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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SRD5A3_chr4_55341242_55378100 | 55368396 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(93): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0011others(15): Show | a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0031 others(82): Show |
96 | 384 | 0.2500 | -8 | c.697 others(23): Show |
SRD5A3 | ENSG00000128039.13 | transcript | ENST00000264228.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SRD5A3_chr4_55341242_55378100 | 55370400 | TAACCGAA others(1): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(99): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0011others(12): Show | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 others(87): Show |
102 | 384 | 0.2656 | -8 | c.*31 others(17): Show |
SRD5A3 | ENSG00000128039.13 | transcript | ENST00000264228.9 | protein_coding | 5/5 | 319 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SRD5A3_chr4_55341242_55378100 | 55370431 | TCACACAC others(1): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02572.hp1 NA19030.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0042a0001c0001t0073a0001c0001t0074 | a0001c0001t0042g0081 a0001c0001t0073g0071 a0001c0001t0074g0083 |
3 | 384 | 0.0078 | -8 | c.*37 others(17): Show |
SRD5A3 | ENSG00000128039.13 | transcript | ENST00000264228.9 | protein_coding | 5/5 | 375 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SREBF1_chr17_17806334_17841986 | 17808406 | TTTATTTT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp1 HG01884.hp2 HG02258.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0027others(1): Show | a0001c0001t0001g0217 a0001c0001t0004g0180 a0001c0001t0004g0186 others(9): Show |
12 | 352 | 0.0341 | -8 | c.*42 others(19): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 2927 | chr17 | TogoVar | |||||||
SREBF1_chr17_17806334_17841986 | 17809826 | GCCGACGG others(1): Show |
G | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01099.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0193 |
3 | 352 | 0.0085 | -8 | c.*27 others(19): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 1507 | chr17 | TogoVar | |||||||
SREBF1_chr17_17806334_17841986 | 17829205 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(60): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0010a0002c0003others(3): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(11): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0009 others(48): Show |
63 | 352 | 0.1790 | -8 | c.91+ others(23): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SREBF1_chr17_17806334_17841986 | 17833420 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01123.hp2 HG01168.hp1 others(6): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0001t0007a0001c0010t0002 | a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0035 others(6): Show |
9 | 352 | 0.0256 | -8 | c.91+ others(23): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SREBF2_chr22_41828105_41912305 | 41852728 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02572.hp2 HG02630.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(1): Show | a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0002g0047 others(3): Show |
6 | 336 | 0.0179 | -8 | c.89- others(25): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SREBF2_chr22_41828105_41912305 | 41864255 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG03017.hp2 HG03225.hp1 NA18522.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0008 | a0002c0002t0002g0085 a0002c0002t0002g0163 a0002c0002t0003g0330 others(2): Show |
5 | 336 | 0.0149 | -8 | c.89- others(23): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SREBF2_chr22_41828105_41912305 | 41864257 | TATATACA others(1): Show |
T | intron_variant | MODIFIER | HG00673.hp1 HG02559.hp1 NA18994.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0006 | a0002c0002t0001g0030 a0002c0002t0001g0033 a0002c0002t0006g0048 |
3 | 336 | 0.0089 | -8 | c.89- others(23): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SRFBP1_chr5_121956975_122033633 | 121961698 | AACACACA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG02258.hp1 NA20129.hp1 |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0007a0006c0009t0001 | a0001c0001t0007g0203 a0006c0009t0001g0049 |
2 | 228 | 0.0088 | -8 | c.-33 others(17): Show |
SRFBP1 | ENSG00000151304.6 | transcript | ENST00000339397.5 | protein_coding | 276 | chr5 | TogoVar | |||||||
SRF_chr6_43166269_43186506 | 43183697 | CCTTCCTT others(1): Show |
C | downstream_gene_variant | MODIFIER | NA18747.hp2 NA18945.hp2 NA18992.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0033 |
3 | 356 | 0.0084 | -8 | c.*45 others(19): Show |
SRF | ENSG00000112658.8 | transcript | ENST00000265354.6 | protein_coding | 2192 | chr6 | TogoVar | |||||||
SRGAP1_chr12_63839700_64167217 | 63856252 | CTAAATAA others(1): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01257.hp1 HG01261.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0079a0001c0001t0094a0001c0001t0096others(10): Show | a0001c0001t0079g0057 a0001c0001t0094g0052 a0001c0001t0096g0064 others(10): Show |
13 | 170 | 0.0765 | -8 | c.67+ others(25): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 63868071 | TTTTTTTT others(1): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG03516.hp2 HG03834.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0143a0001c0001t0146a0001c0002t0002others(2): Show | a0001c0001t0143g0007 a0001c0001t0146g0013 a0001c0002t0002g0008 others(2): Show |
5 | 170 | 0.0294 | -8 | c.67+ others(25): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 63958069 | AGAGATAC others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01069.hp2 others(85): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0006a0001c0001t0007a0001c0001t0010others(79): Show | a0001c0001t0006g0112 a0001c0001t0007g0039 a0001c0001t0007g0077 others(85): Show |
88 | 170 | 0.5177 | -8 | c.68- others(25): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 63983797 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG03540.hp2 NA18946.hp2 NA18948.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0077a0001c0001t0106a0001c0001t0108others(3): Show | a0001c0001t0077g0080 a0001c0001t0106g0067 a0001c0001t0108g0001 others(3): Show |
6 | 170 | 0.0353 | -8 | c.68- others(19): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 63992660 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG02698.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0010a0001c0001t0108a0001c0001t0123others(6): Show | a0001c0001t0010g0157 a0001c0001t0108g0001 a0001c0001t0123g0073 others(6): Show |
9 | 170 | 0.0529 | -8 | c.426 others(25): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64092461 | CATACATA others(1): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG02809.hp2 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0140a0001c0001t0141a0001c0001t0142others(2): Show | a0001c0001t0140g0092 a0001c0001t0141g0012 a0001c0001t0142g0003 others(2): Show |
5 | 170 | 0.0294 | -8 | c.153 others(27): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64101308 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02559.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0134a0001c0001t0144a0001c0001t0145others(4): Show | a0001c0001t0134g0119 a0001c0001t0144g0004 a0001c0001t0145g0005 others(4): Show |
7 | 170 | 0.0412 | -8 | c.181 others(27): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64123643 | GATTTATT others(1): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02257.hp2 HG02647.hp2 others(10): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0072a0001c0001t0086a0001c0001t0141others(10): Show | a0001c0001t0072g0011 a0001c0001t0086g0102 a0001c0001t0141g0012 others(10): Show |
13 | 170 | 0.0765 | -8 | c.222 others(27): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP2B_chr1_144882288_145100328 | 144925727 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG01952.hp1 HG02071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0036 a0001c0001t0003g0022 |
2 | 56 | 0.0357 | -8 | c.424 others(27): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | TogoVar | |||||||
SRGAP2B_chr1_144882288_145100328 | 144928404 | GTTATTTA others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00673.hp1 HG00735.hp1 others(13): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(6): Show | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0026 others(13): Show |
16 | 56 | 0.2857 | -8 | c.424 others(27): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | TogoVar | |||||||
SRGAP2B_chr1_144882288_145100328 | 144944683 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG01258.hp2 HG02129.hp2 HG02135.hp1 others(2): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0002a0005c0008t0005 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0008 others(2): Show |
5 | 56 | 0.0893 | -8 | c.423 others(27): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | TogoVar | |||||||
SRGAP2B_chr1_144882288_145100328 | 144994567 | TGAGAGAG others(1): Show |
T | intron_variant | MODIFIER | HG01952.hp2 HG02071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0036 |
2 | 56 | 0.0357 | -8 | c.260 others(23): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | TogoVar | |||||||
SRGAP2B_chr1_144882288_145100328 | 145030721 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG02129.hp1 HG03831.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0034 others(1): Show |
4 | 56 | 0.0714 | -8 | c.68- others(25): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
SRGAP2B_chr1_144882288_145100328 | 145044650 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG01346.hp1 HG01952.hp2 HG02015.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0015a0002c0002t0001others(1): Show | a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0015g0010 others(2): Show |
5 | 56 | 0.0893 | -8 | c.67+ others(25): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
SRGAP2B_chr1_144882288_145100328 | 145068893 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG02015.hp1 HG03831.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0002g0002 others(3): Show |
6 | 56 | 0.1071 | -8 | c.67+ others(25): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
SRGAP2C_chr1_121179975_121397874 | 121223351 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(131): Show |
a0001a0005a0008 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(22): Show | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 others(131): Show |
134 | 274 | 0.4891 | -8 | c.67+ others(25): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121239178 | CTATATAT others(1): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01516.hp1 HG01517.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0021 others(7): Show |
10 | 274 | 0.0365 | -8 | c.68- others(25): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121261094 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02280.hp2 others(10): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0019a0001c0003t0053others(1): Show | a0001c0003t0004g0258 a0001c0003t0004g0260 a0001c0003t0004g0261 others(10): Show |
13 | 274 | 0.0475 | -8 | c.68- others(25): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121335340 | CAAAAAAT others(1): Show |
C | intron_variant | MODIFIER | HG02818.hp1 HG02976.hp1 HG03195.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0001g0107 a0001c0001t0001g0176 a0001c0001t0001g0178 others(5): Show |
8 | 274 | 0.0292 | -8 | c.423 others(27): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121354261 | CCTTTCTT others(1): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02071.hp1 HG02451.hp1 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0009others(2): Show | a0002c0002t0002g0021 a0002c0002t0002g0084 a0002c0002t0002g0088 others(8): Show |
11 | 274 | 0.0402 | -8 | c.424 others(27): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121372898 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02738.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0045a0001c0005t0054 | a0001c0001t0001g0169 a0001c0001t0001g0216 a0001c0001t0045g0217 others(1): Show |
4 | 274 | 0.0146 | -8 | c.487 others(25): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
SRGAP2_chr1_206198541_206469436 | 206241911 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG02109.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0017 | a0001c0001t0001g0002 a0001c0003t0017g0003 |
2 | 182 | 0.0110 | -8 | c.67+ others(25): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2_chr1_206198541_206469436 | 206303869 | GTCTCTCT others(1): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02109.hp1 others(3): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0005a0001c0003t0032a0001c0006t0009others(1): Show | a0001c0003t0005g0164 a0001c0003t0032g0165 a0001c0006t0009g0001 others(3): Show |
6 | 182 | 0.0330 | -8 | c.260 others(23): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2_chr1_206198541_206469436 | 206303884 | TCTCTCAC others(1): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG01167.hp1 HG01884.hp1 others(14): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0004others(3): Show | a0001c0001t0001g0096 a0001c0001t0001g0145 a0001c0001t0001g0167 others(14): Show |
17 | 182 | 0.0934 | -8 | c.260 others(23): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2_chr1_206198541_206469436 | 206370266 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01257.hp2 HG02145.hp2 HG02257.hp1 others(3): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0013a0001c0005t0001 | a0001c0002t0013g0142 a0001c0005t0001g0006 a0001c0005t0001g0116 others(3): Show |
6 | 182 | 0.0330 | -8 | c.424 others(27): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2_chr1_206198541_206469436 | 206389165 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG00738.hp2 others(36): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0002t0004a0001c0002t0005others(7): Show | a0001c0002t0002g0025 a0001c0002t0002g0068 a0001c0002t0004g0070 others(36): Show |
39 | 182 | 0.2143 | -8 | c.487 others(25): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2_chr1_206198541_206469436 | 206418888 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG02630.hp1 HG02922.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0003t0004others(1): Show | a0001c0001t0001g0053 a0001c0001t0001g0145 a0001c0001t0001g0167 others(7): Show |
10 | 182 | 0.0550 | -8 | c.144 others(25): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP3_chr3_8975591_9254646 | 9030153 | AAATGAAT others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(33): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0021 a0001c0001t0001g0058 a0001c0001t0001g0062 others(33): Show |
36 | 228 | 0.1579 | -8 | c.153 others(27): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 12/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9055885 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG02717.hp2 HG03041.hp2 HG03453.hp1 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0004a0001c0002t0007a0001c0009t0012 | a0001c0002t0004g0037 a0001c0002t0007g0075 a0001c0009t0012g0068 |
3 | 228 | 0.0132 | -8 | c.112 others(25): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 8/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9064861 | TAATAAAT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG01069.hp2 others(31): Show |
a0001a0007 | a0001c0001a0001c0006a0001c0017others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0024 a0001c0001t0001g0045 a0001c0001t0001g0046 others(31): Show |
34 | 228 | 0.1491 | -8 | c.487 others(23): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 4/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9071640 | GTGGATGG others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp2 others(36): Show |
a0001 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 others(36): Show |
39 | 228 | 0.1711 | -8 | c.487 others(25): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 4/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9096937 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01074.hp1 HG01109.hp1 others(13): Show |
a0001 | a0001c0001a0001c0004a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0025 a0001c0001t0001g0045 a0001c0001t0001g0062 others(13): Show |
16 | 228 | 0.0702 | -8 | c.423 others(25): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 3/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9096974 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0090 a0001c0001t0002g0056 |
2 | 228 | 0.0088 | -8 | c.423 others(25): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 3/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9126618 | AAACTAAC others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(59): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0025 others(59): Show |
62 | 228 | 0.2719 | -8 | c.68- others(23): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 1/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9126641 | CTAACTAA others(1): Show |
C | intron_variant | MODIFIER | HG02965.hp2 HG03453.hp1 NA18975.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0001t0004a0001c0009t0012 | a0001c0001t0002g0109 a0001c0001t0004g0077 a0001c0009t0012g0068 |
3 | 228 | 0.0132 | -8 | c.68- others(23): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 1/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9126645 | CTAAATAA others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp2 others(13): Show |
a0001a0003a0004 | a0001c0001a0003c0008a0004c0016 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0058 others(13): Show |
16 | 228 | 0.0702 | -8 | c.68- others(23): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 1/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9141553 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02683.hp2 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007 | a0001c0001t0002g0026 a0001c0001t0002g0155 a0001c0001t0005g0080 others(1): Show |
4 | 228 | 0.0175 | -8 | c.68- others(25): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 1/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9183767 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02622.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0023others(4): Show | a0001c0001t0002g0016 a0001c0001t0004g0077 a0001c0001t0004g0120 others(5): Show |
8 | 228 | 0.0351 | -8 | c.68- others(25): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 1/21 | chr3 | TogoVar |