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 | 246036720 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00733.hp1 others(19): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0050 others(19): Show |
22 | 150 | 0.1467 | 8 | c.532 others(29): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246054873 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00741.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0002g0087 others(21): Show |
24 | 150 | 0.1600 | 8 | c.532 others(29): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246074913 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG04228.hp1 NA18522.hp2 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0002 | a0002c0003t0001g0109 a0002c0003t0002g0114 |
2 | 150 | 0.0133 | 8 | c.532 others(29): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246113184 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01975.hp1 HG02615.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0005 | a0001c0001t0002a0002c0003t0002a0002c0005t0002 | a0001c0001t0002g0040 a0001c0001t0002g0057 a0002c0003t0002g0130 others(1): Show |
4 | 150 | 0.0267 | 8 | c.532 others(29): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246243328 | A | ATATATTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp1 others(50): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(15): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0038 others(50): Show |
53 | 150 | 0.3533 | 8 | c.531 others(27): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246248631 | C | CTTGTTTT others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01981.hp1 HG02451.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0007a0002c0017 | a0001c0001t0001a0002c0007t0001a0002c0007t0004others(1): Show | a0001c0001t0001g0044 a0002c0007t0001g0120 a0002c0007t0001g0124 others(3): Show |
6 | 150 | 0.0400 | 8 | c.531 others(27): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246248808 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG00735.hp1 others(20): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0044 others(20): Show |
23 | 150 | 0.1533 | 8 | c.531 others(27): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246255927 | A | AAGATAGA others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02109.hp2 HG02165.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0002t0001g0065 others(4): Show |
7 | 150 | 0.0467 | 8 | c.531 others(27): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246255927 | A | AAGATGGA others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01952.hp1 HG01981.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0067 others(10): Show |
13 | 150 | 0.0867 | 8 | c.531 others(27): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246255975 | T | TAGACAGA others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01109.hp1 HG02257.hp1 others(2): Show |
a0002 | a0002c0007a0002c0008a0002c0017 | a0002c0007t0001a0002c0008t0001a0002c0017t0001 | a0002c0007t0001g0123 a0002c0007t0001g0124 a0002c0007t0001g0132 others(2): Show |
5 | 150 | 0.0333 | 8 | c.531 others(27): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246255979 | T | TAGACAGA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01081.hp2 HG01109.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0055 a0001c0001t0002g0092 a0001c0002t0001g0079 others(4): Show |
7 | 150 | 0.0467 | 8 | c.531 others(27): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246273135 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02486.hp2 HG02809.hp2 others(3): Show |
a0002 | a0002c0003a0002c0004a0002c0005 | a0002c0003t0001a0002c0003t0002a0002c0004t0001others(1): Show | a0002c0003t0001g0111 a0002c0003t0001g0137 a0002c0003t0001g0148 others(3): Show |
6 | 150 | 0.0400 | 8 | c.531 others(27): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246379081 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02132.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0002c0003t0002 | a0001c0002t0002g0070 a0002c0003t0002g0131 |
2 | 150 | 0.0133 | 8 | c.165 others(27): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246379113 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0014 |
2 | 150 | 0.0133 | 8 | c.165 others(27): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246407840 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01175.hp1 HG02004.hp1 |
a0001a0002 | a0001c0001a0002c0016 | a0001c0001t0001a0001c0001t0002a0002c0016t0001 | a0001c0001t0001g0011 a0001c0001t0002g0045 a0002c0016t0001g0097 |
3 | 150 | 0.0200 | 8 | c.165 others(27): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246509822 | T | TGCGGGGC others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(137): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(22): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(137): Show |
140 | 150 | 0.9333 | 8 | c.-26 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 2544 | chr1 | TogoVar | |||||||
SMYD4_chr17_1774485_1834902 | 1795405 | C | CTCTATCT others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00642.hp1 HG00733.hp1 others(36): Show |
a0001a0004a0005others(3): Show | a0001c0001a0004c0007a0004c0010others(5): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0018others(9): Show | a0001c0001t0001g0081 a0001c0001t0001g0118 a0001c0001t0001g0123 others(36): Show |
39 | 390 | 0.1000 | 8 | c.153 others(27): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 5/10 | chr17 | TogoVar | |||||||
SMYD4_chr17_1774485_1834902 | 1795747 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02109.hp1 HG02109.hp2 others(15): Show |
a0003a0006a0007others(5): Show | a0003c0003a0006c0005a0007c0006others(5): Show | a0003c0003t0004a0006c0005t0005a0006c0005t0006others(6): Show | a0003c0003t0004g0029 a0003c0003t0004g0036 a0003c0003t0004g0045 others(15): Show |
18 | 390 | 0.0462 | 8 | c.153 others(27): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 5/10 | chr17 | TogoVar | |||||||
SNAI1_chr20_49977980_49993886 | 49978472 | C | CATATACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG02074.hp1 NA18953.hp1 others(10): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0004a0001c0001t0008a0007c0008t0004 | a0001c0001t0004g0003 a0001c0001t0004g0010 a0001c0001t0008g0003 others(1): Show |
13 | 440 | 0.0296 | 8 | c.-45 others(19): Show |
SNAI1 | ENSG00000124216.4 | transcript | ENST00000244050.3 | protein_coding | 4507 | chr20 | TogoVar | |||||||
SNAI1_chr20_49977980_49993886 | 49978472 | C | CATATATA others(1): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 HG01099.hp1 HG01168.hp2 others(17): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0006t0003 | a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0006t0003g0031 |
20 | 440 | 0.0455 | 8 | c.-45 others(19): Show |
SNAI1 | ENSG00000124216.4 | transcript | ENST00000244050.3 | protein_coding | 4507 | chr20 | TogoVar | |||||||
SNAI1_chr20_49977980_49993886 | 49991714 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00597.hp1 others(65): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0003g0001 others(4): Show |
68 | 440 | 0.1546 | 8 | c.*36 others(19): Show |
SNAI1 | ENSG00000124216.4 | transcript | ENST00000244050.3 | protein_coding | 2829 | chr20 | TogoVar | |||||||
SNAI3_chr16_88672688_88691507 | 88679775 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(278): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(146): Show |
281 | 400 | 0.7025 | 8 | c.698 others(25): Show |
SNAI3 | ENSG00000185669.6 | transcript | ENST00000332281.6 | protein_coding | 2/2 | chr16 | TogoVar | |||||||
SNAP23_chr15_42490634_42538058 | 42491901 | T | TTTATTTA others(1): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 HG02895.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0006a0001c0002t0008 | a0001c0002t0003g0228 a0001c0002t0006g0216 a0001c0002t0006g0217 others(3): Show |
6 | 308 | 0.0195 | 8 | c.-38 others(19): Show |
SNAP23 | ENSG00000092531.10 | transcript | ENST00000249647.8 | protein_coding | 3732 | chr15 | TogoVar | |||||||
SNAP23_chr15_42490634_42538058 | 42502519 | C | CTAAATAA others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01257.hp1 HG01258.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0005 a0001c0002t0003g0245 a0001c0002t0003g0247 others(4): Show |
11 | 308 | 0.0357 | 8 | c.-15 others(25): Show |
SNAP23 | ENSG00000092531.10 | transcript | ENST00000249647.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SNAP23_chr15_42490634_42538058 | 42525451 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0004 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0020 others(22): Show |
33 | 308 | 0.1071 | 8 | c.267 others(25): Show |
SNAP23 | ENSG00000092531.10 | transcript | ENST00000249647.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SNAP23_chr15_42490634_42538058 | 42537231 | T | TCACACAC others(1): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 HG01257.hp1 HG01258.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003a0001c0002t0006 | a0001c0002t0002g0027 a0001c0002t0002g0207 a0001c0002t0003g0005 others(2): Show |
10 | 308 | 0.0325 | 8 | c.*57 others(19): Show |
SNAP23 | ENSG00000092531.10 | transcript | ENST00000249647.8 | protein_coding | 4174 | chr15 | TogoVar | |||||||
SNAP25_chr20_10213830_10312418 | 10217311 | A | ATGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00621.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0014 a0001c0001t0001g0056 a0001c0001t0001g0059 others(33): Show |
36 | 340 | 0.1059 | 8 | c.-17 others(19): Show |
SNAP25 | ENSG00000132639.15 | transcript | ENST00000254976.7 | protein_coding | 1518 | chr20 | TogoVar | |||||||
SNAP25_chr20_10213830_10312418 | 10236959 | C | CATAAATA others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01074.hp2 HG01346.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0062 a0001c0001t0001g0111 a0001c0001t0001g0117 others(6): Show |
9 | 340 | 0.0265 | 8 | c.-64 others(27): Show |
SNAP25 | ENSG00000132639.15 | transcript | ENST00000254976.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNAP25_chr20_10213830_10312418 | 10275069 | T | TTAAATAA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG01261.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0127 others(32): Show |
36 | 340 | 0.1059 | 8 | c.-63 others(23): Show |
SNAP25 | ENSG00000132639.15 | transcript | ENST00000254976.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNAP25_chr20_10213830_10312418 | 10282162 | T | TGGAAGGA others(1): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03130.hp1 NA18950.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0112 a0001c0001t0002g0133 a0001c0001t0005g0013 others(1): Show |
4 | 340 | 0.0118 | 8 | c.115 others(25): Show |
SNAP25 | ENSG00000132639.15 | transcript | ENST00000254976.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNAP25_chr20_10213830_10312418 | 10308476 | T | TTTAGTAG others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(142): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(140): Show |
145 | 340 | 0.4265 | 8 | c.*22 others(19): Show |
SNAP25 | ENSG00000132639.15 | transcript | ENST00000254976.7 | protein_coding | 1059 | chr20 | TogoVar | |||||||
SNAP29_chr22_20854007_20896214 | 20888311 | T | TCACACAC others(1): Show |
3_prime_UTR_variant | MODIFIER | HG02965.hp1 HG04204.hp2 NA18985.hp2 |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0048a0001c0002t0073a0002c0003t0092 | a0001c0001t0048g0243 a0001c0002t0073g0275 a0002c0003t0092g0339 |
3 | 382 | 0.0079 | 8 | c.*51 others(17): Show |
SNAP29 | ENSG00000099940.12 | transcript | ENST00000215730.12 | protein_coding | 5/5 | 521 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SNAP91_chr6_83547885_83714101 | 83556340 | G | GGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02083.hp1 HG02818.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0002t0002a0001c0003t0001others(2): Show | a0001c0001t0002g0210 a0001c0001t0002g0249 a0001c0001t0002g0254 others(9): Show |
12 | 366 | 0.0328 | 8 | c.263 others(23): Show |
SNAP91 | ENSG00000065609.15 | transcript | ENST00000369694.7 | protein_coding | 28/29 | chr6 | TogoVar | |||||||
SNAP91_chr6_83547885_83714101 | 83556344 | A | AGGGAGAG others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG03017.hp2 HG03834.hp2 others(2): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0003a0001c0010t0001 | a0001c0001t0001g0033 a0001c0001t0001g0280 a0001c0001t0001g0281 others(2): Show |
5 | 366 | 0.0137 | 8 | c.263 others(24): Show |
SNAP91 | ENSG00000065609.15 | transcript | ENST00000369694.7 | protein_coding | 28/29 | chr6 | TogoVar | |||||||
SNAP91_chr6_83547885_83714101 | 83607329 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02129.hp2 HG02258.hp1 others(12): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0032 a0001c0001t0001g0056 a0001c0001t0001g0086 others(12): Show |
15 | 366 | 0.0410 | 8 | c.102 others(25): Show |
SNAP91 | ENSG00000065609.15 | transcript | ENST00000369694.7 | protein_coding | 13/29 | chr6 | TogoVar | |||||||
SNAP91_chr6_83547885_83714101 | 83610710 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01256.hp1 HG01258.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0008 | a0001c0001t0001a0001c0004t0001a0003c0008t0001 | a0001c0001t0001g0070 a0001c0001t0001g0158 a0001c0004t0001g0028 others(4): Show |
7 | 366 | 0.0191 | 8 | c.885 others(21): Show |
SNAP91 | ENSG00000065609.15 | transcript | ENST00000369694.7 | protein_coding | 11/29 | chr6 | TogoVar | |||||||
SNAP91_chr6_83547885_83714101 | 83628222 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG01256.hp1 others(11): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0053 others(11): Show |
14 | 366 | 0.0383 | 8 | c.766 others(25): Show |
SNAP91 | ENSG00000065609.15 | transcript | ENST00000369694.7 | protein_coding | 8/29 | chr6 | TogoVar | |||||||
SNAP91_chr6_83547885_83714101 | 83675827 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG01516.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 others(23): Show |
26 | 366 | 0.0710 | 8 | c.131 others(27): Show |
SNAP91 | ENSG00000065609.15 | transcript | ENST00000369694.7 | protein_coding | 2/29 | chr6 | TogoVar | |||||||
SNAP91_chr6_83547885_83714101 | 83697324 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02056.hp2 HG02132.hp2 others(11): Show |
a0001a0007 | a0001c0002a0001c0004a0007c0023 | a0001c0002t0001a0001c0004t0001a0007c0023t0001 | a0001c0002t0001g0223 a0001c0002t0001g0233 a0001c0002t0001g0240 others(11): Show |
14 | 366 | 0.0383 | 8 | c.130 others(27): Show |
SNAP91 | ENSG00000065609.15 | transcript | ENST00000369694.7 | protein_coding | 2/29 | chr6 | TogoVar | |||||||
SNAP91_chr6_83547885_83714101 | 83707536 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02486.hp1 HG02698.hp2 others(5): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0016 | a0001c0001t0001a0001c0003t0001a0005c0016t0001 | a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 others(5): Show |
8 | 366 | 0.0219 | 8 | c.130 others(23): Show |
SNAP91 | ENSG00000065609.15 | transcript | ENST00000369694.7 | protein_coding | 2/29 | chr6 | TogoVar | |||||||
SNAPC1_chr14_61757420_61801428 | 61762981 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01169.hp2 HG01257.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0002g0012 a0001c0001t0002g0113 a0001c0001t0002g0114 others(19): Show |
25 | 356 | 0.0702 | 8 | c.128 others(23): Show |
SNAPC1 | ENSG00000023608.5 | transcript | ENST00000216294.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SNCAIP_chr5_122307237_122469219 | 122326938 | C | CTATGTAT others(1): Show |
intron_variant | MODIFIER | HG01515.hp1 HG02080.hp2 HG02257.hp2 others(7): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0029 a0001c0001t0001g0049 a0001c0001t0001g0158 others(7): Show |
10 | 222 | 0.0451 | 8 | c.-47 others(27): Show |
SNCAIP | ENSG00000064692.20 | transcript | ENST00000261368.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SNCAIP_chr5_122307237_122469219 | 122359349 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01106.hp2 HG01433.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(17): Show |
20 | 222 | 0.0901 | 8 | c.-46 others(27): Show |
SNCAIP | ENSG00000064692.20 | transcript | ENST00000261368.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SNCA_chr4_89719099_89842161 | 89747236 | G | GCGCACAC others(1): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02818.hp2 HG03195.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 a0001c0001t0001g0207 a0001c0001t0001g0209 others(3): Show |
6 | 338 | 0.0178 | 8 | c.307 others(27): Show |
SNCA | ENSG00000145335.17 | transcript | ENST00000394991.8 | protein_coding | 4/5 | chr4 | TogoVar | |||||||
SNCA_chr4_89719099_89842161 | 89749939 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01928.hp2 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0034 | a0001c0001t0001g0089 a0001c0001t0003g0107 a0001c0001t0034g0322 |
3 | 338 | 0.0089 | 8 | c.307 others(27): Show |
SNCA | ENSG00000145335.17 | transcript | ENST00000394991.8 | protein_coding | 4/5 | chr4 | TogoVar | |||||||
SNCA_chr4_89719099_89842161 | 89759478 | A | ATGCATAT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(142): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0254 a0001c0001t0002g0001 a0001c0001t0002g0002 others(133): Show |
145 | 338 | 0.4290 | 8 | c.307 others(27): Show |
SNCA | ENSG00000145335.17 | transcript | ENST00000394991.8 | protein_coding | 4/5 | chr4 | TogoVar | |||||||
SNCA_chr4_89719099_89842161 | 89823786 | C | CTTATTTA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG01192.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0003g0012 a0001c0001t0004g0013 a0001c0001t0004g0296 others(11): Show |
16 | 338 | 0.0473 | 8 | c.164 others(25): Show |
SNCA | ENSG00000145335.17 | transcript | ENST00000394991.8 | protein_coding | 3/5 | chr4 | TogoVar | |||||||
SND1_chr7_127647194_128097593 | 127707766 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02523.hp1 HG02698.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 a0001c0001t0001g0133 a0001c0001t0001g0142 others(3): Show |
6 | 262 | 0.0229 | 8 | c.103 others(25): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 9/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SND1_chr7_127647194_128097593 | 127759057 | A | AATAGATA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(109): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(109): Show |
112 | 262 | 0.4275 | 8 | c.115 others(29): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SND1_chr7_127647194_128097593 | 127766771 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01168.hp1 HG01169.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0061 a0001c0001t0001g0122 a0001c0001t0001g0123 others(25): Show |
28 | 262 | 0.1069 | 8 | c.115 others(29): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |