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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SHROOM2_chrX_9781429_9954443 | 9917502 | TTTGTTG | T | intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0147 | 1 | 256 | 0.0039 | -6 | c.289 others(27): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9927356 | CAAAAAA | C | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp2 NA19240.hp1 others(1): Show |
a0003a0004a0033 | a0003c0008a0004c0023a0033c0052 | a0003c0008t0003a0003c0008t0004a0004c0023t0008others(1): Show | a0003c0008t0003g0210 a0003c0008t0004g0119 a0004c0023t0008g0254 others(1): Show |
4 | 256 | 0.0156 | -6 | c.289 others(25): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9930514 | AAAAAAG | A | intron_variant | MODIFIER | HG00408.hp1 HG02080.hp2 HG02083.hp1 others(14): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0017a0002c0005others(9): Show | a0001c0001t0001a0001c0017t0026a0001c0017t0028others(12): Show | a0001c0001t0001g0017 a0001c0017t0026g0041 a0001c0017t0028g0161 others(14): Show |
17 | 256 | 0.0664 | -6 | c.289 others(25): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9935310 | TTTATTA | T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01243.hp1 others(4): Show |
a0002a0004a0012others(2): Show | a0002c0016a0004c0015a0004c0067others(3): Show | a0002c0016t0008a0004c0015t0002a0004c0067t0011others(3): Show | a0002c0016t0008g0125 a0004c0015t0002g0121 a0004c0067t0011g0230 others(4): Show |
7 | 256 | 0.0273 | -6 | c.358 others(25): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9941971 | CAAAAAA | C | intron_variant | MODIFIER | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(56): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0002c0005others(25): Show | a0001c0001t0017a0002c0002t0002a0002c0005t0002others(31): Show | a0001c0001t0017g0204 a0002c0002t0002g0005 a0002c0002t0002g0028 others(56): Show |
59 | 256 | 0.2305 | -6 | c.431 others(25): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9950802 | ATTTTTT | A | downstream_gene_variant | MODIFIER | HG00438.hp2 HG01928.hp1 HG01934.hp1 others(13): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0002c0002others(8): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0002others(9): Show | a0001c0001t0001g0250 a0001c0003t0001g0165 a0001c0003t0001g0184 others(13): Show |
16 | 256 | 0.0625 | -6 | c.*38 others(17): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1360 | chrX | TogoVar | |||||||
SHROOM3_chr4_76430229_76788253 | 76557226 | TACACAC | T | intron_variant | MODIFIER | HG02451.hp1 HG02615.hp1 HG03195.hp2 others(4): Show |
a0001a0002a0009others(3): Show | a0001c0015a0002c0020a0009c0021others(3): Show | a0001c0015t0009a0002c0020t0001a0009c0021t0009others(3): Show | a0001c0015t0009g0059 a0001c0015t0009g0111 a0002c0020t0001g0058 others(4): Show |
7 | 218 | 0.0321 | -6 | c.323 others(23): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76573381 | CAATAAT | C | intron_variant | MODIFIER | HG00140.hp2 HG00621.hp2 HG00639.hp2 others(84): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0019a0001c0036others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(37): Show | a0001c0001t0001g0174 a0001c0001t0002g0042 a0001c0001t0002g0110 others(84): Show |
87 | 218 | 0.3991 | -6 | c.323 others(25): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76596581 | AACACAC | A | intron_variant | MODIFIER | HG01891.hp1 HG02074.hp1 NA18981.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0002c0002t0003a0003c0003t0001 | a0001c0001t0002g0090 a0001c0001t0002g0117 a0002c0002t0003g0206 others(1): Show |
4 | 218 | 0.0184 | -6 | c.323 others(25): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76633673 | AAAAAAG | A | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG00642.hp1 others(52): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0019a0001c0035others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(25): Show | a0001c0001t0001g0174 a0001c0001t0002g0009 a0001c0001t0002g0159 others(52): Show |
55 | 218 | 0.2523 | -6 | c.324 others(25): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76667966 | CAAAAAA | C | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG00642.hp1 others(55): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0019a0002c0002others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(28): Show | a0001c0001t0001g0174 a0001c0001t0002g0105 a0001c0001t0002g0159 others(55): Show |
58 | 218 | 0.2661 | -6 | c.324 others(25): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76705307 | AAACAAC | A | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG00639.hp2 others(77): Show |
a0001a0002a0004others(15): Show | a0001c0015a0001c0017a0001c0019others(26): Show | a0001c0015t0009a0001c0017t0011a0001c0019t0001others(33): Show | a0001c0015t0009g0059 a0001c0015t0009g0111 a0001c0017t0011g0217 others(77): Show |
80 | 218 | 0.3670 | -6 | c.324 others(23): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76720151 | GTTTTTT | G | intron_variant | MODIFIER | HG00735.hp1 HG01255.hp2 HG01257.hp2 others(51): Show |
a0001a0002a0009others(9): Show | a0001c0019a0002c0002a0002c0020others(12): Show | a0001c0019t0001a0002c0002t0001a0002c0002t0003others(17): Show | a0001c0019t0001g0030 a0002c0002t0001g0003 a0002c0002t0001g0010 others(51): Show |
54 | 218 | 0.2477 | -6 | c.455 others(23): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76746781 | CATTATT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(58): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0015a0001c0017others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(24): Show | a0001c0001t0001g0174 a0001c0001t0002g0001 a0001c0001t0002g0018 others(58): Show |
61 | 218 | 0.2798 | -6 | c.375 others(25): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76770324 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(33): Show |
a0001a0009a0026 | a0001c0001a0001c0035a0009c0011others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0012others(5): Show | a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0018 others(33): Show |
36 | 218 | 0.1651 | -6 | c.535 others(23): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76770348 | AAAACAG | A | intron_variant | MODIFIER | HG02895.hp2 HG02896.hp1 HG02976.hp1 others(2): Show |
a0001a0012 | a0001c0017a0012c0010 | a0001c0017t0011a0012c0010t0001a0012c0010t0015 | a0001c0017t0011g0217 a0001c0017t0011g0218 a0012c0010t0001g0044 others(2): Show |
5 | 218 | 0.0229 | -6 | c.535 others(23): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM4_chrX_50581796_50819194 | 50615098 | TTGTGTG | T | intron_variant | MODIFIER | HG01081.hp2 HG01884.hp1 HG02486.hp1 others(14): Show |
a0003a0004a0006others(1): Show | a0003c0004a0004c0003a0006c0006others(1): Show | a0003c0004t0001a0003c0004t0005a0003c0004t0006others(7): Show | a0003c0004t0001g0084 a0003c0004t0005g0125 a0003c0004t0006g0042 others(14): Show |
17 | 175 | 0.0971 | -6 | c.295 others(25): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 5/8 | chrX | TogoVar | |||||||
SHROOM4_chrX_50581796_50819194 | 50646527 | AGTGTGT | A | intron_variant | MODIFIER | HG01433.hp1 HG02027.hp1 HG02074.hp1 others(7): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(2): Show | a0001c0001t0001g0036 a0001c0001t0001g0106 a0001c0001t0001g0113 others(7): Show |
10 | 175 | 0.0571 | -6 | c.270 others(23): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 2/8 | chrX | TogoVar | |||||||
SHROOM4_chrX_50581796_50819194 | 50673293 | GAAAGGT | G | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0002c0002t0001 | a0001c0001t0011g0150 a0002c0002t0001g0151 |
2 | 175 | 0.0114 | -6 | c.269 others(25): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 2/8 | chrX | TogoVar | |||||||
SHROOM4_chrX_50581796_50819194 | 50772008 | ATGTGTG | A | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00735.hp1 others(29): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0018a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0026others(13): Show | a0001c0001t0001g0005 a0001c0001t0001g0026 a0001c0001t0001g0028 others(29): Show |
32 | 175 | 0.1829 | -6 | c.117 others(25): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 1/8 | chrX | TogoVar | |||||||
SHROOM4_chrX_50581796_50819194 | 50794902 | GTATATA | G | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0006 | 1 | 175 | 0.0057 | -6 | c.117 others(25): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 1/8 | chrX | TogoVar | |||||||
SHROOM4_chrX_50581796_50819194 | 50816758 | CTGTGTG | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(92): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0002a0002c0022others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 others(92): Show |
95 | 175 | 0.5429 | -6 | c.-27 others(17): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 2565 | chrX | TogoVar | |||||||
SHTN1_chr10_116876477_117010187 | 116899544 | TGTGAGA | T | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00639.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(5): Show | a0001c0001t0001g0061 a0001c0001t0001g0075 a0001c0001t0001g0091 others(35): Show |
38 | 292 | 0.1301 | -6 | c.167 others(25): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 16/16 | chr10 | TogoVar | |||||||
SHTN1_chr10_116876477_117010187 | 116963035 | GTTTTTT | G | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG02080.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0015others(4): Show | a0001c0001t0003g0186 a0001c0001t0004g0283 a0001c0001t0015g0148 others(5): Show |
8 | 292 | 0.0274 | -6 | c.173 others(23): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 3/16 | chr10 | TogoVar | |||||||
SHTN1_chr10_116876477_117010187 | 116986716 | CTTTTTT | C | intron_variant | MODIFIER | HG02083.hp2 HG02155.hp2 HG03491.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0011 | a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 others(4): Show |
7 | 292 | 0.0240 | -6 | c.59- others(21): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 1/16 | chr10 | TogoVar | |||||||
SHTN1_chr10_116876477_117010187 | 116990264 | TTTTTTC | T | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0012 a0001c0001t0019g0013 a0001c0001t0019g0014 |
3 | 292 | 0.0103 | -6 | c.59- others(23): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 1/16 | chr10 | TogoVar | |||||||
SIAE_chr11_124628113_124678739 | 124671367 | AAATAAT | A | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02257.hp2 others(10): Show |
a0003a0010 | a0003c0003a0010c0014 | a0003c0003t0002a0010c0014t0002 | a0003c0003t0002g0006 a0003c0003t0002g0011 a0003c0003t0002g0222 others(5): Show |
13 | 290 | 0.0448 | -6 | c.68- others(21): Show |
SIAE | ENSG00000110013.13 | transcript | ENST00000263593.8 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
SIAH2_chr3_150736125_150768169 | 150739428 | CTTTTCT | C | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02257.hp2 HG02258.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0057 others(5): Show |
12 | 346 | 0.0347 | -6 | c.*27 others(17): Show |
SIAH2 | ENSG00000181788.4 | transcript | ENST00000312960.4 | protein_coding | 1696 | chr3 | TogoVar | |||||||
SIAH3_chr13_45772242_45856753 | 45804963 | AACACAC | A | intron_variant | MODIFIER | HG01192.hp1 HG01243.hp2 HG02280.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(11): Show | a0001c0001t0001g0201 a0001c0001t0002g0140 a0001c0001t0008g0031 others(13): Show |
16 | 364 | 0.0440 | -6 | c.136 others(25): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
SIAH3_chr13_45772242_45856753 | 45822520 | AATATAT | A | intron_variant | MODIFIER | HG01975.hp2 HG02451.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0102a0001c0001t0111 | a0001c0001t0018g0030 a0001c0001t0102g0039 a0001c0001t0111g0024 |
3 | 364 | 0.0082 | -6 | c.135 others(25): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
SIAH3_chr13_45772242_45856753 | 45850919 | CCACACA | C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00609.hp1 others(83): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0141 a0001c0001t0001g0150 a0001c0001t0001g0158 others(81): Show |
86 | 364 | 0.2363 | -6 | c.135 others(21): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
SIDT1_chr3_113527555_113634575 | 113541111 | AATATAT | A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00544.hp1 others(52): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0002a0001c0005others(22): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(25): Show | a0001c0001t0001g0261 a0001c0001t0003g0268 a0001c0002t0001g0264 others(52): Show |
55 | 318 | 0.1730 | -6 | c.222 others(23): Show |
SIDT1 | ENSG00000072858.11 | transcript | ENST00000264852.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SIDT1_chr3_113527555_113634575 | 113542902 | TTGTGTG | T | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01069.hp1 others(40): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(12): Show | a0001c0001t0001g0118 a0001c0001t0001g0270 a0001c0001t0001g0278 others(40): Show |
43 | 318 | 0.1352 | -6 | c.222 others(23): Show |
SIDT1 | ENSG00000072858.11 | transcript | ENST00000264852.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SIDT1_chr3_113527555_113634575 | 113551824 | GGTGTGT | G | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG02083.hp2 others(15): Show |
a0002a0008a0009others(1): Show | a0002c0003a0002c0021a0008c0020others(2): Show | a0002c0003t0001a0002c0021t0001a0008c0020t0001others(2): Show | a0002c0003t0001g0012 a0002c0003t0001g0014 a0002c0003t0001g0017 others(15): Show |
18 | 318 | 0.0566 | -6 | c.223 others(25): Show |
SIDT1 | ENSG00000072858.11 | transcript | ENST00000264852.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SIDT1_chr3_113527555_113634575 | 113623192 | TAAAAAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(56): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0093 a0001c0001t0001g0117 others(55): Show |
59 | 318 | 0.1855 | -6 | c.209 others(23): Show |
SIDT1 | ENSG00000072858.11 | transcript | ENST00000264852.9 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SIDT2_chr11_117173743_117202442 | 117174164 | TTGTGTG | T | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02818.hp1 HG03209.hp2 others(4): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0020 a0001c0001t0001g0106 a0001c0001t0002g0138 others(4): Show |
7 | 430 | 0.0163 | -6 | c.-50 others(17): Show |
SIDT2 | ENSG00000149577.17 | transcript | ENST00000324225.9 | protein_coding | 4578 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401803 | CCCCCGA | C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG01099.hp1 HG02027.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0003c0007t0001 | a0001c0001t0001g0112 a0001c0001t0001g0153 a0001c0001t0001g0164 others(3): Show |
6 | 242 | 0.0248 | -6 | c.*40 others(17): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3912 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 411103 | CGGGCGG | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(106): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(104): Show |
109 | 242 | 0.4504 | -6 | c.-15 others(25): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 411712 | CGGTGGG | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(93): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0004a0003c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(89): Show |
96 | 242 | 0.3967 | -6 | c.-15 others(25): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
SIGLEC12_chr19_51486227_51506800 | 51486713 | TCTTTTC | T | downstream_gene_variant | MODIFIER | HG02258.hp2 HG02976.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0006 a0001c0003t0001g0080 |
4 | 432 | 0.0093 | -6 | c.*49 others(17): Show |
SIGLEC12 | ENSG00000254521.7 | transcript | ENST00000291707.8 | protein_coding | 4513 | chr19 | TogoVar | |||||||
SIGLEC12_chr19_51486227_51506800 | 51493193 | TCACAGC | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(158): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0003a0001c0010others(27): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(33): Show | a0001c0002t0001g0012 a0001c0002t0001g0034 a0001c0002t0001g0102 others(67): Show |
161 | 432 | 0.3727 | -6 | c.160 others(25): Show |
SIGLEC12 | ENSG00000254521.7 | transcript | ENST00000291707.8 | protein_coding | 7/7 | chr19 | TogoVar | |||||||
SIGLEC14_chr19_51634478_51651825 | 51641987 | TAAAAAG | T | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG01074.hp1 others(37): Show |
a0001a0003a0007others(3): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0003a0001c0001t0022a0001c0001t0044others(20): Show | a0001c0001t0003g0127 a0001c0001t0003g0131 a0001c0001t0022g0020 others(28): Show |
40 | 300 | 0.1333 | -6 | c.*13 others(17): Show |
SIGLEC14 | ENSG00000254415.4 | transcript | ENST00000360844.7 | protein_coding | 7/7 | 1362 | chr19 | TogoVar | ||||||
SIGLEC1_chr20_3681970_3717600 | 3694174 | GACACAC | G | intron_variant | MODIFIER | HG00741.hp1 HG02055.hp2 HG02257.hp2 others(7): Show |
a0002a0004a0005others(1): Show | a0002c0003a0004c0005a0005c0033others(2): Show | a0002c0003t0002a0004c0005t0002a0005c0033t0010others(2): Show | a0002c0003t0002g0136 a0004c0005t0002g0190 a0004c0005t0002g0194 others(5): Show |
10 | 428 | 0.0234 | -6 | c.325 others(21): Show |
SIGLEC1 | ENSG00000088827.14 | transcript | ENST00000344754.6 | protein_coding | 13/21 | chr20 | TogoVar | |||||||
SIGLEC1_chr20_3681970_3717600 | 3700697 | CTTTTTT | C | intron_variant | MODIFIER | HG02109.hp1 HG02809.hp2 NA18939.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0002t0003a0001c0002t0005others(4): Show | a0001c0001t0001g0070 a0001c0001t0001g0287 a0001c0002t0003g0080 others(5): Show |
8 | 428 | 0.0187 | -6 | c.152 others(23): Show |
SIGLEC1 | ENSG00000088827.14 | transcript | ENST00000344754.6 | protein_coding | 7/21 | chr20 | TogoVar | |||||||
SIGLEC5_chr19_51605960_51635401 | 51608748 | GTGTGTA | G | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG01074.hp1 others(39): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0006a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 others(31): Show |
42 | 414 | 0.1015 | -6 | c.*34 others(17): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 2211 | chr19 | TogoVar | |||||||
SIGLEC5_chr19_51605960_51635401 | 51618792 | CAAAAAA | C | intron_variant | MODIFIER | HG02257.hp2 HG02630.hp1 HG02818.hp1 others(3): Show |
a0002 | a0002c0005 | a0002c0005t0001a0002c0005t0006 | a0002c0005t0001g0230 a0002c0005t0006g0014 a0002c0005t0006g0231 others(1): Show |
6 | 414 | 0.0145 | -6 | c.146 others(25): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 8/8 | chr19 | TogoVar | |||||||
SIGLEC8_chr19_51445997_51463454 | 51459504 | AGATGAT | A | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01891.hp1 HG02451.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0005a0003c0003t0016 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0002c0002t0005g0047 others(1): Show |
4 | 452 | 0.0089 | -6 | c.-11 others(17): Show |
SIGLEC8 | ENSG00000105366.15 | transcript | ENST00000321424.7 | protein_coding | 1051 | chr19 | TogoVar | |||||||
SIGLEC8_chr19_51445997_51463454 | 51459532 | GATGATT | G | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02922.hp1 HG02970.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0007 a0002c0002t0002g0048 |
7 | 452 | 0.0155 | -6 | c.-11 others(17): Show |
SIGLEC8 | ENSG00000105366.15 | transcript | ENST00000321424.7 | protein_coding | 1079 | chr19 | TogoVar | |||||||
SIGLEC8_chr19_51445997_51463454 | 51459535 | GATTATT | G | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02723.hp2 others(4): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0002c0002t0003a0003c0003t0004 | a0002c0002t0002g0018 a0002c0002t0003g0004 a0003c0003t0004g0074 |
7 | 452 | 0.0155 | -6 | c.-11 others(17): Show |
SIGLEC8 | ENSG00000105366.15 | transcript | ENST00000321424.7 | protein_coding | 1082 | chr19 | TogoVar | |||||||
SIGLEC8_chr19_51445997_51463454 | 51461094 | GGTGTGT | G | upstream_gene_variant | MODIFIER | HG00621.hp1 HG02738.hp1 NA19063.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0001 a0002c0002t0003g0004 |
3 | 452 | 0.0066 | -6 | c.-27 others(17): Show |
SIGLEC8 | ENSG00000105366.15 | transcript | ENST00000321424.7 | protein_coding | 2641 | chr19 | TogoVar |