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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPTB_chr14_64741283_64884907 | 64765037 | TGTGTGC | T | intron_variant | MODIFIER | HG01081.hp1 HG01891.hp1 HG02109.hp2 |
a0002 | a0002c0012 | a0002c0012t0010 | a0002c0012t0010g0001 a0002c0012t0010g0256 |
3 | 268 | 0.0112 | -6 | c.634 others(25): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 32/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64797467 | CAAAAAA | C | intron_variant | MODIFIER | HG00642.hp1 HG01071.hp2 HG01106.hp2 others(26): Show |
a0002a0003a0007others(1): Show | a0002c0003a0002c0007a0002c0023others(8): Show | a0002c0003t0001a0002c0003t0006a0002c0003t0012others(16): Show | a0002c0003t0001g0063 a0002c0003t0006g0150 a0002c0003t0012g0159 others(26): Show |
29 | 268 | 0.1082 | -6 | c.118 others(23): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 10/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64799082 | GGTGTAT | G | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02572.hp1 others(1): Show |
a0001a0006 | a0001c0028a0006c0029 | a0001c0028t0012a0006c0029t0001 | a0001c0028t0012g0172 a0001c0028t0012g0173 a0006c0029t0001g0103 others(1): Show |
4 | 268 | 0.0149 | -6 | c.106 others(23): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 9/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64830334 | CTTATTA | C | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00597.hp1 others(66): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0014others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0144 others(66): Show |
69 | 268 | 0.2575 | -6 | c.-51 others(23): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 1/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64867859 | CAAAAAA | C | intron_variant | MODIFIER | HG01106.hp2 HG01496.hp2 HG01884.hp2 others(11): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0028a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0006a0001c0028t0012others(9): Show | a0001c0001t0001g0156 a0001c0001t0006g0154 a0001c0028t0012g0172 others(11): Show |
14 | 268 | 0.0522 | -6 | c.-52 others(25): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 1/35 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77528793 | TCTTTTA | T | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02572.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0002a0001c0001t0024a0001c0002t0005others(3): Show | a0001c0001t0002g0071 a0001c0001t0024g0220 a0001c0002t0005g0076 others(7): Show |
10 | 246 | 0.0407 | -6 | c.130 others(25): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77531469 | TCCTCCC | T | intron_variant | MODIFIER | HG01069.hp2 HG01243.hp2 HG01516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0140 a0001c0001t0001g0172 a0001c0001t0016g0069 others(1): Show |
4 | 246 | 0.0163 | -6 | c.130 others(25): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77534176 | TCTCACA | T | intron_variant | MODIFIER | HG00733.hp1 HG01069.hp2 HG01243.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0016 | a0001c0001t0001g0140 a0001c0001t0001g0172 a0001c0001t0001g0217 others(5): Show |
8 | 246 | 0.0325 | -6 | c.130 others(27): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77534178 | TCACACA | T | intron_variant | MODIFIER | HG01358.hp2 HG02071.hp2 HG02738.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0034others(4): Show | a0001c0001t0001g0041 a0001c0001t0001g0093 a0001c0001t0012g0225 others(6): Show |
9 | 246 | 0.0366 | -6 | c.130 others(27): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77564400 | TACACAC | T | intron_variant | MODIFIER | HG00733.hp1 HG00741.hp1 HG01123.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(6): Show | a0001c0001t0001g0217 a0001c0001t0003g0117 a0001c0001t0003g0118 others(17): Show |
20 | 246 | 0.0813 | -6 | c.757 others(23): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77602542 | TTGTTTC | T | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp2 HG02622.hp1 others(2): Show |
a0001 | a0001c0003a0001c0009a0001c0010 | a0001c0003t0001a0001c0009t0004a0001c0010t0004 | a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0003t0001g0014 others(2): Show |
5 | 246 | 0.0203 | -6 | c.133 others(23): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77608919 | AAATAAT | A | intron_variant | MODIFIER | HG01884.hp2 HG02559.hp1 HG04228.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0229 a0001c0001t0004g0228 a0001c0001t0005g0128 others(1): Show |
4 | 246 | 0.0163 | -6 | c.132 others(23): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | TogoVar | |||||||
SPTLC3_chr20_13003972_13174103 | 13027470 | CCAGACA | C | intron_variant | MODIFIER | HG00741.hp1 HG01243.hp2 HG01515.hp2 others(6): Show |
a0001a0005 | a0001c0001a0001c0012a0005c0010others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(6): Show | a0001c0001t0001g0292 a0001c0001t0003g0072 a0001c0001t0014g0074 others(6): Show |
9 | 292 | 0.0308 | -6 | c.117 others(25): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13027637 | GCACGCA | G | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp1 HG02559.hp2 |
a0001a0005 | a0001c0001a0005c0010a0005c0011 | a0001c0001t0045a0005c0010t0037a0005c0011t0023 | a0001c0001t0045g0163 a0005c0010t0037g0167 a0005c0011t0023g0166 |
3 | 292 | 0.0103 | -6 | c.117 others(25): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13027641 | GCACACA | G | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp2 HG00673.hp1 others(64): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0134 a0001c0001t0002g0003 a0001c0001t0002g0021 others(64): Show |
67 | 292 | 0.2295 | -6 | c.117 others(25): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13040046 | CGTGTGT | C | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 NA19004.hp1 |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0008a0001c0001t0046a0005c0010t0037 | a0001c0001t0008g0005 a0001c0001t0046g0071 a0005c0010t0037g0167 |
3 | 292 | 0.0103 | -6 | c.118 others(23): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13044995 | CCACACA | C | intron_variant | MODIFIER | HG01106.hp2 HG01123.hp1 HG01496.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0007 | a0001c0001t0001a0001c0003t0011a0001c0003t0041others(1): Show | a0001c0001t0001g0052 a0001c0003t0011g0152 a0001c0003t0011g0153 others(5): Show |
8 | 292 | 0.0274 | -6 | c.118 others(23): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13051221 | ATAAACT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(287): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(101): Show | a0001c0001t0001g0052 a0001c0001t0001g0093 a0001c0001t0001g0095 others(287): Show |
290 | 292 | 0.9932 | -6 | c.303 others(23): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13060814 | TTGTGTG | T | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01123.hp2 others(10): Show |
a0001 | a0001c0005a0001c0014 | a0001c0005t0001a0001c0005t0003a0001c0005t0004others(7): Show | a0001c0005t0001g0089 a0001c0005t0003g0085 a0001c0005t0004g0227 others(10): Show |
13 | 292 | 0.0445 | -6 | c.304 others(25): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13067044 | CATATAT | C | intron_variant | MODIFIER | HG00673.hp1 HG01884.hp1 HG01952.hp1 others(3): Show |
a0002a0004a0005 | a0002c0002a0002c0006a0004c0008others(1): Show | a0002c0002t0002a0002c0002t0062a0002c0006t0006others(2): Show | a0002c0002t0002g0051 a0002c0002t0062g0280 a0002c0006t0006g0028 others(3): Show |
6 | 292 | 0.0206 | -6 | c.304 others(23): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTSSA_chr14_34427788_34467240 | 34442953 | GGGGTGT | G | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02486.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0015others(1): Show | a0001c0001t0002g0030 a0001c0001t0003g0134 a0001c0001t0015g0013 others(2): Show |
5 | 344 | 0.0145 | -6 | c.113 others(23): Show |
SPTSSA | ENSG00000165389.7 | transcript | ENST00000298130.5 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
SPTSSA_chr14_34427788_34467240 | 34462894 | GCACACA | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00544.hp1 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0143 others(46): Show |
49 | 344 | 0.1424 | -6 | c.-69 others(15): Show |
SPTSSA | ENSG00000165389.7 | transcript | ENST00000298130.5 | protein_coding | 655 | chr14 | TogoVar | |||||||
SPTSSA_chr14_34427788_34467240 | 34467217 | AACACAC | A | upstream_gene_variant | MODIFIER | HG00609.hp2 HG00639.hp1 HG00733.hp2 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0020 others(51): Show |
54 | 344 | 0.1570 | -6 | c.-50 others(17): Show |
SPTSSA | ENSG00000165389.7 | transcript | ENST00000298130.5 | protein_coding | 4978 | chr14 | TogoVar | |||||||
SPTSSB_chr3_161339798_161376517 | 161369308 | TTCTTTC | T | intron_variant | MODIFIER | HG00423.hp2 HG01167.hp2 HG01169.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0013 a0001c0001t0001g0040 a0001c0001t0001g0041 others(6): Show |
15 | 412 | 0.0364 | -6 | c.-12 others(25): Show |
SPTSSB | ENSG00000196542.9 | transcript | ENST00000620149.2 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
SPTSSB_chr3_161339798_161376517 | 161373790 | CTTTTAT | C | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02622.hp1 HG02622.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0020 | a0001c0001t0003g0259 a0001c0001t0003g0270 a0001c0001t0003g0279 others(1): Show |
4 | 412 | 0.0097 | -6 | c.-24 others(17): Show |
SPTSSB | ENSG00000196542.9 | transcript | ENST00000620149.2 | protein_coding | 2274 | chr3 | TogoVar | |||||||
SPTY2D1_chr11_18601403_18639342 | 18622954 | AAACAAC | A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02015.hp2 others(10): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0009 | a0001c0001t0003a0001c0001t0009a0001c0001t0011others(7): Show | a0001c0001t0003g0113 a0001c0001t0003g0257 a0001c0001t0003g0259 others(10): Show |
13 | 444 | 0.0293 | -6 | c.61- others(21): Show |
SPTY2D1 | ENSG00000179119.15 | transcript | ENST00000336349.6 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
SQLE_chr8_124993505_125027283 | 125001484 | GTGTGTA | G | intron_variant | MODIFIER | HG02129.hp2 HG03490.hp2 HG03492.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0190 a0001c0001t0001g0191 |
5 | 378 | 0.0132 | -6 | c.292 others(23): Show |
SQLE | ENSG00000104549.12 | transcript | ENST00000265896.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SQLE_chr8_124993505_125027283 | 125026448 | ATCTTTT | A | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02280.hp2 HG02486.hp2 others(4): Show |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0004a0005c0011t0004 | a0001c0001t0004g0031 a0001c0001t0004g0033 a0001c0001t0004g0067 others(4): Show |
7 | 378 | 0.0185 | -6 | c.*45 others(17): Show |
SQLE | ENSG00000104549.12 | transcript | ENST00000265896.10 | protein_coding | 4166 | chr8 | TogoVar | |||||||
SQOR_chr15_45630029_45696281 | 45684592 | TTCTCTC | T | intron_variant | MODIFIER | HG00609.hp1 HG02523.hp2 NA18970.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0006 | a0002c0002t0001g0072 a0002c0002t0001g0117 a0002c0002t0006g0031 |
3 | 340 | 0.0088 | -6 | c.104 others(25): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SQSTM1_chr5_179815905_179843078 | 179823445 | CAAAAAA | C | intron_variant | MODIFIER | HG01884.hp1 HG01943.hp1 HG02055.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0124 a0001c0001t0001g0179 a0001c0001t0001g0188 others(6): Show |
9 | 462 | 0.0195 | -6 | c.302 others(21): Show |
SQSTM1 | ENSG00000161011.20 | transcript | ENST00000389805.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SQSTM1_chr5_179815905_179843078 | 179828369 | CTTTTTT | C | intron_variant | MODIFIER | HG01167.hp2 HG01433.hp1 HG02280.hp2 others(7): Show |
a0001a0007a0008 | a0001c0005a0001c0018a0007c0016others(1): Show | a0001c0005t0001a0001c0018t0005a0007c0016t0005others(1): Show | a0001c0005t0001g0001 a0001c0005t0001g0058 a0001c0005t0001g0078 others(4): Show |
10 | 462 | 0.0217 | -6 | c.754 others(23): Show |
SQSTM1 | ENSG00000161011.20 | transcript | ENST00000389805.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SQSTM1_chr5_179815905_179843078 | 179835675 | GGAGAAA | G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(277): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(247): Show |
280 | 462 | 0.6061 | -6 | c.116 others(23): Show |
SQSTM1 | ENSG00000161011.20 | transcript | ENST00000389805.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SQSTM1_chr5_179815905_179843078 | 179842699 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(96): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(7): Show | a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 others(91): Show |
99 | 462 | 0.2143 | -6 | c.*61 others(17): Show |
SQSTM1 | ENSG00000161011.20 | transcript | ENST00000389805.9 | protein_coding | 4622 | chr5 | TogoVar | |||||||
SQSTM1_chr5_179815905_179843078 | 179843045 | GGAAGGA | G | downstream_gene_variant | MODIFIER | NA18942.hp2 NA18982.hp1 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0007 a0001c0001t0001g0344 a0001c0001t0012g0352 |
3 | 462 | 0.0065 | -6 | c.*64 others(17): Show |
SQSTM1 | ENSG00000161011.20 | transcript | ENST00000389805.9 | protein_coding | 4968 | chr5 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45414983 | TATATAC | T | intron_variant | MODIFIER | HG04228.hp1 NA18983.hp1 NA18989.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0025 a0001c0001t0001g0209 a0001c0001t0001g0212 others(1): Show |
4 | 358 | 0.0112 | -6 | c.233 others(25): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45415079 | TATATAC | T | intron_variant | MODIFIER | HG01975.hp1 HG04115.hp2 NA18940.hp1 others(14): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0004 a0003c0003t0001g0055 a0003c0003t0001g0057 others(14): Show |
17 | 358 | 0.0475 | -6 | c.233 others(25): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45415111 | TATATAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp2 others(44): Show |
a0003a0007 | a0003c0003a0007c0015 | a0003c0003t0001a0003c0003t0004a0007c0015t0001 | a0003c0003t0001g0004 a0003c0003t0001g0055 a0003c0003t0001g0056 others(44): Show |
47 | 358 | 0.1313 | -6 | c.233 others(25): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45415143 | TATATAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp2 others(35): Show |
a0003a0013 | a0003c0003a0013c0017 | a0003c0003t0001a0003c0003t0004a0013c0017t0001 | a0003c0003t0001g0056 a0003c0003t0001g0059 a0003c0003t0001g0070 others(35): Show |
38 | 358 | 0.1062 | -6 | c.233 others(25): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45415175 | TATATAC | T | intron_variant | MODIFIER | HG02602.hp2 NA18989.hp2 NA18991.hp1 others(4): Show |
a0003a0013 | a0003c0003a0013c0017 | a0003c0003t0001a0013c0017t0001 | a0003c0003t0001g0281 a0003c0003t0001g0288 a0003c0003t0001g0297 others(4): Show |
7 | 358 | 0.0196 | -6 | c.233 others(25): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45421506 | CAAACAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp2 others(29): Show |
a0001a0002 | a0001c0001a0001c0014a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0014t0001others(2): Show | a0001c0001t0001g0134 a0001c0001t0001g0159 a0001c0001t0001g0188 others(29): Show |
32 | 358 | 0.0894 | -6 | c.205 others(25): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 16/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45447457 | AAAAAAG | A | intron_variant | MODIFIER | HG02257.hp1 HG02572.hp1 HG02615.hp2 others(6): Show |
a0001a0002a0003 | a0001c0014a0002c0002a0002c0010others(1): Show | a0001c0014t0001a0002c0002t0001a0002c0010t0001others(1): Show | a0001c0014t0001g0178 a0002c0002t0001g0118 a0002c0002t0001g0119 others(6): Show |
9 | 358 | 0.0251 | -6 | c.205 others(27): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 16/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45465000 | TACACAC | T | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG02080.hp1 others(14): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0005t0001others(1): Show | a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0152 others(14): Show |
17 | 358 | 0.0475 | -6 | c.204 others(27): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 16/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45509598 | AACACAC | A | intron_variant | MODIFIER | HG00558.hp1 HG02615.hp2 HG02896.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 others(2): Show |
5 | 358 | 0.0140 | -6 | c.187 others(27): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 14/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45520674 | CAGAGAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp2 others(58): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0014a0002c0002others(6): Show | a0001c0001t0001a0001c0014t0001a0002c0002t0001others(7): Show | a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 others(58): Show |
61 | 358 | 0.1704 | -6 | c.187 others(27): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 14/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45596988 | TCACACA | T | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG01069.hp2 others(19): Show |
a0001a0002a0003 | a0001c0001a0001c0014a0002c0002others(3): Show | a0001c0001t0001a0001c0014t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0031 a0001c0014t0001g0178 a0002c0002t0001g0005 others(19): Show |
22 | 358 | 0.0615 | -6 | c.648 others(23): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 4/20 | chr2 | TogoVar | |||||||
SRCAP_chr16_30694171_30746409 | 30735136 | ATTTTTT | A | intron_variant | MODIFIER | HG02886.hp2 HG03139.hp1 HG03195.hp2 others(3): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0005a0006c0010t0001 | a0001c0001t0005g0010 a0001c0001t0005g0149 a0006c0010t0001g0119 others(1): Show |
6 | 208 | 0.0289 | -6 | c.672 others(23): Show |
SRCAP | ENSG00000080603.17 | transcript | ENST00000262518.9 | protein_coding | 31/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SRCIN1_chr17_38525031_38610952 | 38540740 | GGTGTGT | G | intron_variant | MODIFIER | HG02698.hp2 NA19009.hp2 NA19089.hp1 |
a0001a0010 | a0001c0002a0010c0021 | a0001c0002t0002a0001c0002t0037a0010c0021t0002 | a0001c0002t0002g0139 a0001c0002t0037g0182 a0010c0021t0002g0044 |
3 | 261 | 0.0115 | -6 | c.341 others(25): Show |
SRCIN1 | ENSG00000277363.5 | transcript | ENST00000617146.5 | protein_coding | 18/18 | chr17 | TogoVar | |||||||
SRCIN1_chr17_38525031_38610952 | 38583548 | GTTTTTT | G | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02132.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0028others(11): Show | a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0173 others(22): Show |
26 | 261 | 0.0996 | -6 | c.23- others(21): Show |
SRCIN1 | ENSG00000277363.5 | transcript | ENST00000617146.5 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SRC_chr20_37341140_37411050 | 37365319 | AACACAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(92): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0016 others(90): Show |
95 | 282 | 0.3369 | -6 | c.-17 others(21): Show |
SRC | ENSG00000197122.13 | transcript | ENST00000373578.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SRC_chr20_37341140_37411050 | 37370963 | TTTCTTC | T | intron_variant | MODIFIER | HG01346.hp1 HG01891.hp2 HG02717.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0051others(2): Show | a0001c0001t0001g0013 a0001c0001t0006g0234 a0001c0001t0051g0056 others(3): Show |
6 | 282 | 0.0213 | -6 | c.-17 others(25): Show |
SRC | ENSG00000197122.13 | transcript | ENST00000373578.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |