regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SH3PXD2B_chr5_172328499_172459525 | 172439262 | AACAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02895.hp1 HG02965.hp1 |
a0001a0002a0004 | a0001c0001a0002c0004a0004c0006 | a0001c0001t0089a0002c0004t0067a0004c0006t0013 | a0001c0001t0089g0265a0002c0004t0067g0035a0004c0006t0013g0030 | 3 | 280 | 0.0107 | -19 | c.75+ others(36): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 1/12 | chr5 | TogoVar | ||||||
SH3RF2_chr5_145931578_146068292 | 146033451 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(67): Show |
a0001a0004a0016others(2): Show | a0001c0001a0001c0014a0001c0016others(4): Show | a0001c0001t0002a0001c0014t0002a0001c0016t0002others(4): Show | a0001c0001t0002g0014a0001c0001t0002g0015a0001c0001t0002g0016others(67): Show | 70 | 272 | 0.2574 | -19 | c.106 others(40): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SH3RF2_chr5_145931578_146068292 | 146064690 | GAAAGAAA others(12): Show |
G | downstream_gene_variant | MODIFIER | HG01069.hp2 HG03453.hp1 NA20129.hp2 |
a0001a0007a0015 | a0001c0001a0007c0009a0015c0012 | a0001c0001t0001a0007c0009t0001a0015c0012t0001 | a0001c0001t0001g0090a0007c0009t0001g0251a0015c0012t0001g0202 | 3 | 272 | 0.0110 | -19 | c.*19 others(30): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 1399 | chr5 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109129326 | TGGCCGGT others(12): Show |
T | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(155): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(89): Show | a0001c0001t0001g0020a0001c0001t0001g0025a0001c0001t0001g0026others(155): Show | 158 | 172 | 0.9186 | -19 | c.-18 others(28): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/10 | 169 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
SH3RF3_chr2_109124205_109509634 | 109146032 | CGGAGTCC others(12): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01167.hp2 others(16): Show |
a0001 | a0001c0001a0001c0003a0001c0025 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(10): Show | a0001c0001t0001g0051a0001c0001t0001g0052a0001c0001t0001g0054others(16): Show | 19 | 172 | 0.1105 | -19 | c.573 others(38): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SH3RF3_chr2_109124205_109509634 | 109199491 | AATGGATG others(12): Show |
A | intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0008 | a0001c0008t0019 | a0001c0008t0019g0069 | 1 | 172 | 0.0058 | -19 | c.573 others(38): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SH3RF3_chr2_109124205_109509634 | 109495477 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp2 others(38): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(26): Show | a0001c0001t0002g0070a0001c0001t0002g0084a0001c0001t0002g0098others(38): Show | 41 | 172 | 0.2384 | -19 | c.248 others(38): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SH3YL1_chr2_213144_269032 | 235332 | AGAGGCAG others(12): Show |
A | intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0232 | 1 | 360 | 0.0028 | -19 | c.292 others(36): Show |
SH3YL1 | ENSG00000035115.22 | transcript | ENST00000356150.10 | protein_coding | 4/9 | chr2 | TogoVar | ||||||
SH3YL1_chr2_213144_269032 | 235376 | AGCAGCAT others(12): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(109): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0007a0001c0003t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0014others(76): Show | 112 | 360 | 0.3111 | -19 | c.292 others(36): Show |
SH3YL1 | ENSG00000035115.22 | transcript | ENST00000356150.10 | protein_coding | 4/9 | chr2 | TogoVar | ||||||
SH3YL1_chr2_213144_269032 | 235660 | AGCAGCAC others(12): Show |
A | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0234 | 1 | 360 | 0.0028 | -19 | c.292 others(36): Show |
SH3YL1 | ENSG00000035115.22 | transcript | ENST00000356150.10 | protein_coding | 4/9 | chr2 | TogoVar | ||||||
SH3YL1_chr2_213144_269032 | 235775 | TCAGGGGA others(12): Show |
T | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 360 | 0.0028 | -19 | c.292 others(36): Show |
SH3YL1 | ENSG00000035115.22 | transcript | ENST00000356150.10 | protein_coding | 4/9 | chr2 | TogoVar | ||||||
SH3YL1_chr2_213144_269032 | 235983 | TCAGGGGA others(12): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02622.hp2 HG02818.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0021a0001c0001t0001g0073 | 6 | 360 | 0.0167 | -19 | c.292 others(36): Show |
SH3YL1 | ENSG00000035115.22 | transcript | ENST00000356150.10 | protein_coding | 4/9 | chr2 | TogoVar | ||||||
SHC3_chr9_89000771_89183818 | 89082427 | CACAGCCA others(12): Show |
C | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0003 | a0001c0003t0046 | a0001c0003t0046g0007 | 1 | 188 | 0.0053 | -19 | c.546 others(36): Show |
SHC3 | ENSG00000148082.10 | transcript | ENST00000375835.9 | protein_coding | 2/11 | chr9 | TogoVar | ||||||
SHC4_chr15_48818741_48968919 | 48968537 | AAACACAC others(12): Show |
A | upstream_gene_variant | MODIFIER | NA19001.hp1 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0070a0001c0001t0002g0262 | 2 | 384 | 0.0052 | -19 | c.-55 others(30): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 4619 | chr15 | TogoVar | ||||||
SHCBP1L_chr1_182894865_182958166 | 182898672 | CAAAAAAA others(12): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00597.hp2 HG01070.hp2 others(56): Show |
a0001a0002a0011 | a0001c0001a0002c0002a0011c0014 | a0001c0001t0001a0002c0002t0001a0011c0014t0001 | a0001c0001t0001g0074a0001c0001t0001g0075a0001c0001t0001g0076others(56): Show | 59 | 302 | 0.1954 | -19 | c.*12 others(30): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 1192 | chr1 | TogoVar | ||||||
SHCBP1L_chr1_182894865_182958166 | 182924700 | GGAAGAAA others(12): Show |
G | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 302 | 0.0033 | -19 | c.118 others(38): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar | ||||||
SHCBP1L_chr1_182894865_182958166 | 182952186 | AAAAAAAT others(12): Show |
A | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 302 | 0.0033 | -19 | c.405 others(34): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
SHISA5_chr3_48462876_48509174 | 48465426 | GACCTGCC others(12): Show |
G | downstream_gene_variant | MODIFIER | HG00609.hp2 NA18747.hp1 NA18747.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0036a0001c0001t0001g0042others(3): Show | 6 | 290 | 0.0207 | -19 | c.*36 others(30): Show |
SHISA5 | ENSG00000164054.17 | transcript | ENST00000296444.7 | protein_coding | 2449 | chr3 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13019488 | TTATTGTG others(12): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0137 | 1 | 214 | 0.0047 | -19 | c.691 others(40): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SHISAL1_chr22_44238665_44317951 | 44296558 | CACCCAAC others(12): Show |
C | intron_variant | MODIFIER | HG00423.hp2 NA18949.hp1 NA19065.hp1 |
a0001 | a0001c0275a0001c0318a0001c0323 | a0001c0275t0001a0001c0318t0008a0001c0323t0001 | a0001c0275t0001g0285a0001c0318t0008g0079a0001c0323t0001g0294 | 3 | 380 | 0.0079 | -19 | c.281 others(33): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 3/4 | chr22 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5764136 | AAAAATAT others(12): Show |
A | intron_variant | MODIFIER | NA18951.hp2 NA18966.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0019a0002c0003t0001g0046 | 2 | 328 | 0.0061 | -19 | c.-4- others(34): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SHLD1_chr20_5745401_5869395 | 5764192 | TTTATATA others(12): Show |
T | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0200 | 1 | 328 | 0.0031 | -19 | c.-4- others(34): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SHLD1_chr20_5745401_5869395 | 5860876 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp1 HG02615.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0005a0001c0001t0001g0021a0001c0001t0001g0022others(9): Show | 12 | 328 | 0.0366 | -19 | c.179 others(36): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SHOC2_chr10_110914604_111018665 | 110940910 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(196): Show | 220 | 386 | 0.5700 | -19 | c.-23 others(40): Show |
SHOC2 | ENSG00000108061.13 | transcript | ENST00000369452.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SHOC2_chr10_110914604_111018665 | 110987163 | TGCTTGTA others(12): Show |
T | intron_variant | MODIFIER | HG02602.hp1 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155a0001c0001t0001g0156 | 2 | 386 | 0.0052 | -19 | c.841 others(36): Show |
SHOC2 | ENSG00000108061.13 | transcript | ENST00000369452.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SHROOM3_chr4_76430229_76788253 | 76735853 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0193 | 1 | 218 | 0.0046 | -19 | c.588 others(36): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SHROOM3_chr4_76430229_76788253 | 76735855 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG02809.hp1 HG02895.hp1 others(2): Show |
a0001a0011 | a0001c0001a0011c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(2): Show | a0001c0001t0001g0052a0001c0001t0002g0185a0001c0001t0014g0186others(2): Show | 5 | 218 | 0.0229 | -19 | c.588 others(36): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SHROOM3_chr4_76430229_76788253 | 76735859 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0025 | 1 | 218 | 0.0046 | -19 | c.588 others(36): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SHTN1_chr10_116876477_117010187 | 116963035 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG01168.hp1 HG01243.hp2 HG01255.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0043a0001c0001t0001g0047a0001c0001t0001g0074others(14): Show | 17 | 292 | 0.0582 | -19 | c.173 others(36): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 3/16 | chr10 | TogoVar | ||||||
SIAE_chr11_124628113_124678739 | 124663410 | ACTAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0185 | 1 | 290 | 0.0035 | -19 | c.230 others(36): Show |
SIAE | ENSG00000110013.13 | transcript | ENST00000263593.8 | protein_coding | 2/9 | chr11 | TogoVar | ||||||
SIGLEC9_chr19_51119906_51135310 | 51134147 | CTTTTTTT others(12): Show |
C | downstream_gene_variant | MODIFIER | HG03209.hp1 HG03486.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0038 | 2 | 442 | 0.0045 | -19 | c.*40 others(30): Show |
SIGLEC9 | ENSG00000129450.9 | transcript | ENST00000250360.8 | protein_coding | 3838 | chr19 | TogoVar | ||||||
SIK2_chr11_111597449_111735855 | 111692350 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0169 | 1 | 198 | 0.0051 | -19 | c.478 others(36): Show |
SIK2 | ENSG00000170145.5 | transcript | ENST00000304987.4 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SIK3_chr11_116838402_117103428 | 117016230 | GCAGGAGA others(12): Show |
G | intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0239 | 1 | 366 | 0.0027 | -19 | c.274 others(38): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | ||||||
SIK3_chr11_116838402_117103428 | 117023593 | CAAACAAA others(12): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00609.hp2 HG01261.hp2 others(30): Show |
a0001a0017 | a0001c0001a0017c0022 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0047a0001c0001t0002g0104a0001c0001t0002g0105others(30): Show | 33 | 366 | 0.0902 | -19 | c.274 others(38): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | ||||||
SIK3_chr11_116838402_117103428 | 117023597 | CAAACAAA others(12): Show |
C | intron_variant | MODIFIER | HG02040.hp1 HG02080.hp2 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0026 | a0001c0001t0004g0114a0001c0001t0004g0118a0001c0001t0026g0113 | 3 | 366 | 0.0082 | -19 | c.274 others(38): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | ||||||
SIM1_chr6_100380009_100469921 | 100412611 | GGAAAGAA others(12): Show |
G | intron_variant | MODIFIER | NA18965.hp1 NA18983.hp2 NA19090.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0014 | a0002c0002t0001g0059a0002c0002t0001g0063a0002c0002t0014g0057 | 3 | 320 | 0.0094 | -19 | c.116 others(38): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | ||||||
SIM1_chr6_100380009_100469921 | 100412696 | AAAGAAAG others(12): Show |
A | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0229 | 1 | 320 | 0.0031 | -19 | c.116 others(38): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | ||||||
SIMC1_chr5_176233424_176350989 | 176308284 | TCGTTCTG others(12): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0003 | a0003c0016 | a0003c0016t0001 | a0003c0016t0001g0348 | 1 | 360 | 0.0028 | -19 | c.173 others(38): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SIN3A_chr15_75364379_75456690 | 75367921 | TTCCCAGC others(12): Show |
T | downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 324 | 0.0031 | -19 | c.*40 others(30): Show |
SIN3A | ENSG00000169375.17 | transcript | ENST00000394947.8 | protein_coding | 1457 | chr15 | TogoVar | ||||||
SIN3A_chr15_75364379_75456690 | 75426840 | TAGGATTG others(12): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG03209.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009a0001c0001t0004g0010a0001c0001t0004g0011 | 3 | 324 | 0.0093 | -19 | c.189 others(36): Show |
SIN3A | ENSG00000169375.17 | transcript | ENST00000394947.8 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71417469 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | NA19007.hp1 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0153a0001c0001t0004g0168 | 2 | 174 | 0.0115 | -19 | c.-46 others(40): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SIPA1L1_chr14_71315476_71746209 | 71590035 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG01071.hp1 HG01081.hp1 HG02602.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027a0001c0001t0002g0028a0001c0001t0002g0035 | 3 | 174 | 0.0172 | -19 | c.149 others(36): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SIPA1L1_chr14_71315476_71746209 | 71627131 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01496.hp2 HG01884.hp1 others(5): Show |
a0001a0009 | a0001c0001a0009c0016 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0066a0001c0001t0002g0095a0001c0001t0003g0156others(5): Show | 8 | 174 | 0.0460 | -19 | c.181 others(38): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SIPA1L2_chr1_232392965_232635133 | 232568842 | TGGAGGAC others(12): Show |
T | intron_variant | MODIFIER | NA18985.hp2 NA18998.hp2 |
a0003a0020 | a0003c0004a0020c0066 | a0003c0004t0003a0020c0066t0003 | a0003c0004t0003g0253a0020c0066t0003g0237 | 2 | 292 | 0.0069 | -19 | c.-27 others(38): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 37906686 | GCGCGCGC others(12): Show |
G | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02622.hp2 HG02723.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0002a0001c0006t0009a0002c0002t0001others(2): Show | a0001c0001t0002g0139a0001c0006t0009g0140a0001c0006t0009g0141others(4): Show | 7 | 164 | 0.0427 | -19 | c.-10 others(30): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 521 | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38128615 | GGCCGGGC others(12): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02280.hp1 others(3): Show |
a0001a0003 | a0001c0004a0003c0005a0003c0012 | a0001c0004t0003a0003c0005t0003a0003c0005t0011others(1): Show | a0001c0004t0003g0100a0003c0005t0003g0110a0003c0005t0011g0029others(3): Show | 6 | 164 | 0.0366 | -19 | c.286 others(38): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SIPA1L3_chr19_37902208_38213369 | 38196486 | TGTCAAGG others(12): Show |
T | intron_variant | MODIFIER | HG02155.hp2 HG03834.hp2 NA18946.hp2 others(3): Show |
a0004a0011a0020others(1): Show | a0004c0007a0004c0017a0011c0016others(2): Show | a0004c0007t0002a0004c0017t0002a0011c0016t0002others(3): Show | a0004c0007t0002g0150a0004c0017t0002g0118a0011c0016t0002g0006others(3): Show | 6 | 164 | 0.0366 | -19 | c.484 others(38): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SIRPB1_chr20_1556385_1625009 | 1564009 | ACATTTTT others(12): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0105 | 1 | 364 | 0.0028 | -19 | c.*14 others(30): Show |
SIRPB1 | ENSG00000101307.16 | transcript | ENST00000381605.9 | protein_coding | 6/6 | 2127 | chr20 | TogoVar | |||||
SIRT3_chr11_210030_241342 | 240101 | CTTTTTTT others(12): Show |
C | upstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0203 | 1 | 414 | 0.0024 | -19 | c.-37 others(30): Show |
SIRT3 | ENSG00000142082.15 | transcript | ENST00000382743.9 | protein_coding | 3760 | chr11 | TogoVar | ||||||
SIRT4_chr12_120297321_120318249 | 120304825 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02630.hp2 HG02723.hp1 others(4): Show |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0001a0002c0004t0001 | a0001c0003t0001g0015a0001c0003t0001g0181a0001c0003t0001g0183others(3): Show | 7 | 380 | 0.0184 | -19 | c.497 others(34): Show |
SIRT4 | ENSG00000089163.4 | transcript | ENST00000202967.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |