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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMS_chrX_21935709_21999837 | 21960713 | AAGGCTCT others(1): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0132 | 1 | 298 | 0.0034 | -8 | c.50- others(23): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 1/10 | chrX | TogoVar | |||||||
SMS_chrX_21935709_21999837 | 21967056 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0088 a0001c0001t0002g0160 a0001c0001t0002g0161 |
3 | 298 | 0.0101 | -8 | c.50- others(21): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SMS_chrX_21935709_21999837 | 21967085 | TTTATTTA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp1 others(76): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(76): Show |
79 | 298 | 0.2651 | -8 | c.50- others(20): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SMTNL1_chr11_57532595_57555272 | 57551416 | TTAAATAA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00642.hp1 HG01256.hp2 others(20): Show |
a0001a0009a0014 | a0001c0003a0009c0017a0014c0016 | a0001c0003t0002a0001c0003t0004a0001c0003t0005others(3): Show | a0001c0003t0002g0003 a0001c0003t0002g0015 a0001c0003t0002g0019 others(10): Show |
23 | 366 | 0.0628 | -8 | c.*13 others(19): Show |
SMTNL1 | ENSG00000214872.9 | transcript | ENST00000527972.6 | protein_coding | 1145 | chr11 | TogoVar | |||||||
SMTNL2_chr17_4579529_4613319 | 4581337 | CGTGTGTG others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp2 HG03225.hp2 NA18939.hp2 others(1): Show |
a0001a0002 | a0001c0003a0001c0017a0002c0001 | a0001c0003t0001a0001c0017t0009a0002c0001t0001others(1): Show | a0001c0003t0001g0163 a0001c0017t0009g0241 a0002c0001t0001g0334 others(1): Show |
4 | 442 | 0.0091 | -8 | c.-32 others(19): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 3191 | chr17 | TogoVar | |||||||
SMTNL2_chr17_4579529_4613319 | 4581375 | TGTGTGTG others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02109.hp2 HG02970.hp2 others(1): Show |
a0001a0003a0009 | a0001c0005a0001c0022a0003c0016others(1): Show | a0001c0005t0001a0001c0022t0001a0003c0016t0001others(1): Show | a0001c0005t0001g0003 a0001c0022t0001g0157 a0003c0016t0001g0152 others(1): Show |
4 | 442 | 0.0091 | -8 | c.-32 others(19): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 3153 | chr17 | TogoVar | |||||||
SMTNL2_chr17_4579529_4613319 | 4589938 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01123.hp1 HG01243.hp1 others(4): Show |
a0001a0002a0007 | a0001c0002a0001c0006a0001c0017others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0006t0003others(3): Show | a0001c0002t0001g0254 a0001c0002t0002g0219 a0001c0002t0002g0220 others(4): Show |
7 | 442 | 0.0158 | -8 | c.400 others(25): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SMTN_chr22_31076318_31109624 | 31097715 | GATAAATA others(1): Show |
G | intron_variant | MODIFIER | HG01255.hp2 HG01516.hp1 HG02886.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0145 a0002c0002t0003g0157 a0002c0002t0003g0166 |
3 | 362 | 0.0083 | -8 | c.215 others(25): Show |
SMTN | ENSG00000183963.19 | transcript | ENST00000333137.12 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SMUG1_chr12_54175366_54193985 | 54185485 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01496.hp1 HG01928.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 a0001c0001t0002g0073 a0001c0001t0002g0121 others(1): Show |
8 | 438 | 0.0183 | -8 | c.-19 others(25): Show |
SMUG1 | ENSG00000123415.16 | transcript | ENST00000682136.1 | protein_coding | 2/3 | chr12 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99063237 | TTATTTAT others(1): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02895.hp1 HG02896.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0001t0011a0001c0003t0019 | a0001c0001t0006g0121 a0001c0001t0011g0170 a0001c0001t0011g0171 others(2): Show |
5 | 264 | 0.0189 | -8 | c.56- others(23): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99063241 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG01081.hp2 HG01175.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0180 others(14): Show |
17 | 264 | 0.0644 | -8 | c.56- others(23): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99101492 | ATACCCTA others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02258.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0018a0001c0001t0028others(2): Show | a0001c0001t0006g0045 a0001c0001t0006g0100 a0001c0001t0006g0121 others(11): Show |
14 | 264 | 0.0530 | -8 | c.56- others(25): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99119003 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG01884.hp1 others(28): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0047 a0001c0001t0001g0098 a0001c0001t0001g0124 others(28): Show |
31 | 264 | 0.1174 | -8 | c.55+ others(25): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99125057 | TTTCATTC others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01081.hp1 HG01167.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0014others(1): Show | a0001c0001t0003g0122 a0001c0001t0010g0001 a0001c0001t0010g0250 others(5): Show |
9 | 264 | 0.0341 | -8 | c.55+ others(25): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99146711 | TAAAAAAA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02723.hp2 HG02809.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0016a0001c0004t0017 | a0001c0001t0003g0012 a0001c0001t0003g0140 a0001c0001t0003g0145 others(4): Show |
7 | 264 | 0.0265 | -8 | c.-29 others(19): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 2604 | chr7 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64540759 | GTATATAT others(1): Show |
G | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02572.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0023a0001c0001t0042a0001c0001t0047others(2): Show | a0001c0001t0023g0154 a0001c0001t0042g0031 a0001c0001t0047g0155 others(8): Show |
11 | 174 | 0.0632 | -8 | c.*50 others(19): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 1522 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64605744 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0042a0001c0001t0052 | a0001c0001t0021g0032 a0001c0001t0021g0033 a0001c0001t0042g0031 others(1): Show |
4 | 174 | 0.0230 | -8 | c.91+ others(21): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 2/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64607996 | CATAAATA others(1): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0028 | a0001c0001t0007g0070 a0001c0001t0028g0002 |
2 | 174 | 0.0115 | -8 | c.53- others(23): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64613673 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG01106.hp1 HG01192.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0002g0046 others(5): Show |
8 | 174 | 0.0460 | -8 | c.53- others(23): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64648058 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG01346.hp1 HG02109.hp2 HG02572.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0023a0001c0001t0029a0001c0001t0043others(3): Show | a0001c0001t0023g0154 a0001c0001t0029g0022 a0001c0001t0043g0144 others(4): Show |
7 | 174 | 0.0402 | -8 | c.52+ others(25): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SMYD1_chr2_88062825_88118384 | 88065272 | TCCCCCCC others(1): Show |
T | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02615.hp1 others(12): Show |
a0001a0005 | a0001c0003a0001c0004a0001c0008others(1): Show | a0001c0003t0001a0001c0003t0004a0001c0004t0001others(4): Show | a0001c0003t0001g0301 a0001c0003t0004g0300 a0001c0004t0001g0025 others(11): Show |
15 | 338 | 0.0444 | -8 | c.-25 others(19): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 2552 | chr2 | TogoVar | |||||||
SMYD1_chr2_88062825_88118384 | 88066942 | ATTATTTA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(279): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0298 a0001c0001t0002g0002 a0001c0001t0002g0004 others(257): Show |
282 | 338 | 0.8343 | -8 | c.-92 others(17): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 882 | chr2 | TogoVar | |||||||
SMYD2_chr1_214276159_214342131 | 214293011 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(54): Show |
a0001a0003a0005others(2): Show | a0001c0001a0003c0003a0005c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(3): Show | a0001c0001t0001g0011 a0001c0001t0001g0103 a0001c0001t0001g0225 others(53): Show |
57 | 380 | 0.1500 | -8 | c.173 others(27): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245779654 | TACTTATC others(1): Show |
T | intron_variant | MODIFIER | HG02965.hp2 HG03471.hp1 |
a0001a0002 | a0001c0006a0002c0003 | a0001c0006t0001a0002c0003t0001 | a0001c0006t0001g0035 a0002c0003t0001g0112 |
2 | 150 | 0.0133 | -8 | c.107 others(29): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245791952 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02970.hp1 others(2): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0002c0003others(2): Show | a0001c0001t0002a0001c0006t0003a0002c0003t0002others(2): Show | a0001c0001t0002g0023 a0001c0006t0003g0001 a0002c0003t0002g0116 others(2): Show |
5 | 150 | 0.0333 | -8 | c.107 others(29): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245797426 | ACAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01081.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(13): Show | a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0002g0017 others(26): Show |
29 | 150 | 0.1933 | -8 | c.107 others(29): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245843540 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00621.hp1 others(39): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0011others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(9): Show | a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0047 others(39): Show |
42 | 150 | 0.2800 | -8 | c.107 others(29): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245993579 | AAGATAGA others(1): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01975.hp2 HG02257.hp2 others(3): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0002c0003t0002a0002c0004t0001 | a0001c0002t0001g0016 a0002c0003t0002g0102 a0002c0003t0002g0143 others(3): Show |
6 | 150 | 0.0400 | -8 | c.532 others(27): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245993627 | TAGATAGA others(1): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02922.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0001 | a0001c0001t0002g0017 a0002c0004t0001g0127 |
2 | 150 | 0.0133 | -8 | c.532 others(27): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245993631 | TAGACAGA others(1): Show |
T | intron_variant | MODIFIER | NA18965.hp1 NA19030.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0002 | a0001c0001t0002g0071 a0002c0004t0002g0139 |
2 | 150 | 0.0133 | -8 | c.532 others(27): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246114905 | CAGGCGTG others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00621.hp1 others(39): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0019 a0001c0001t0001g0034 a0001c0001t0001g0036 others(39): Show |
42 | 150 | 0.2800 | -8 | c.532 others(29): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246116139 | TAAAAAAG others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG00738.hp1 others(28): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(12): Show | a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0001g0093 others(28): Show |
31 | 150 | 0.2067 | -8 | c.532 others(29): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246116201 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG00735.hp1 HG00738.hp2 others(28): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0019 a0001c0001t0001g0034 a0001c0001t0001g0036 others(28): Show |
31 | 150 | 0.2067 | -8 | c.532 others(29): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246119409 | CTTTCTTT others(1): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG01109.hp1 HG01243.hp1 others(5): Show |
a0002 | a0002c0007a0002c0008a0002c0017 | a0002c0007t0001a0002c0007t0004a0002c0008t0001others(2): Show | a0002c0007t0001g0123 a0002c0007t0001g0124 a0002c0007t0001g0132 others(5): Show |
8 | 150 | 0.0533 | -8 | c.532 others(29): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246143126 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG00741.hp1 others(26): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(10): Show | a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0055 others(26): Show |
29 | 150 | 0.1933 | -8 | c.531 others(29): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246143158 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG02015.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0063 others(8): Show |
11 | 150 | 0.0733 | -8 | c.531 others(29): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246227956 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(51): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(15): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0038 others(51): Show |
54 | 150 | 0.3600 | -8 | c.531 others(27): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246255927 | AAGATAGA others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG01934.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0005 a0001c0001t0001g0089 a0001c0001t0002g0004 others(13): Show |
16 | 150 | 0.1067 | -8 | c.531 others(27): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246288062 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG00738.hp2 others(12): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0059 others(12): Show |
15 | 150 | 0.1000 | -8 | c.531 others(27): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246352136 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02809.hp1 HG02886.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004others(1): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0002others(4): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0002c0003t0001g0096 others(8): Show |
11 | 150 | 0.0733 | -8 | c.228 others(25): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 2/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246391420 | AAGAGAGA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG00738.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0036 a0001c0001t0001g0046 others(12): Show |
15 | 150 | 0.1000 | -8 | c.165 others(27): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246475329 | GAAAAAAA others(1): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG01496.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004others(3): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0002others(6): Show | a0001c0001t0001g0018 a0002c0003t0001g0096 a0002c0003t0001g0099 others(22): Show |
25 | 150 | 0.1667 | -8 | c.164 others(27): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246481607 | TACACATA others(1): Show |
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 | -8 | c.164 others(27): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SMYD4_chr17_1774485_1834902 | 1795405 | CTCTATCT others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG01975.hp1 HG02080.hp1 others(8): Show |
a0001a0003a0005others(3): Show | a0001c0001a0003c0003a0005c0004others(3): Show | a0001c0001t0001a0003c0003t0004a0005c0004t0003others(3): Show | a0001c0001t0001g0177 a0003c0003t0004g0075 a0003c0003t0004g0077 others(8): Show |
11 | 390 | 0.0282 | -8 | c.153 others(27): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 5/10 | chr17 | TogoVar | |||||||
SMYD4_chr17_1774485_1834902 | 1833786 | AGAGGTTC others(1): Show |
A | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02258.hp1 |
a0005a0007 | a0005c0004a0007c0006 | a0005c0004t0003a0007c0006t0005 | a0005c0004t0003g0203 a0007c0006t0005g0138 a0007c0006t0005g0140 |
3 | 390 | 0.0077 | -8 | c.-40 others(19): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 3885 | chr17 | TogoVar | |||||||
SNAI1_chr20_49977980_49993886 | 49978472 | CATATATA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01261.hp1 HG02622.hp1 HG02886.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0001c0001t0019a0003c0003t0007 | a0001c0001t0003g0001 a0001c0001t0019g0001 a0003c0003t0007g0005 |
7 | 440 | 0.0159 | -8 | c.-45 others(19): Show |
SNAI1 | ENSG00000124216.4 | transcript | ENST00000244050.3 | protein_coding | 4507 | chr20 | TogoVar | |||||||
SNAI1_chr20_49977980_49993886 | 49981637 | TTTATAGT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG00738.hp1 others(76): Show |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0002a0002c0002t0007a0002c0002t0014others(3): Show | a0002c0002t0002g0002 a0002c0002t0002g0011 a0002c0002t0002g0022 others(6): Show |
79 | 440 | 0.1796 | -8 | c.-14 others(19): Show |
SNAI1 | ENSG00000124216.4 | transcript | ENST00000244050.3 | protein_coding | 1342 | chr20 | TogoVar | |||||||
SNAP25_chr20_10213830_10312418 | 10217311 | ATGTGTGT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01074.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0120 a0001c0001t0003g0270 a0001c0001t0004g0334 |
3 | 340 | 0.0088 | -8 | c.-17 others(19): Show |
SNAP25 | ENSG00000132639.15 | transcript | ENST00000254976.7 | protein_coding | 1518 | chr20 | TogoVar | |||||||
SNAP25_chr20_10213830_10312418 | 10260688 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(1): Show | a0001c0001t0001g0012 a0001c0001t0001g0039 a0001c0001t0001g0272 others(4): Show |
7 | 340 | 0.0206 | -8 | c.-63 others(27): Show |
SNAP25 | ENSG00000132639.15 | transcript | ENST00000254976.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNAP25_chr20_10213830_10312418 | 10275069 | TTAAATAA others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01070.hp2 HG01074.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0073 others(26): Show |
29 | 340 | 0.0853 | -8 | c.-63 others(23): Show |
SNAP25 | ENSG00000132639.15 | transcript | ENST00000254976.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |