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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SREK1IP1_chr5_64713148_64773691 | 64731521 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01167.hp1 NA18522.hp1 NA20300.hp1 |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0030 a0001c0003t0005g0032 a0001c0003t0005g0051 |
3 | 278 | 0.0108 | 24 | c.206 others(41): Show |
SREK1IP1 | ENSG00000153006.16 | transcript | ENST00000513458.9 | protein_coding | 3/4 | chr5 | TogoVar | |||||||
SRGAP1_chr12_63839700_64167217 | 63913480 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02300.hp2 HG02698.hp2 NA18979.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0105a0001c0001t0122a0001c0002t0031 | a0001c0001t0105g0067 a0001c0001t0122g0073 a0001c0002t0031g0063 |
3 | 102 | 0.0294 | 24 | c.67+ others(41): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64039628 | C | CGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG02698.hp2 HG03471.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0122a0001c0002t0057 | a0001c0001t0122g0073 a0001c0002t0057g0040 |
2 | 16 | 0.1250 | 24 | c.490 others(41): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64044674 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02895.hp2 NA18946.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0035a0001c0002t0036a0001c0002t0040others(1): Show | a0001c0002t0035g0027 a0001c0002t0036g0136 a0001c0002t0040g0034 others(1): Show |
4 | 64 | 0.0625 | 24 | c.801 others(41): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64144233 | T | TTTGTTGT others(17): Show |
3_prime_UTR_variant | MODIFIER | HG00558.hp1 HG01109.hp2 HG01257.hp1 others(20): Show |
a0001 | a0001c0001a0001c0006a0001c0007 | a0001c0001t0006a0001c0001t0007a0001c0001t0011others(18): Show | a0001c0001t0006g0115 a0001c0001t0006g0154 a0001c0001t0007g0039 others(20): Show |
23 | 125 | 0.1840 | 24 | c.*15 others(35): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 22/22 | 1583 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SRGAP2B_chr1_144882288_145100328 | 144883192 | G | GGGGGGCA others(17): Show |
downstream_gene_variant | MODIFIER | HG03490.hp1 | a0008 | a0008c0004 | a0008c0004t0005 | a0008c0004t0005g0012 | 1 | 53 | 0.0189 | 24 | c.*89 others(35): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4095 | chr1 | TogoVar | |||||||
SRGAP2C_chr1_121179975_121397874 | 121396410 | C | CCCGCCGC others(17): Show |
downstream_gene_variant | MODIFIER | HG03490.hp1 HG03492.hp2 HG03710.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0027 | a0002c0002t0002g0061 a0002c0002t0002g0070 a0002c0002t0002g0071 others(4): Show |
7 | 270 | 0.0259 | 24 | c.*85 others(35): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 3537 | chr1 | TogoVar | |||||||
SRGAP2_chr1_206198541_206469436 | 206279581 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 51 | 0.0196 | 24 | c.68- others(41): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2_chr1_206198541_206469436 | 206353697 | A | AAAATAAA others(17): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03209.hp1 NA18906.hp1 |
a0001a0003 | a0001c0001a0001c0003a0003c0012 | a0001c0001t0004a0001c0003t0007a0003c0012t0023 | a0001c0001t0004g0110 a0001c0003t0007g0067 a0003c0012t0023g0131 |
3 | 143 | 0.0210 | 24 | c.423 others(43): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP3_chr3_8975591_9254646 | 9164276 | T | TTTTATTT others(17): Show |
intron_variant | MODIFIER | HG01516.hp1 HG02071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0032 | a0001c0001t0001g0021 a0001c0001t0032g0055 |
2 | 131 | 0.0153 | 24 | c.68- others(41): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 1/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9214120 | A | ACACACAC others(17): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02132.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0085 a0001c0001t0001g0118 a0001c0001t0002g0185 |
3 | 226 | 0.0133 | 24 | c.67+ others(41): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 1/21 | chr3 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4220278 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0281 a0001c0001t0006g0017 |
2 | 115 | 0.0174 | 24 | c.62- others(41): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
SRMS_chr20_63533489_63552749 | 63535834 | G | GCCCCCTC others(17): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG04204.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0003 | a0001c0001t0005g0093 a0001c0002t0003g0002 |
2 | 282 | 0.0071 | 24 | c.*49 others(35): Show |
SRMS | ENSG00000125508.4 | transcript | ENST00000217188.2 | protein_coding | 2654 | chr20 | TogoVar | |||||||
SRMS_chr20_63533489_63552749 | 63535887 | T | TCCTCACC others(17): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG02165.hp1 HG02523.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0014g0017 |
5 | 314 | 0.0159 | 24 | c.*49 others(35): Show |
SRMS | ENSG00000125508.4 | transcript | ENST00000217188.2 | protein_coding | 2601 | chr20 | TogoVar | |||||||
SRM_chr1_11049589_11065018 | 11064537 | C | CAAAAAAA others(17): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 271 | 0.0037 | 24 | c.-45 others(35): Show |
SRM | ENSG00000116649.10 | transcript | ENST00000376957.7 | protein_coding | 4520 | chr1 | TogoVar | |||||||
SRP54_chr14_34977992_35034567 | 35014290 | T | TTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0380 | 1 | 183 | 0.0055 | 24 | c.886 others(39): Show |
SRP54 | ENSG00000100883.13 | transcript | ENST00000216774.11 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SRP72_chr4_56462617_56508681 | 56484026 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0164 | 1 | 134 | 0.0075 | 24 | c.958 others(39): Show |
SRP72 | ENSG00000174780.17 | transcript | ENST00000642900.1 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SRPK1_chr6_35827966_35926098 | 35885298 | C | CACACACA others(17): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0010 | 1 | 242 | 0.0041 | 24 | c.478 others(41): Show |
SRPK1 | ENSG00000096063.16 | transcript | ENST00000373825.7 | protein_coding | 6/15 | chr6 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105168745 | A | ATGTGTGT others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01071.hp2 HG01123.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0229 a0001c0001t0001g0253 a0001c0001t0001g0272 others(1): Show |
4 | 70 | 0.0571 | 24 | c.338 others(39): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 4/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105170745 | G | GAGGAAGG others(17): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01168.hp2 HG01192.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003 | a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0171 others(7): Show |
10 | 77 | 0.1299 | 24 | c.230 others(41): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 3/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105170781 | A | AAGGAAGG others(17): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01433.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 a0001c0001t0001g0154 |
2 | 278 | 0.0072 | 24 | c.230 others(41): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 3/15 | chr7 | TogoVar | |||||||
SRPX2_chrX_100639199_100680788 | 100657349 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00639.hp2 HG00673.hp1 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(41): Show |
49 | 63 | 0.7778 | 24 | c.164 others(41): Show |
SRPX2 | ENSG00000102359.9 | transcript | ENST00000373004.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SRRM1_chr1_24638302_24678281 | 24640519 | C | CAAAAAAA others(17): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0230 |
2 | 116 | 0.0172 | 24 | c.-28 others(35): Show |
SRRM1 | ENSG00000133226.19 | transcript | ENST00000323848.14 | protein_coding | 2782 | chr1 | TogoVar | |||||||
SRRM1_chr1_24638302_24678281 | 24652029 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02132.hp1 HG02523.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0086 a0001c0001t0001g0087 others(5): Show |
9 | 81 | 0.1111 | 24 | c.726 others(39): Show |
SRRM1 | ENSG00000133226.19 | transcript | ENST00000323848.14 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRRM3_chr7_76196896_76292287 | 76208363 | G | GTCCTGGG others(17): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 322 | 0.0031 | 24 | c.-40 others(41): Show |
SRRM3 | ENSG00000177679.16 | transcript | ENST00000611745.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SRRM4_chr12_118976541_119168051 | 119122244 | A | AAGGAAGG others(17): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0064 | a0001c0001t0012g0141 a0001c0001t0064g0185 |
2 | 289 | 0.0069 | 24 | c.515 others(39): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRRM4_chr12_118976541_119168051 | 119122292 | C | CAGGAAGG others(17): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0003 | a0003c0003 | a0003c0003t0047 | a0003c0003t0047g0056 | 1 | 120 | 0.0083 | 24 | c.515 others(39): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRRM5_chr19_43607088_43619498 | 43609359 | G | GGAGAGAG others(17): Show |
upstream_gene_variant | MODIFIER | NA18940.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 285 | 0.0035 | 24 | c.-27 others(35): Show |
SRRM5 | ENSG00000226763.5 | transcript | ENST00000417606.3 | protein_coding | 2728 | chr19 | TogoVar | |||||||
SRSF8_chr11_95061919_95076225 | 95070368 | C | CAAAAAAA others(17): Show |
3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02717.hp2 HG02809.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0000 | 11 | 14 | 0.7857 | 24 | c.*23 others(35): Show |
SRSF8 | ENSG00000263465.5 | transcript | ENST00000587424.3 | protein_coding | 1/1 | 2310 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SRXN1_chr20_641615_658200 | 643606 | G | GGGTGGCA others(17): Show |
downstream_gene_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 420 | 0.0024 | 24 | c.*51 others(35): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 3008 | chr20 | TogoVar | |||||||
SS18L1_chr20_62138769_62187514 | 62150633 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 8 | 0.1250 | 24 | c.69+ others(39): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SS18_chr18_26011253_26095613 | 26065800 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02109.hp1 HG02280.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0012 | a0001c0001t0001g0013 a0001c0001t0001g0190 a0001c0001t0001g0273 others(2): Show |
5 | 12 | 0.4167 | 24 | c.232 others(41): Show |
SS18 | ENSG00000141380.14 | transcript | ENST00000415083.7 | protein_coding | 3/10 | chr18 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81415922 | A | AAAAAAAA others(17): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG01981.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0008a0001c0001t0017others(9): Show | a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0104 others(27): Show |
30 | 100 | 0.3000 | 24 | c.*45 others(35): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 17/17 | 4581 | chr5 | TogoVar | ||||||
SSBP2_chr5_81407804_81756097 | 81445136 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0109 | 1 | 96 | 0.0104 | 24 | c.802 others(41): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 12/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81542817 | T | TTCTCTCT others(17): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02572.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0024a0001c0001t0027others(1): Show | a0001c0001t0004g0038 a0001c0001t0004g0082 a0001c0001t0024g0117 others(3): Show |
6 | 81 | 0.0741 | 24 | c.283 others(43): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 4/16 | chr5 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54298930 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG01257.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(8): Show | a0001c0001t0003g0188 a0001c0001t0006g0181 a0001c0001t0007g0207 others(8): Show |
11 | 65 | 0.1692 | 24 | c.277 others(43): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54327217 | A | AAAGGAAG others(17): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0061 a0001c0001t0004g0115 a0001c0001t0005g0076 |
3 | 49 | 0.0612 | 24 | c.277 others(43): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54386683 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02056.hp2 HG02109.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0002g0119 a0001c0001t0004g0139 a0001c0001t0008g0244 others(2): Show |
5 | 80 | 0.0625 | 24 | c.276 others(43): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSB_chr2_169793871_169817064 | 169812423 | C | CCGATGAT others(17): Show |
downstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | 24 | c.*66 others(33): Show |
SSB | ENSG00000138385.16 | transcript | ENST00000260956.9 | protein_coding | 360 | chr2 | TogoVar | |||||||
SSC4D_chr7_76384337_76414697 | 76394768 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0054 | 1 | 335 | 0.0030 | 24 | c.946 others(39): Show |
SSC4D | ENSG00000146700.9 | transcript | ENST00000275560.4 | protein_coding | 7/10 | chr7 | TogoVar | |||||||
SSC5D_chr19_55483436_55524099 | 55495233 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0338 | 1 | 190 | 0.0053 | 24 | c.138 others(41): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SSH1_chr12_108773191_108862583 | 108835990 | T | TATATTAA others(17): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03453.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0012a0001c0001t0090 | a0001c0001t0007g0036 a0001c0001t0012g0295 a0001c0001t0090g0297 |
3 | 327 | 0.0092 | 24 | c.111 others(43): Show |
SSH1 | ENSG00000084112.15 | transcript | ENST00000326495.10 | protein_coding | 2/14 | chr12 | TogoVar | |||||||
SSH1_chr12_108773191_108862583 | 108836014 | T | TATATTAA others(17): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02109.hp2 HG02145.hp2 others(11): Show |
a0001a0003a0008 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0009others(5): Show | a0001c0001t0002g0088 a0001c0001t0006g0237 a0001c0001t0009g0100 others(11): Show |
14 | 30 | 0.4667 | 24 | c.111 others(43): Show |
SSH1 | ENSG00000084112.15 | transcript | ENST00000326495.10 | protein_coding | 2/14 | chr12 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29661061 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0010 | 1 | 203 | 0.0049 | 24 | c.103 others(43): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 11/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29709015 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0007 | 1 | 128 | 0.0078 | 24 | c.189 others(41): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 3/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29709015 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0222 | 1 | 128 | 0.0078 | 24 | c.189 others(41): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 3/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29913347 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00639.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 a0001c0001t0001g0066 |
2 | 86 | 0.0233 | 24 | c.63+ others(41): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 1/15 | chr17 | TogoVar | |||||||
SSPN_chr12_26190573_26239777 | 26233355 | T | TATATATA others(17): Show |
3_prime_UTR_variant | MODIFIER | HG03209.hp1 | a0005 | a0005c0006 | a0005c0006t0049 | a0005c0006t0049g0101 | 1 | 297 | 0.0034 | 24 | c.*22 others(35): Show |
SSPN | ENSG00000123096.12 | transcript | ENST00000242729.7 | protein_coding | 3/3 | 2281 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SSTR1_chr14_38202904_38218067 | 38210558 | C | CGCTCTGA others(17): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00609.hp1 others(65): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006a0001c0002t0009others(3): Show | a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0004 others(7): Show |
68 | 448 | 0.1518 | 24 | c.*20 others(31): Show |
SSTR1 | ENSG00000139874.6 | transcript | ENST00000267377.3 | protein_coding | 3/3 | 44 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SSTR2_chr17_73160010_73181633 | 73164123 | G | GGTGTGTG others(17): Show |
upstream_gene_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0004 | 1 | 78 | 0.0128 | 24 | c.-12 others(35): Show |
SSTR2 | ENSG00000180616.9 | transcript | ENST00000357585.4 | protein_coding | 886 | chr17 | TogoVar |