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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMYD3_chr1_245744347_246512279 | 245798467 | CACACAT | C | intron_variant | MODIFIER | HG00738.hp1 HG02258.hp1 HG02622.hp2 |
a0001a0002 | a0001c0001a0002c0003a0002c0005 | a0001c0001t0001a0002c0003t0001a0002c0005t0002 | a0001c0001t0001g0038 a0002c0003t0001g0133 a0002c0005t0002g0118 |
3 | 150 | 0.0200 | -6 | c.107 others(27): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245813860 | CTATATA | C | intron_variant | MODIFIER | HG02109.hp1 HG02886.hp1 HG02970.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(1): Show | a0001c0001t0001g0018 a0001c0001t0002g0023 a0002c0003t0001g0096 others(2): Show |
5 | 150 | 0.0333 | -6 | c.107 others(27): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245843540 | ATGTGTG | A | intron_variant | MODIFIER | HG00544.hp1 HG00735.hp1 HG00738.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0011 a0001c0001t0001g0034 a0001c0001t0001g0044 others(16): Show |
19 | 150 | 0.1267 | -6 | c.107 others(27): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245860146 | TCAGTGC | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00544.hp1 others(57): Show |
a0001a0002 | a0001c0002a0001c0006a0001c0009others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0006t0001others(12): Show | a0001c0002t0001g0009 a0001c0002t0001g0012 a0001c0002t0001g0013 others(57): Show |
60 | 150 | 0.4000 | -6 | c.902 others(23): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 9/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245920312 | CAAAAAA | C | intron_variant | MODIFIER | HG00621.hp1 HG01433.hp2 HG01952.hp1 others(27): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0042 others(27): Show |
30 | 150 | 0.2000 | -6 | c.703 others(23): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 7/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245921549 | GTATATA | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(85): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(18): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 others(85): Show |
88 | 150 | 0.5867 | -6 | c.703 others(23): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 7/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245988107 | AACACAC | A | intron_variant | MODIFIER | HG00423.hp1 HG00735.hp2 HG00738.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0038 a0001c0001t0001g0055 a0001c0001t0001g0067 others(13): Show |
16 | 150 | 0.1067 | -6 | c.532 others(25): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246074913 | TACACAC | T | intron_variant | MODIFIER | HG00738.hp1 HG01433.hp1 HG02451.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0002c0004t0001 | a0001c0001t0001g0038 a0001c0001t0001g0093 a0001c0001t0002g0017 others(1): Show |
4 | 150 | 0.0267 | -6 | c.532 others(27): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246119005 | ATTTATT | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00621.hp1 others(27): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(12): Show | a0001c0001t0001g0038 a0001c0001t0001g0054 a0001c0001t0001g0059 others(27): Show |
30 | 150 | 0.2000 | -6 | c.532 others(27): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246123963 | ACTATAT | A | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp2 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0002c0005t0001 | a0001c0001t0002g0023 a0002c0005t0001g0138 |
2 | 150 | 0.0133 | -6 | c.532 others(27): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246143126 | TACACAC | T | intron_variant | MODIFIER | HG01981.hp2 HG02145.hp2 HG02451.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0067 a0001c0001t0002g0017 a0001c0002t0001g0012 others(3): Show |
6 | 150 | 0.0400 | -6 | c.531 others(27): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246143160 | CACACAA | C | intron_variant | MODIFIER | HG01243.hp1 HG02257.hp1 HG02451.hp2 |
a0002 | a0002c0007a0002c0008 | a0002c0007t0001a0002c0008t0001 | a0002c0007t0001g0123 a0002c0007t0001g0132 a0002c0008t0001g0128 |
3 | 150 | 0.0200 | -6 | c.531 others(27): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246185467 | TTTTTTG | T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(61): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(13): Show | a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0034 others(61): Show |
64 | 150 | 0.4267 | -6 | c.531 others(27): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246190584 | CAAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG00735.hp2 others(12): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0063 others(12): Show |
15 | 150 | 0.1000 | -6 | c.531 others(27): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246193318 | CATAGAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00741.hp1 HG01109.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0012others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0002t0001g0053 others(7): Show |
10 | 150 | 0.0667 | -6 | c.531 others(27): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246245120 | CTTTTTT | C | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0061 others(15): Show |
18 | 150 | 0.1200 | -6 | c.531 others(25): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246248635 | CCTTTTT | C | intron_variant | MODIFIER | HG01175.hp2 HG01981.hp2 HG02109.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0047 a0001c0001t0002g0017 a0001c0001t0002g0023 others(4): Show |
7 | 150 | 0.0467 | -6 | c.531 others(25): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246261042 | TTTGTTG | T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00733.hp2 others(33): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(13): Show | a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0044 others(33): Show |
36 | 150 | 0.2400 | -6 | c.531 others(25): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246282305 | CAAAAAA | C | intron_variant | MODIFIER | HG00741.hp2 HG02258.hp1 HG02486.hp2 others(3): Show |
a0001a0002 | a0001c0014a0002c0003a0002c0004others(2): Show | a0001c0014t0002a0002c0003t0001a0002c0003t0002others(3): Show | a0001c0014t0002g0091 a0002c0003t0001g0111 a0002c0003t0002g0102 others(3): Show |
6 | 150 | 0.0400 | -6 | c.531 others(25): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246311616 | TCACACG | T | intron_variant | MODIFIER | HG00733.hp2 HG01109.hp1 HG01243.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0002t0002a0002c0003t0002others(5): Show | a0001c0001t0001g0054 a0001c0002t0002g0010 a0002c0003t0002g0114 others(10): Show |
13 | 150 | 0.0867 | -6 | c.531 others(25): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246362441 | GTCTCCC | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(44): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(11): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(44): Show |
47 | 150 | 0.3133 | -6 | c.165 others(23): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246375325 | CTTTTTT | C | intron_variant | MODIFIER | HG00597.hp2 HG00733.hp2 HG00735.hp1 others(34): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(12): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0038 others(34): Show |
37 | 150 | 0.2467 | -6 | c.165 others(25): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246379081 | TACACAC | T | intron_variant | MODIFIER | HG01243.hp2 HG02622.hp2 NA20129.hp2 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0002 | a0002c0003t0001g0133 a0002c0003t0002g0145 a0002c0003t0002g0147 |
3 | 150 | 0.0200 | -6 | c.165 others(25): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246391420 | AAGAGAG | A | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG01109.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(5): Show | a0001c0001t0001g0003 a0001c0002t0001g0013 a0001c0006t0001g0048 others(9): Show |
12 | 150 | 0.0800 | -6 | c.165 others(25): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246457543 | AAAAAAG | A | intron_variant | MODIFIER | HG01243.hp1 HG02300.hp2 HG02717.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0007a0002c0008others(1): Show | a0001c0001t0002a0002c0007t0001a0002c0008t0001others(2): Show | a0001c0001t0002g0014 a0002c0007t0001g0120 a0002c0008t0001g0128 others(2): Show |
5 | 150 | 0.0333 | -6 | c.164 others(25): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246470499 | TAAAAAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(53): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 others(53): Show |
56 | 150 | 0.3733 | -6 | c.164 others(25): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246481621 | TACATAC | T | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG02258.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004others(3): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0002others(5): Show | a0001c0001t0001g0018 a0002c0003t0001g0096 a0002c0003t0001g0137 others(10): Show |
13 | 150 | 0.0867 | -6 | c.164 others(25): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246499401 | TACACAC | T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(58): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 others(58): Show |
61 | 150 | 0.4067 | -6 | c.164 others(23): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246503954 | TAAAAAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(80): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(15): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(80): Show |
83 | 150 | 0.5533 | -6 | c.164 others(23): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SMYD4_chr17_1774485_1834902 | 1794081 | GTATATA | G | intron_variant | MODIFIER | HG00558.hp1 HG02451.hp1 NA19005.hp2 |
a0010a0025 | a0010c0014a0025c0039 | a0010c0014t0006a0025c0039t0039 | a0010c0014t0006g0300 a0010c0014t0006g0301 a0025c0039t0039g0275 |
3 | 390 | 0.0077 | -6 | c.153 others(25): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 5/10 | chr17 | TogoVar | |||||||
SNAI1_chr20_49977980_49993886 | 49982930 | CCCACCA | C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00741.hp2 HG01069.hp1 others(32): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0004g0003 a0001c0001t0005g0004 a0001c0001t0008g0003 others(5): Show |
35 | 440 | 0.0796 | -6 | c.-12 others(15): Show |
SNAI1 | ENSG00000124216.4 | transcript | ENST00000244050.3 | protein_coding | 49 | chr20 | TogoVar | |||||||
SNAI1_chr20_49977980_49993886 | 49992979 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00544.hp2 others(33): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0001t0005g0004 others(5): Show |
36 | 440 | 0.0818 | -6 | c.*49 others(17): Show |
SNAI1 | ENSG00000124216.4 | transcript | ENST00000244050.3 | protein_coding | 4094 | chr20 | TogoVar | |||||||
SNAP23_chr15_42490634_42538058 | 42521873 | CCTTTGA | C | intron_variant | MODIFIER | HG00621.hp1 HG01081.hp2 HG01123.hp2 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0013 others(42): Show |
57 | 308 | 0.1851 | -6 | c.267 others(23): Show |
SNAP23 | ENSG00000092531.10 | transcript | ENST00000249647.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SNAP23_chr15_42490634_42538058 | 42524778 | CATATTT | C | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00733.hp2 others(49): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(3): Show | a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0027 others(45): Show |
52 | 308 | 0.1688 | -6 | c.267 others(23): Show |
SNAP23 | ENSG00000092531.10 | transcript | ENST00000249647.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SNAP25_chr20_10213830_10312418 | 10243924 | TCTTTGC | T | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02451.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0292 a0001c0001t0001g0299 a0001c0001t0002g0296 others(3): Show |
6 | 340 | 0.0177 | -6 | c.-64 others(25): Show |
SNAP25 | ENSG00000132639.15 | transcript | ENST00000254976.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNAP25_chr20_10213830_10312418 | 10252374 | CTACAAT | C | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp2 HG02258.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0328 a0001c0001t0002g0108 a0001c0001t0003g0326 others(2): Show |
5 | 340 | 0.0147 | -6 | c.-63 others(25): Show |
SNAP25 | ENSG00000132639.15 | transcript | ENST00000254976.7 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
SNAP25_chr20_10213830_10312418 | 10260688 | TACACAC | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00558.hp1 others(64): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0025 others(62): Show |
67 | 340 | 0.1971 | -6 | c.-63 others(25): Show |
SNAP25 | ENSG00000132639.15 | transcript | ENST00000254976.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNAP29_chr22_20854007_20896214 | 20874349 | CCACACA | C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00639.hp2 others(39): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005a0001c0002t0006others(14): Show | a0001c0002t0002g0021 a0001c0002t0002g0295 a0001c0002t0002g0296 others(39): Show |
42 | 382 | 0.1100 | -6 | c.434 others(23): Show |
SNAP29 | ENSG00000099940.12 | transcript | ENST00000215730.12 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SNAP29_chr22_20854007_20896214 | 20888311 | TCACACA | T | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02559.hp1 HG02602.hp2 others(6): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0012a0001c0002t0084a0001c0002t0089others(1): Show | a0001c0002t0012g0214 a0001c0002t0012g0218 a0001c0002t0012g0237 others(6): Show |
9 | 382 | 0.0236 | -6 | c.*51 others(15): Show |
SNAP29 | ENSG00000099940.12 | transcript | ENST00000215730.12 | protein_coding | 5/5 | 515 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SNAP29_chr22_20854007_20896214 | 20888351 | ACACACT | A | 3_prime_UTR_variant | MODIFIER | HG00597.hp2 HG01070.hp1 HG01071.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0004a0001c0001t0021a0001c0001t0090others(2): Show | a0001c0001t0004g0011 a0001c0001t0004g0058 a0001c0001t0004g0064 others(19): Show |
22 | 382 | 0.0576 | -6 | c.*51 others(15): Show |
SNAP29 | ENSG00000099940.12 | transcript | ENST00000215730.12 | protein_coding | 5/5 | 517 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SNAP47_chr1_227730435_227786226 | 227736502 | GTTTTTT | G | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00642.hp2 others(25): Show |
a0003a0004a0006 | a0003c0003a0003c0006a0004c0004others(1): Show | a0003c0003t0001a0003c0006t0001a0004c0004t0001others(1): Show | a0003c0003t0001g0147 a0003c0006t0001g0144 a0003c0006t0001g0145 others(18): Show |
28 | 396 | 0.0707 | -6 | c.-46 others(23): Show |
SNAP47 | ENSG00000143740.15 | transcript | ENST00000617596.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNAP47_chr1_227730435_227786226 | 227751744 | GTTTTTT | G | intron_variant | MODIFIER | HG01261.hp1 HG01433.hp2 HG01516.hp1 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(3): Show | a0001c0001t0001g0306 a0001c0001t0001g0321 a0002c0002t0001g0045 others(24): Show |
29 | 396 | 0.0732 | -6 | c.497 others(23): Show |
SNAP47 | ENSG00000143740.15 | transcript | ENST00000617596.5 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNAP91_chr6_83547885_83714101 | 83556340 | GGGGAGA | G | intron_variant | MODIFIER | HG01109.hp1 HG02293.hp2 HG03540.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0122 others(3): Show |
6 | 366 | 0.0164 | -6 | c.263 others(22): Show |
SNAP91 | ENSG00000065609.15 | transcript | ENST00000369694.7 | protein_coding | 28/29 | chr6 | TogoVar | |||||||
SNAP91_chr6_83547885_83714101 | 83568476 | TATAATA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(257): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0033 others(256): Show |
260 | 366 | 0.7104 | -6 | c.244 others(25): Show |
SNAP91 | ENSG00000065609.15 | transcript | ENST00000369694.7 | protein_coding | 26/29 | chr6 | TogoVar | |||||||
SNAP91_chr6_83547885_83714101 | 83610742 | TATATAA | T | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG00673.hp2 others(38): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0064 others(38): Show |
41 | 366 | 0.1120 | -6 | c.885 others(19): Show |
SNAP91 | ENSG00000065609.15 | transcript | ENST00000369694.7 | protein_coding | 11/29 | chr6 | TogoVar | |||||||
SNAP91_chr6_83547885_83714101 | 83614366 | CTAAATA | C | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00673.hp2 others(20): Show |
a0001 | a0001c0001a0001c0003a0001c0013others(2): Show | a0001c0001t0010a0001c0003t0001a0001c0013t0001others(2): Show | a0001c0001t0010g0361 a0001c0003t0001g0034 a0001c0003t0001g0037 others(20): Show |
23 | 366 | 0.0628 | -6 | c.884 others(21): Show |
SNAP91 | ENSG00000065609.15 | transcript | ENST00000369694.7 | protein_coding | 11/29 | chr6 | TogoVar | |||||||
SNAP91_chr6_83547885_83714101 | 83628222 | CATATAT | C | intron_variant | MODIFIER | HG02622.hp2 HG02630.hp2 HG02818.hp2 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0011 | a0001c0004t0001g0116 a0001c0004t0001g0117 a0001c0004t0011g0026 |
3 | 366 | 0.0082 | -6 | c.766 others(23): Show |
SNAP91 | ENSG00000065609.15 | transcript | ENST00000369694.7 | protein_coding | 8/29 | chr6 | TogoVar | |||||||
SNAP91_chr6_83547885_83714101 | 83697324 | GCACACA | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00558.hp2 others(21): Show |
a0001 | a0001c0001a0001c0003a0001c0013others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0013t0001others(2): Show | a0001c0001t0001g0127 a0001c0001t0001g0142 a0001c0001t0001g0143 others(21): Show |
24 | 366 | 0.0656 | -6 | c.130 others(25): Show |
SNAP91 | ENSG00000065609.15 | transcript | ENST00000369694.7 | protein_coding | 2/29 | chr6 | TogoVar | |||||||
SNAPC1_chr14_61757420_61801428 | 61773200 | CTTCTAA | C | intron_variant | MODIFIER | HG00621.hp1 HG01891.hp2 HG02056.hp2 others(18): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0006a0002c0002t0016a0002c0002t0028others(3): Show | a0002c0002t0006g0010 a0002c0002t0006g0069 a0002c0002t0006g0072 others(17): Show |
21 | 356 | 0.0590 | -6 | c.535 others(23): Show |
SNAPC1 | ENSG00000023608.5 | transcript | ENST00000216294.5 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SNAPC1_chr14_61757420_61801428 | 61774648 | ATTTTTT | A | intron_variant | MODIFIER | HG01175.hp1 HG01255.hp2 HG01891.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0021others(1): Show | a0001c0001t0002g0095 a0001c0001t0003g0144 a0001c0001t0003g0164 others(3): Show |
6 | 356 | 0.0169 | -6 | c.535 others(23): Show |
SNAPC1 | ENSG00000023608.5 | transcript | ENST00000216294.5 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |