 278 | 0.5971 | 7 | c.310 others(24): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 4/12 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172408534 | C | CTTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG02145.hp2 HG02486.hp2 others(15): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0004others(3): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0016others(9): Show | a0001c0001t0002g0133 a0001c0001t0010g0022 a0001c0001t0016g0135 others(15): Show |
18 | 123 | 0.1463 | 7 | c.157 others(24): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 2/12 | chr5 | TogoVar | |||||||
SH3RF1_chr4_169089259_169275956 | 169197624 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG01081.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0073 others(18): Show |
21 | 117 | 0.1795 | 7 | c.394 others(26): Show |
SH3RF1 | ENSG00000154447.15 | transcript | ENST00000284637.14 | protein_coding | 2/11 | chr4 | TogoVar | |||||||
SH3RF2_chr5_145931578_146068292 | 146043401 | G | GGAATTCC | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 NA18906.hp2 |
a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0244 a0007c0009t0001g0246 a0007c0009t0001g0247 |
3 | 270 | 0.0111 | 7 | c.106 others(26): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 5/9 | chr5 | TogoVar | |||||||
SH3RF3_chr2_109124205_109509634 | 109206490 | C | CAAAAAAA | intron_variant | MODIFIER | HG03486.hp1 HG03540.hp2 HG03579.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0014others(1): Show | a0001c0001t0005a0001c0003t0059a0001c0003t0062others(2): Show | a0001c0001t0005g0042 a0001c0003t0059g0068 a0001c0003t0062g0067 others(2): Show |
5 | 36 | 0.1389 | 7 | c.573 others(26): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109257309 | A | AGGAAGAG | intron_variant | MODIFIER | HG00639.hp2 HG01175.hp2 HG02257.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0003a0001c0001t0007a0001c0001t0024others(5): Show | a0001c0001t0003g0124 a0001c0001t0007g0145 a0001c0001t0024g0141 others(5): Show |
8 | 172 | 0.0465 | 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 | 109441132 | C | CAAAAAAA | intron_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG02886.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0014others(1): Show | a0001c0001t0037a0001c0001t0050a0001c0003t0020others(2): Show | a0001c0001t0037g0137 a0001c0001t0050g0010 a0001c0003t0020g0089 others(2): Show |
5 | 72 | 0.0694 | 7 | c.182 others(26): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3TC1_chr4_8194290_8246103 | 8211407 | T | TCCACCCG | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG00738.hp1 others(14): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0002c0003others(9): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0002others(9): Show | a0001c0001t0001g0041 a0001c0001t0001g0308 a0001c0001t0001g0309 others(13): Show |
17 | 368 | 0.0462 | 7 | c.248 others(24): Show |
SH3TC1 | ENSG00000125089.18 | transcript | ENST00000245105.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SH3TC1_chr4_8194290_8246103 | 8243243 | T | TGATTGTC | downstream_gene_variant | MODIFIER | HG02129.hp2 NA19007.hp1 NA19007.hp2 others(1): Show |
a0001a0002a0023 | a0001c0001a0001c0008a0002c0005others(1): Show | a0001c0001t0001a0001c0008t0001a0002c0005t0001others(1): Show | a0001c0001t0001g0303 a0001c0008t0001g0200 a0002c0005t0001g0169 others(1): Show |
4 | 372 | 0.0108 | 7 | c.*22 others(18): Show |
SH3TC1 | ENSG00000125089.18 | transcript | ENST00000245105.8 | protein_coding | 2141 | chr4 | TogoVar | |||||||
SHANK1_chr19_50654255_50724802 | 50663924 | T | TTTCTTTC | intron_variant | MODIFIER | HG01981.hp2 HG02818.hp1 HG02965.hp2 others(4): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0010a0001c0003t0012a0001c0003t0023others(3): Show | a0001c0003t0010g0078 a0001c0003t0012g0070 a0001c0003t0023g0239 others(4): Show |
7 | 305 | 0.0230 | 7 | c.576 others(26): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | TogoVar | |||||||
SHANK1_chr19_50654255_50724802 | 50672555 | C | CAAAAAAA | intron_variant | MODIFIER | HG01261.hp1 HG01884.hp1 HG01884.hp2 others(8): Show |
a0001a0011 | a0001c0003a0001c0009a0001c0016others(1): Show | a0001c0003t0003a0001c0003t0004a0001c0003t0007others(7): Show | a0001c0003t0003g0253 a0001c0003t0004g0254 a0001c0003t0007g0067 others(8): Show |
11 | 200 | 0.0550 | 7 | c.257 others(24): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | TogoVar | |||||||
SHB_chr9_37910898_38074227 | 37985851 | C | CAGTGACG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(207): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(58): Show | a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 others(204): Show |
210 | 328 | 0.6402 | 7 | c.839 others(26): Show |
SHB | ENSG00000107338.10 | transcript | ENST00000377707.4 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
SHB_chr9_37910898_38074227 | 37998205 | T | TGGAGGGA | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG00621.hp2 others(39): Show |
a0001a0002a0010 | a0001c0002a0001c0003a0001c0007others(2): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0014others(9): Show | a0001c0002t0001g0002 a0001c0002t0001g0080 a0001c0002t0001g0133 others(37): Show |
42 | 252 | 0.1667 | 7 | c.838 others(26): Show |
SHB | ENSG00000107338.10 | transcript | ENST00000377707.4 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182898862 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02559.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0109 a0001c0003t0001g0110 a0001c0003t0001g0115 others(3): Show |
6 | 208 | 0.0288 | 7 | c.*11 others(18): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 1002 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182924695 | G | GGAAGAAA | intron_variant | MODIFIER | HG02155.hp2 HG03471.hp2 NA19086.hp2 |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0009t0001a0002c0002t0001 | a0001c0001t0001g0255 a0001c0009t0001g0289 a0002c0002t0001g0025 |
3 | 293 | 0.0102 | 7 | c.118 others(26): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar |