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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCML4_chr6_107697154_107829313 | 107778207 | AAAAAAAA others(30): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG03130.hp1 HG03195.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0003a0001c0001t0019a0001c0002t0009others(4): Show | a0001c0001t0003g0080a0001c0001t0019g0137a0001c0002t0009g0078others(4): Show | 7 | 250 | 0.0280 | -37 | c.-59 others(54): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
SCML4_chr6_107697154_107829313 | 107778209 | AAAAAAAA others(30): Show |
A | intron_variant | MODIFIER | HG03130.hp2 NA19077.hp1 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0027a0001c0010t0007 | a0001c0001t0027g0143a0001c0010t0007g0044 | 2 | 250 | 0.0080 | -37 | c.-59 others(54): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
SCML4_chr6_107697154_107829313 | 107778211 | AAAAAAAA others(30): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01169.hp2 HG01934.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006others(1): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0013others(4): Show | a0001c0001t0003g0038a0001c0001t0003g0043a0001c0001t0006g0060others(5): Show | 8 | 250 | 0.0320 | -37 | c.-59 others(54): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
SCN11A_chr3_38840764_39056944 | 38963393 | GATATATA others(30): Show |
G | intron_variant | MODIFIER | HG02559.hp1 HG02818.hp2 HG03130.hp1 |
a0001 | a0001c0011a0001c0016 | a0001c0011t0011a0001c0016t0001 | a0001c0011t0011g0258a0001c0011t0011g0259a0001c0016t0001g0263 | 3 | 314 | 0.0096 | -37 | c.-27 others(56): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 2/29 | chr3 | TogoVar | ||||||
SCN11A_chr3_38840764_39056944 | 38970001 | AGCTGCCT others(30): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01074.hp1 others(28): Show |
a0002a0003a0006 | a0002c0014a0003c0004a0006c0022 | a0002c0014t0001a0003c0004t0001a0003c0004t0012others(1): Show | a0002c0014t0001g0226a0002c0014t0001g0236a0003c0004t0001g0063others(28): Show | 31 | 314 | 0.0987 | -37 | c.-27 others(56): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 2/29 | chr3 | TogoVar | ||||||
SCN7A_chr2_166398573_166499249 | 166414149 | AAATATAT others(30): Show |
A | intron_variant | MODIFIER | HG01891.hp1 | a0025 | a0025c0029 | a0025c0029t0001 | a0025c0029t0001g0211 | 1 | 394 | 0.0025 | -37 | c.341 others(56): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 21/25 | chr2 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1284938 | GCCCCCAC others(30): Show |
G | intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0210 | 1 | 290 | 0.0035 | -37 | c.465 others(52): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SCNN1D_chr1_1275436_1297025 | 1288261 | GTCTCTGC others(30): Show |
G | intron_variant | MODIFIER | NA19077.hp1 | a0022 | a0022c0040 | a0022c0040t0012 | a0022c0040t0012g0159 | 1 | 290 | 0.0035 | -37 | c.166 others(54): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | chr1 | TogoVar | ||||||
SCOC_chr4_140368646_140390728 | 140373233 | TTGAATGA others(30): Show |
T | upstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0001 | 1 | 418 | 0.0024 | -37 | c.-53 others(46): Show |
SCOC | ENSG00000153130.18 | transcript | ENST00000608372.6 | protein_coding | 412 | chr4 | TogoVar | ||||||
SDC2_chr8_96488813_96616790 | 96576377 | TTGTTTTG others(30): Show |
T | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0133 | 1 | 334 | 0.0030 | -37 | c.61- others(54): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SDF2_chr17_28643346_28666906 | 28659220 | AGGCAGAG others(30): Show |
A | intron_variant | MODIFIER | HG02717.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 2 | 398 | 0.0050 | -37 | c.151 others(54): Show |
SDF2 | ENSG00000132581.10 | transcript | ENST00000247020.9 | protein_coding | 1/2 | chr17 | TogoVar | ||||||
SEC14L3_chr22_30454229_30477017 | 30455069 | TATATAAT others(30): Show |
T | downstream_gene_variant | MODIFIER | HG03486.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0013 | 1 | 454 | 0.0022 | -37 | c.*49 others(48): Show |
SEC14L3 | ENSG00000100012.12 | transcript | ENST00000215812.9 | protein_coding | 4159 | chr22 | TogoVar | ||||||
SEC14L5_chr16_4953330_5024157 | 4973402 | GCTTCCGG others(30): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(116): Show |
a0001a0002a0006others(4): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0164others(116): Show | 119 | 376 | 0.3165 | -37 | c.63+ others(54): Show |
SEC14L5 | ENSG00000103184.12 | transcript | ENST00000251170.12 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SEMA6A_chr5_116438555_116579823 | 116576986 | CGAGAGTT others(30): Show |
C | upstream_gene_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0082 | 1 | 304 | 0.0033 | -37 | c.-28 others(48): Show |
SEMA6A | ENSG00000092421.17 | transcript | ENST00000343348.11 | protein_coding | 2164 | chr5 | TogoVar | ||||||
SEPTIN12_chr16_4772606_4793345 | 4774915 | TTCCCAGT others(30): Show |
T | downstream_gene_variant | MODIFIER | HG03486.hp1 NA20129.hp2 NA20300.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0084a0001c0003t0001g0157a0001c0003t0001g0158 | 3 | 422 | 0.0071 | -37 | c.*28 others(48): Show |
SEPTIN12 | ENSG00000140623.14 | transcript | ENST00000268231.13 | protein_coding | 2690 | chr16 | TogoVar | ||||||
SEPTIN2_chr2_241310925_241359027 | 241355935 | GCCCAGCG others(30): Show |
G | downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0267 | 1 | 408 | 0.0025 | -37 | c.*39 others(48): Show |
SEPTIN2 | ENSG00000168385.18 | transcript | ENST00000391971.7 | protein_coding | 1909 | chr2 | TogoVar | ||||||
SERPINA11_chr14_94437464_94457800 | 94449390 | CTCTTTCT others(30): Show |
C | intron_variant | MODIFIER | NA19065.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0064 | 1 | 452 | 0.0022 | -37 | c.-3- others(50): Show |
SERPINA11 | ENSG00000186910.4 | transcript | ENST00000334708.4 | protein_coding | 1/4 | chr14 | TogoVar | ||||||
SERPINA9_chr14_94457721_94481197 | 94476281 | AAGACATG others(30): Show |
A | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02559.hp2 |
a0002a0007 | a0002c0001a0007c0007 | a0002c0001t0001a0007c0007t0001 | a0002c0001t0001g0317a0007c0007t0001g0320 | 2 | 466 | 0.0043 | -37 | c.-20 others(46): Show |
SERPINA9 | ENSG00000170054.16 | transcript | ENST00000674397.2 | protein_coding | 85 | chr14 | TogoVar | ||||||
SERPINE1_chr7_101122104_101144247 | 101124074 | GACAGATT others(30): Show |
G | upstream_gene_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 436 | 0.0023 | -37 | c.-31 others(48): Show |
SERPINE1 | ENSG00000106366.9 | transcript | ENST00000223095.5 | protein_coding | 3029 | chr7 | TogoVar | ||||||
SERPINF2_chr17_1737871_1760265 | 1754709 | AGGGCAGG others(30): Show |
A | 3_prime_UTR_variant | MODIFIER | NA19078.hp1 | a0003 | a0003c0003 | a0003c0003t0019 | a0003c0003t0019g0124 | 1 | 445 | 0.0023 | -37 | c.*17 others(46): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 10/10 | 176 | chr17 | TogoVar | |||||
SETD6_chr16_58510517_58528842 | 58521187 | CGATTTCT others(30): Show |
C | 3_prime_UTR_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0002 | 1 | 426 | 0.0024 | -37 | c.*21 others(48): Show |
SETD6 | ENSG00000103037.12 | transcript | ENST00000219315.9 | protein_coding | 8/8 | 2159 | chr16 | TogoVar | |||||
SETMAR_chr3_4298369_4322265 | 4318072 | CGAGTTAA others(30): Show |
C | downstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 448 | 0.0022 | -37 | c.*82 others(46): Show |
SETMAR | ENSG00000170364.13 | transcript | ENST00000358065.5 | protein_coding | 808 | chr3 | TogoVar | ||||||
SFXN1_chr5_175473560_175534742 | 175524118 | AAAAAAAA others(30): Show |
A | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0222 | 1 | 372 | 0.0027 | -37 | c.872 others(54): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SGCE_chr7_94579980_94661133 | 94659438 | GAAAAGCT others(30): Show |
G | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01106.hp1 HG01123.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100a0001c0001t0001g0101a0001c0001t0001g0102others(14): Show | 17 | 390 | 0.0436 | -37 | c.-33 others(48): Show |
SGCE | ENSG00000127990.19 | transcript | ENST00000648936.2 | protein_coding | 3306 | chr7 | TogoVar | ||||||
SGK1_chr6_134164256_134323112 | 134301524 | TTCTCTTT others(30): Show |
T | intron_variant | MODIFIER | HG02895.hp1 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240a0001c0001t0001g0242 | 2 | 250 | 0.0080 | -37 | c.69+ others(54): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 1/13 | chr6 | TogoVar | ||||||
SH2B2_chr7_102281868_102326711 | 102322133 | TGAAGCCT others(30): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(134): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0001c0018others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0093others(132): Show | 137 | 406 | 0.3374 | -37 | c.*50 others(46): Show |
SH2B2 | ENSG00000160999.11 | transcript | ENST00000444095.3 | protein_coding | 423 | chr7 | TogoVar | ||||||
SH2D4B_chr10_80532902_80651560 | 80534388 | AGCCACCC others(30): Show |
A | upstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0010 | a0001c0010t0019 | a0001c0010t0019g0021 | 1 | 322 | 0.0031 | -37 | c.-39 others(48): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 3513 | chr10 | TogoVar | ||||||
SH3D19_chr4_151115281_151330605 | 151215026 | CCAGACGG others(30): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG03041.hp1 HG03225.hp2 others(2): Show |
a0007 | a0007c0008 | a0007c0008t0001a0007c0008t0006 | a0007c0008t0001g0132a0007c0008t0001g0242a0007c0008t0001g0243others(2): Show | 5 | 282 | 0.0177 | -37 | c.152 others(56): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 2/19 | chr4 | TogoVar | ||||||
SH3PXD2B_chr5_172328499_172459525 | 172348617 | TCTATCTA others(30): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0220 | 1 | 280 | 0.0036 | -37 | c.101 others(56): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 10/12 | chr5 | TogoVar | ||||||
SH3PXD2B_chr5_172328499_172459525 | 172348626 | GTATCTAT others(30): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0235a0001c0001t0003g0253 | 2 | 280 | 0.0071 | -37 | c.101 others(56): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 10/12 | chr5 | TogoVar | ||||||
SH3PXD2B_chr5_172328499_172459525 | 172348638 | GTATCTAT others(30): Show |
G | intron_variant | MODIFIER | HG00140.hp2 NA20300.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0104a0001c0002t0002g0123 | 2 | 280 | 0.0071 | -37 | c.101 others(56): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 10/12 | chr5 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 413008 | ACATCCTG others(30): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(105): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0044others(101): Show | 108 | 212 | 0.5094 | -37 | c.*42 others(48): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 3580 | chr19 | TogoVar | ||||||
SHCBP1L_chr1_182894865_182958166 | 182952178 | AAAAAAAA others(30): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 302 | 0.0033 | -37 | c.405 others(52): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
SHCBP1L_chr1_182894865_182958166 | 182952180 | AAAAAAAA others(30): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02717.hp2 HG03225.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0287a0001c0003t0001g0288a0001c0003t0001g0289 | 3 | 302 | 0.0099 | -37 | c.405 others(52): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
SHCBP1L_chr1_182894865_182958166 | 182952182 | AAAAAAAA others(30): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01884.hp1 HG03540.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0065a0001c0003t0001g0070a0001c0003t0001g0071others(1): Show | 4 | 302 | 0.0133 | -37 | c.405 others(52): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
SHISA7_chr19_55423740_55448300 | 55438003 | GCAGCCCC others(30): Show |
G | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0159 | 1 | 372 | 0.0027 | -37 | c.827 others(52): Show |
SHISA7 | ENSG00000187902.13 | transcript | ENST00000376325.10 | protein_coding | 2/3 | chr19 | TogoVar | ||||||
SHMT1_chr17_18322873_18368550 | 18338452 | GCCTCTGC others(30): Show |
G | intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 220 | 0.0046 | -37 | c.814 others(54): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | TogoVar | ||||||
SHOX_chrX_625791_656584 | 636369 | TATACAAA others(30): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0193 | a0001c0001t0193g0075 | 1 | 220 | 0.0046 | -37 | c.486 others(54): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SHROOM4_chrX_50581796_50819194 | 50795132 | ATATATAT others(30): Show |
A | intron_variant | MODIFIER | NA18959.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0091 | 1 | 175 | 0.0057 | -37 | c.117 others(56): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 1/8 | chrX | TogoVar | ||||||
SHTN1_chr10_116876477_117010187 | 116963035 | GTTTTTTT others(30): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01884.hp1 HG02559.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0016a0001c0002t0026a0001c0002t0042 | a0001c0002t0016g0140a0001c0002t0016g0141a0001c0002t0026g0143others(2): Show | 5 | 292 | 0.0171 | -37 | c.173 others(54): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 3/16 | chr10 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 402246 | CCCCGACC others(30): Show |
C | downstream_gene_variant | MODIFIER | HG01175.hp2 HG02145.hp1 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0169a0001c0001t0001g0187 | 3 | 242 | 0.0124 | -37 | c.*36 others(48): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3469 | chr11 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 410738 | GCAGTCGG others(30): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG03540.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0004g0238 | 3 | 242 | 0.0124 | -37 | c.-15 others(54): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 411439 | GGTGCCCA others(30): Show |
G | intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 242 | 0.0041 | -37 | c.-15 others(56): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 412525 | GGGGGGGT others(30): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00609.hp1 others(30): Show |
a0001a0006a0008 | a0001c0001a0006c0011a0008c0010 | a0001c0001t0001a0006c0011t0001a0008c0010t0001 | a0001c0001t0001g0099a0001c0001t0001g0113a0001c0001t0001g0119others(30): Show | 33 | 242 | 0.1364 | -37 | c.-15 others(56): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
SIRPA_chr20_1890407_1945592 | 1923614 | CAGGTTTT others(30): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(86): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0010a0001c0001t0002g0005a0001c0001t0002g0036others(81): Show | 89 | 418 | 0.2129 | -37 | c.108 others(56): Show |
SIRPA | ENSG00000198053.12 | transcript | ENST00000358771.5 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SIRPA_chr20_1890407_1945592 | 1943571 | TTCAGCCC others(30): Show |
T | downstream_gene_variant | MODIFIER | NA19063.hp2 | a0002 | a0002c0002 | a0002c0002t0049 | a0002c0002t0049g0136 | 1 | 418 | 0.0024 | -37 | c.*60 others(48): Show |
SIRPA | ENSG00000198053.12 | transcript | ENST00000358771.5 | protein_coding | 2980 | chr20 | TogoVar | ||||||
SKAP2_chr7_26662068_26869590 | 26867553 | AAATATAT others(30): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp2 HG03540.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0226a0001c0001t0006g0227a0001c0001t0006g0234 | 3 | 296 | 0.0101 | -37 | c.-31 others(48): Show |
SKAP2 | ENSG00000005020.13 | transcript | ENST00000345317.7 | protein_coding | 2964 | chr7 | TogoVar | ||||||
SKP2_chr5_36147111_36189319 | 36175730 | TATCCTAG others(30): Show |
T | intron_variant | MODIFIER | NA18947.hp1 NA18948.hp2 NA18968.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0124a0001c0001t0004g0019 | 4 | 402 | 0.0100 | -37 | c.902 others(54): Show |
SKP2 | ENSG00000145604.17 | transcript | ENST00000274255.11 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SLA2_chr20_36607318_36651196 | 36609194 | CGCACACA others(30): Show |
C | downstream_gene_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0243 | 1 | 360 | 0.0028 | -37 | c.*46 others(48): Show |
SLA2 | ENSG00000101082.14 | transcript | ENST00000262866.9 | protein_coding | 3123 | chr20 | TogoVar | ||||||
SLAIN2_chr4_48336529_48431201 | 48362586 | ATTTTTTT others(30): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG01074.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0029a0001c0002t0005a0001c0002t0009others(5): Show | a0001c0001t0029g0163a0001c0002t0005g0005a0001c0002t0005g0173others(22): Show | 26 | 348 | 0.0747 | -37 | c.390 others(54): Show |
SLAIN2 | ENSG00000109171.15 | transcript | ENST00000264313.11 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |