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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SRGAP1_chr12_63839700_64167217 | 63868075 | TTTTGTTT others(11): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0143a0001c0001t0144 | a0001c0001t0143g0004 a0001c0001t0144g0006 |
2 | 151 | 0.0132 | -18 | c.67+ others(35): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 63983797 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01496.hp1 HG02257.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0092a0001c0001t0095a0001c0001t0128others(7): Show | a0001c0001t0092g0033 a0001c0001t0095g0064 a0001c0001t0128g0133 others(8): Show |
11 | 31 | 0.3548 | -18 | c.68- others(30): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 63992660 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02895.hp1 | a0003 | a0003c0005 | a0003c0005t0137 | a0003c0005t0137g0047 | 1 | 12 | 0.0833 | -18 | c.426 others(35): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP2B_chr1_144882288_145100328 | 144882605 | GCGGCGGG others(11): Show |
G | downstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 54 | 0.0185 | -18 | c.*95 others(29): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4682 | chr1 | TogoVar | |||||||
SRGAP2B_chr1_144882288_145100328 | 144882872 | GGGGGGAA others(11): Show |
G | downstream_gene_variant | MODIFIER | HG02615.hp2 | a0007 | a0007c0007 | a0007c0007t0018 | a0007c0007t0018g0001 | 1 | 52 | 0.0192 | -18 | c.*92 others(29): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4415 | chr1 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9096937 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0006 | 1 | 67 | 0.0149 | -18 | c.423 others(35): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 3/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9096964 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0027 | a0001c0001t0002g0063 a0001c0001t0027g0004 |
2 | 226 | 0.0088 | -18 | c.423 others(35): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 3/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9141553 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 59 | 0.0169 | -18 | c.68- others(35): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 1/21 | chr3 | TogoVar | |||||||
SRP54_chr14_34977992_35034567 | 34981184 | TACACACA others(11): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00544.hp1 others(92): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0002g0279 a0001c0001t0002g0363 a0001c0001t0003g0007 others(89): Show |
95 | 104 | 0.9135 | -18 | c.-20 others(29): Show |
SRP54 | ENSG00000100883.13 | transcript | ENST00000216774.11 | protein_coding | 1807 | chr14 | TogoVar | |||||||
SRP54_chr14_34977992_35034567 | 34998965 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0264 | 1 | 392 | 0.0026 | -18 | c.79- others(31): Show |
SRP54 | ENSG00000100883.13 | transcript | ENST00000216774.11 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SRP54_chr14_34977992_35034567 | 35023092 | AAGCTTGT others(11): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00544.hp1 others(91): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0003a0001c0001t0006a0001c0002t0003others(1): Show | a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 others(88): Show |
94 | 394 | 0.2386 | -18 | c.132 others(33): Show |
SRP54 | ENSG00000100883.13 | transcript | ENST00000216774.11 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76072413 | TACCGCCG others(11): Show |
T | conservative_inframe_deletion | MODERATE | HG02145.hp2 NA20752.hp1 |
a0005 | a0005c0008 | a0005c0008t0001a0005c0008t0002 | a0005c0008t0001g0026 a0005c0008t0002g0025 |
2 | 364 | 0.0055 | -18 | c.61_ others(23): Show |
p.Gly others(11): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 1/16 | 104/2831 | 61/1884 | 21/627 | chr17 | TogoVar | |||
SRP9_chr1_225772826_225795464 | 225784229 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0169 | 1 | 23 | 0.0435 | -18 | c.141 others(33): Show |
SRP9 | ENSG00000143742.14 | transcript | ENST00000304786.12 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRPK1_chr6_35827966_35926098 | 35863620 | TGGGGAGG others(11): Show |
T | intron_variant | MODIFIER | NA18612.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0136 | 1 | 340 | 0.0029 | -18 | c.151 others(37): Show |
SRPK1 | ENSG00000096063.16 | transcript | ENST00000373825.7 | protein_coding | 12/15 | chr6 | TogoVar | |||||||
SRPK1_chr6_35827966_35926098 | 35881426 | CATATAGA others(11): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG02257.hp1 HG02280.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0002 | a0001c0001t0001g0005 a0001c0001t0001g0038 a0001c0001t0001g0039 others(10): Show |
14 | 95 | 0.1474 | -18 | c.478 others(35): Show |
SRPK1 | ENSG00000096063.16 | transcript | ENST00000373825.7 | protein_coding | 6/15 | chr6 | TogoVar | |||||||
SRPK1_chr6_35827966_35926098 | 35915997 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01496.hp1 HG02572.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 a0001c0001t0001g0108 a0001c0001t0001g0160 others(5): Show |
8 | 168 | 0.0476 | -18 | c.74+ others(33): Show |
SRPK1 | ENSG00000096063.16 | transcript | ENST00000373825.7 | protein_coding | 2/15 | chr6 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105205515 | TCTCACAC others(11): Show |
T | intron_variant | MODIFIER | HG02897.hp1 HG03471.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 |
3 | 161 | 0.0186 | -18 | c.72- others(33): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105245034 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02965.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0115 a0001c0001t0005g0114 a0001c0001t0005g0116 |
3 | 11 | 0.2727 | -18 | c.72- others(35): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105323967 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG02897.hp1 HG03471.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 |
3 | 87 | 0.0345 | -18 | c.71+ others(35): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105342326 | AATTAATA others(11): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02965.hp1 HG03017.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0003 | a0001c0001t0001g0115 a0001c0001t0005g0114 a0001c0001t0005g0116 others(10): Show |
13 | 280 | 0.0464 | -18 | c.71+ others(35): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105378215 | TACTGGTT others(11): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00558.hp1 others(74): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0032 others(74): Show |
77 | 280 | 0.2750 | -18 | c.71+ others(35): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRRM4_chr12_118976541_119168051 | 119137587 | GGAGAGAG others(11): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG03239.hp1 NA18960.hp1 others(3): Show |
a0001a0003a0011 | a0001c0001a0003c0003a0011c0017 | a0001c0001t0003a0001c0001t0005a0001c0001t0059others(2): Show | a0001c0001t0003g0198 a0001c0001t0003g0257 a0001c0001t0005g0122 others(3): Show |
6 | 23 | 0.2609 | -18 | c.771 others(35): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRRM4_chr12_118976541_119168051 | 119158967 | TTGTGTGT others(11): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02559.hp1 others(7): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(4): Show | a0001c0001t0001g0034 a0001c0001t0003g0304 a0001c0001t0012g0083 others(7): Show |
10 | 67 | 0.1493 | -18 | c.*22 others(29): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 13/13 | 2203 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SRSF11_chr1_70216380_70258052 | 70243336 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG01261.hp2 HG01943.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0013 | a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0001g0130 others(7): Show |
15 | 27 | 0.5556 | -18 | c.801 others(35): Show |
SRSF11 | ENSG00000116754.14 | transcript | ENST00000370949.2 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRSF11_chr1_70216380_70258052 | 70244495 | AAAGGTAT others(11): Show |
A | intron_variant | MODIFIER | HG02683.hp2 HG03710.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0098 |
3 | 336 | 0.0089 | -18 | c.801 others(33): Show |
SRSF11 | ENSG00000116754.14 | transcript | ENST00000370949.2 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRSF6_chr20_43452896_43469243 | 43461337 | GTTTTTTT others(11): Show |
G | 3_prime_UTR_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0001 | 1 | 145 | 0.0069 | -18 | c.*29 others(27): Show |
SRSF6 | ENSG00000124193.16 | transcript | ENST00000244020.5 | protein_coding | 6/6 | 294 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SS18L1_chr20_62138769_62187514 | 62150633 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | NA18985.hp2 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 a0001c0001t0001g0125 |
2 | 9 | 0.2222 | -18 | c.69+ others(33): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SSBP2_chr5_81407804_81756097 | 81501212 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG02055.hp1 HG02258.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0017a0001c0001t0036others(3): Show | a0001c0001t0004g0038 a0001c0001t0017g0086 a0001c0001t0036g0039 others(4): Show |
7 | 117 | 0.0598 | -18 | c.373 others(37): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 5/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81501254 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG01256.hp2 HG01258.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0009g0015 others(6): Show |
9 | 204 | 0.0441 | -18 | c.373 others(37): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 5/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81624985 | TTCAAAAT others(11): Show |
T | intron_variant | MODIFIER | HG02258.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0061 | a0001c0001t0026g0048 a0001c0001t0061g0189 |
2 | 204 | 0.0098 | -18 | c.198 others(35): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 3/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81652237 | TTCCTTTA others(11): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01167.hp2 HG02055.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0007a0001c0001t0017others(5): Show | a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0007g0143 others(6): Show |
9 | 204 | 0.0441 | -18 | c.63- others(33): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 1/16 | chr5 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54240073 | TGTGTGTG others(11): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0142 a0001c0001t0005g0040 |
2 | 278 | 0.0072 | -18 | c.856 others(33): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 13/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54240087 | TGCGCGCG others(11): Show |
T | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0264 | 1 | 251 | 0.0040 | -18 | c.856 others(33): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 13/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54289027 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0140 | 1 | 278 | 0.0036 | -18 | c.277 others(35): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54294157 | AAAAAAGA others(11): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG01346.hp1 HG01934.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0055 a0001c0001t0001g0068 a0001c0001t0002g0038 others(19): Show |
22 | 275 | 0.0800 | -18 | c.277 others(37): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54316659 | ATAAAATA others(11): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0031 | a0001c0002t0031g0117 | 1 | 241 | 0.0041 | -18 | c.277 others(37): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSC4D_chr7_76384337_76414697 | 76405271 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG02165.hp2 HG02970.hp2 HG03225.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001a0001c0004t0003 | a0001c0001t0001g0031 a0001c0001t0001g0177 a0001c0001t0001g0185 others(2): Show |
6 | 122 | 0.0492 | -18 | c.-66 others(33): Show |
SSC4D | ENSG00000146700.9 | transcript | ENST00000275560.4 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
SSC5D_chr19_55483436_55524099 | 55506373 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00621.hp1 others(50): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0086a0002c0085others(11): Show | a0001c0001t0001a0001c0086t0001a0002c0085t0002others(11): Show | a0001c0001t0001g0114 a0001c0086t0001g0289 a0002c0085t0002g0204 others(50): Show |
53 | 62 | 0.8548 | -18 | c.278 others(37): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SSC5D_chr19_55483436_55524099 | 55514406 | AAATAATA others(11): Show |
A | intron_variant | MODIFIER | NA18943.hp1 | a0046 | a0046c0093 | a0046c0093t0002 | a0046c0093t0002g0108 | 1 | 316 | 0.0032 | -18 | c.294 others(37): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SSC5D_chr19_55483436_55524099 | 55518174 | CACCCCAC others(11): Show |
C | disruptive_inframe_deletion | MODERATE | HG00621.hp1 HG00642.hp2 HG00733.hp1 others(74): Show |
a0004a0005a0018others(12): Show | a0004c0004a0004c0015a0004c0050others(22): Show | a0004c0004t0001a0004c0015t0001a0004c0050t0001others(22): Show | a0004c0004t0001g0240 a0004c0004t0001g0241 a0004c0004t0001g0287 others(74): Show |
77 | 410 | 0.1878 | -18 | c.390 others(27): Show |
p.Met others(15): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 14/14 | 4062/4977 | 3908/4722 | 1303/1573 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
SSPN_chr12_26190573_26239777 | 26191677 | TACACACA others(11): Show |
T | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 a0001c0001t0002g0171 |
2 | 11 | 0.1818 | -18 | c.-39 others(29): Show |
SSPN | ENSG00000123096.12 | transcript | ENST00000242729.7 | protein_coding | 3895 | chr12 | TogoVar | |||||||
SSPN_chr12_26190573_26239777 | 26201030 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0143 | 1 | 381 | 0.0026 | -18 | c.279 others(35): Show |
SSPN | ENSG00000123096.12 | transcript | ENST00000242729.7 | protein_coding | 1/2 | chr12 | TogoVar | |||||||
SSRP1_chr11_57320988_57340892 | 57325278 | ACGCCGGC others(11): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG01891.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0011 | a0001c0001t0001a0001c0001t0003a0002c0011t0001 | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0003g0006 others(1): Show |
11 | 368 | 0.0299 | -18 | c.*11 others(29): Show |
SSRP1 | ENSG00000149136.9 | transcript | ENST00000278412.7 | protein_coding | 709 | chr11 | TogoVar | |||||||
SSTR2_chr17_73160010_73181633 | 73165295 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0198 | a0001c0001t0198g0069 | 1 | 260 | 0.0038 | -18 | c.-93 others(31): Show |
SSTR2 | ENSG00000180616.9 | transcript | ENST00000357585.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SSU72_chr1_1536673_1579863 | 1571244 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(265): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(227): Show |
268 | 295 | 0.9085 | -18 | c.80+ others(33): Show |
SSU72 | ENSG00000160075.12 | transcript | ENST00000291386.4 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
SSU72_chr1_1536673_1579863 | 1573429 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(274): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(237): Show |
277 | 327 | 0.8471 | -18 | c.80+ others(33): Show |
SSU72 | ENSG00000160075.12 | transcript | ENST00000291386.4 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
ST13_chr22_40819535_40861639 | 40821747 | CACGTATA others(11): Show |
C | downstream_gene_variant | MODIFIER | HG02559.hp2 HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 3 | 342 | 0.0088 | -18 | c.*47 others(29): Show |
ST13 | ENSG00000100380.15 | transcript | ENST00000216218.8 | protein_coding | 2787 | chr22 | TogoVar | |||||||
ST13_chr22_40819535_40861639 | 40847548 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 341 | 0.0029 | -18 | c.244 others(33): Show |
ST13 | ENSG00000100380.15 | transcript | ENST00000216218.8 | protein_coding | 3/11 | chr22 | TogoVar | |||||||
ST18_chr8_52105838_52414756 | 52267704 | TACAGAAA others(11): Show |
T | intron_variant | MODIFIER | HG03453.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 |
2 | 102 | 0.0196 | -18 | c.-46 others(39): Show |
ST18 | ENSG00000147488.13 | transcript | ENST00000689386.1 | protein_coding | 2/25 | chr8 | TogoVar | |||||||
ST18_chr8_52105838_52414756 | 52302323 | TCATGGTT others(11): Show |
T | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0079 | 1 | 102 | 0.0098 | -18 | c.-46 others(39): Show |
ST18 | ENSG00000147488.13 | transcript | ENST00000689386.1 | protein_coding | 2/25 | chr8 | TogoVar |