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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCT_chr11_621309_632181 | 627958 | TGTTCACA others(24): Show |
T | upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 403 | 0.0025 | -31 | c.-84 others(40): Show |
SCT | ENSG00000070031.4 | transcript | ENST00000176195.4 | protein_coding | 778 | chr11 | TogoVar | |||||||
SCT_chr11_621309_632181 | 628902 | TTTCTTTC others(24): Show |
T | upstream_gene_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 410 | 0.0024 | -31 | c.-17 others(42): Show |
SCT | ENSG00000070031.4 | transcript | ENST00000176195.4 | protein_coding | 1722 | chr11 | TogoVar | |||||||
SCYL1_chr11_65520083_65543704 | 65542034 | CCACCCTC others(24): Show |
C | downstream_gene_variant | MODIFIER | HG01256.hp2 HG01361.hp1 HG01978.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0017 a0003c0005t0001g0017 |
3 | 276 | 0.0109 | -31 | c.*34 others(42): Show |
SCYL1 | ENSG00000142186.18 | transcript | ENST00000270176.10 | protein_coding | 3331 | chr11 | TogoVar | |||||||
SDHAF3_chr7_97112698_97186763 | 97154149 | AATTACAA others(24): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00609.hp2 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(68): Show |
74 | 400 | 0.1850 | -31 | c.175 others(50): Show |
SDHAF3 | ENSG00000196636.8 | transcript | ENST00000432641.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 260171 | CCCGTCAG others(24): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp1 HG01071.hp1 HG01943.hp2 others(8): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0004a0003c0006t0001 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0018 others(7): Show |
11 | 258 | 0.0426 | -31 | c.*37 others(42): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 3090 | chr5 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3954417 | ACCCTCCC others(24): Show |
A | intron_variant | MODIFIER | HG00408.hp1 | a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0070 | 1 | 116 | 0.0086 | -31 | c.115 others(50): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 7/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73582191 | ACACACCA others(24): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00733.hp1 others(54): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0003a0001c0005others(40): Show | a0001c0002t0001a0001c0002t0010a0001c0002t0065others(54): Show | a0001c0002t0001g0139 a0001c0002t0010g0184 a0001c0002t0065g0177 others(54): Show |
57 | 200 | 0.2850 | -31 | c.64+ others(48): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 1/44 | chr17 | TogoVar | |||||||
SDS_chr12_113387445_113408887 | 113390219 | TATCCATT others(24): Show |
T | downstream_gene_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 342 | 0.0029 | -31 | c.*26 others(42): Show |
SDS | ENSG00000135094.11 | transcript | ENST00000257549.9 | protein_coding | 2225 | chr12 | TogoVar | |||||||
SEC11A_chr15_84664544_84721139 | 84700593 | CAAAAAAA others(24): Show |
C | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 8 | 0.1250 | -31 | c.52- others(46): Show |
SEC11A | ENSG00000140612.14 | transcript | ENST00000268220.12 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
SEC23IP_chr10_119887730_119949657 | 119948111 | AGGAGGCT others(24): Show |
A | downstream_gene_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 398 | 0.0025 | -31 | c.*75 others(42): Show |
SEC23IP | ENSG00000107651.15 | transcript | ENST00000369075.8 | protein_coding | 3455 | chr10 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82892076 | TCTTCTGT others(24): Show |
T | upstream_gene_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0305 | 1 | 326 | 0.0031 | -31 | c.-10 others(41): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 924 | chr4 | TogoVar | |||||||
SECTM1_chr17_82316024_82338766 | 82319475 | TGTGTGTG others(24): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02630.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0064 a0001c0001t0001g0083 |
4 | 372 | 0.0108 | -31 | c.*26 others(42): Show |
SECTM1 | ENSG00000141574.8 | transcript | ENST00000269389.8 | protein_coding | 1548 | chr17 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83425029 | CATTTTGG others(24): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0003 | a0003c0009 | a0003c0009t0032 | a0003c0009t0032g0013 | 1 | 224 | 0.0045 | -31 | c.457 others(48): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 4/16 | chr7 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9131628 | AAAAAAAA others(24): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0006 | a0001c0006t0044 | a0001c0006t0044g0009 | 1 | 132 | 0.0076 | -31 | c.159 others(50): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 13/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9164071 | AATTTATA others(24): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(77): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0018 others(77): Show |
80 | 99 | 0.8081 | -31 | c.127 others(50): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 11/22 | chr5 | TogoVar | |||||||
SEMA6A_chr5_116438555_116579823 | 116574012 | GGGCTCAC others(24): Show |
G | intron_variant | MODIFIER | HG02055.hp1 NA19030.hp1 NA19030.hp2 |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0003a0001c0001t0057a0008c0009t0004 | a0001c0001t0003g0006 a0001c0001t0057g0005 a0008c0009t0004g0007 |
3 | 302 | 0.0099 | -31 | c.-39 others(46): Show |
SEMA6A | ENSG00000092421.17 | transcript | ENST00000343348.11 | protein_coding | 1/18 | chr5 | TogoVar | |||||||
SEMG1_chr20_45202033_45214768 | 45210352 | TCCAGAGA others(24): Show |
T | downstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 406 | 0.0025 | -31 | c.*79 others(40): Show |
SEMG1 | ENSG00000124233.12 | transcript | ENST00000372781.4 | protein_coding | 585 | chr20 | TogoVar | |||||||
SERGEF_chr11_17783048_18018047 | 17872268 | GTTCTATA others(24): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0002c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(14): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 others(215): Show |
219 | 224 | 0.9777 | -31 | c.104 others(50): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 10/10 | chr11 | TogoVar | |||||||
SERINC5_chr5_80133727_80261048 | 80203706 | AAACTTCT others(24): Show |
A | intron_variant | MODIFIER | HG03195.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0050 a0001c0001t0026g0051 |
2 | 284 | 0.0070 | -31 | c.28- others(44): Show |
SERINC5 | ENSG00000164300.17 | transcript | ENST00000507668.7 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
SERPINB5_chr18_63471958_63510085 | 63495331 | GACTTTAC others(24): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01099.hp2 HG01257.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0039 a0001c0001t0001g0167 others(4): Show |
13 | 407 | 0.0319 | -31 | c.567 others(48): Show |
SERPINB5 | ENSG00000206075.14 | transcript | ENST00000382771.9 | protein_coding | 5/6 | chr18 | TogoVar | |||||||
SERPINB9_chr6_2882270_2908309 | 2907652 | GTGTGTGT others(24): Show |
G | upstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0131 | a0001c0001t0131g0132 | 1 | 460 | 0.0022 | -31 | c.-44 others(42): Show |
SERPINB9 | ENSG00000170542.6 | transcript | ENST00000380698.5 | protein_coding | 4344 | chr6 | TogoVar | |||||||
SERPINB9_chr6_2882270_2908309 | 2907749 | GTGTGTGT others(24): Show |
G | upstream_gene_variant | MODIFIER | HG02572.hp2 HG02965.hp2 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0041a0001c0001t0124 | a0001c0001t0031g0233 a0001c0001t0041g0119 a0001c0001t0124g0262 |
3 | 460 | 0.0065 | -31 | c.-45 others(42): Show |
SERPINB9 | ENSG00000170542.6 | transcript | ENST00000380698.5 | protein_coding | 4441 | chr6 | TogoVar | |||||||
SERPINE1_chr7_101122104_101144247 | 101143515 | GAGAAAGA others(24): Show |
G | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG01074.hp2 others(12): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0101 others(9): Show |
15 | 234 | 0.0641 | -31 | c.*60 others(42): Show |
SERPINE1 | ENSG00000106366.9 | transcript | ENST00000223095.5 | protein_coding | 4269 | chr7 | TogoVar | |||||||
SERPINE1_chr7_101122104_101144247 | 101143527 | GAGAAAGA others(24): Show |
G | downstream_gene_variant | MODIFIER | HG01361.hp1 HG03239.hp2 NA18951.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0002a0003c0002t0002 | a0001c0001t0002g0099 a0003c0002t0002g0013 a0003c0002t0002g0231 others(2): Show |
6 | 283 | 0.0212 | -31 | c.*60 others(42): Show |
SERPINE1 | ENSG00000106366.9 | transcript | ENST00000223095.5 | protein_coding | 4281 | chr7 | TogoVar | |||||||
SERPINE2_chr2_223970045_224044286 | 223998750 | GCTATGAG others(24): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG02056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 a0001c0001t0001g0116 |
2 | 372 | 0.0054 | -31 | c.260 others(46): Show |
SERPINE2 | ENSG00000135919.14 | transcript | ENST00000409304.6 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
SEZ6L2_chr16_29866159_29904550 | 29903247 | TCGGGAGG others(24): Show |
T | upstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0114 | 1 | 306 | 0.0033 | -31 | c.-42 others(42): Show |
SEZ6L2 | ENSG00000174938.15 | transcript | ENST00000617533.5 | protein_coding | 3698 | chr16 | TogoVar | |||||||
SEZ6L_chr22_26164462_26388596 | 26304361 | AAAAGAAA others(24): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0016 | 1 | 231 | 0.0043 | -31 | c.134 others(50): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFMBT2_chr10_7153624_7416034 | 7228713 | TTCTTTCT others(24): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0041 | 1 | 142 | 0.0070 | -31 | c.112 others(48): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 9/20 | chr10 | TogoVar | |||||||
SFXN1_chr5_175473560_175534742 | 175524114 | AAAAAAAA others(24): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0226 | 1 | 370 | 0.0027 | -31 | c.872 others(48): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SFXN1_chr5_175473560_175534742 | 175524116 | AAAAAAAA others(24): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01167.hp2 HG01243.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002a0001c0002t0006others(1): Show | a0001c0001t0002g0169 a0001c0002t0002g0001 a0001c0002t0002g0008 others(29): Show |
34 | 367 | 0.0926 | -31 | c.872 others(48): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SFXN1_chr5_175473560_175534742 | 175524118 | AAAAAAAA others(24): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00621.hp1 others(45): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0005c0008others(1): Show | a0001c0001t0014a0001c0002t0002a0001c0002t0006others(11): Show | a0001c0001t0014g0186 a0001c0001t0014g0187 a0001c0001t0014g0188 others(40): Show |
48 | 357 | 0.1345 | -31 | c.872 others(48): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SFXN1_chr5_175473560_175534742 | 175524120 | AAAAAAAT others(24): Show |
A | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0067 | 1 | 348 | 0.0029 | -31 | c.872 others(48): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66660119 | GGAAAGAA others(24): Show |
G | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 HG03209.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0019a0001c0004t0001others(1): Show | a0001c0001t0001g0163 a0001c0001t0001g0203 a0001c0001t0019g0093 others(3): Show |
6 | 289 | 0.0208 | -31 | c.460 others(46): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGK1_chr6_134164256_134323112 | 134206359 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG02976.hp2 NA19078.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 a0001c0001t0001g0199 |
2 | 185 | 0.0108 | -31 | c.361 others(46): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 3/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134206361 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0138 | 1 | 240 | 0.0042 | -31 | c.361 others(46): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 3/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134206363 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG03492.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0119 a0001c0002t0002g0126 |
2 | 240 | 0.0083 | -31 | c.361 others(46): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 3/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134314167 | AATCCAAA others(24): Show |
A | intron_variant | MODIFIER | HG01993.hp1 HG02015.hp1 HG02071.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0014a0001c0002t0001 | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(5): Show |
8 | 248 | 0.0323 | -31 | c.69+ others(46): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 1/13 | chr6 | TogoVar | |||||||
SH2D1A_chrX_124341563_124378160 | 124350370 | AATATATA others(24): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG01070.hp2 HG01123.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(15): Show |
23 | 290 | 0.0793 | -31 | c.137 others(48): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH3GLB2_chr9_129002036_129033331 | 129032569 | GTGGCAAA others(24): Show |
G | upstream_gene_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0301 | 1 | 434 | 0.0023 | -31 | c.-44 others(42): Show |
SH3GLB2 | ENSG00000148341.18 | transcript | ENST00000372564.8 | protein_coding | 4239 | chr9 | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19774655 | AAAGAAAG others(24): Show |
A | intron_variant | MODIFIER | HG02293.hp2 HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0007g0044 |
3 | 173 | 0.0173 | -31 | c.163 others(50): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | |||||||
SH3RF2_chr5_145931578_146068292 | 146064674 | GAAAGAAA others(24): Show |
G | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02630.hp1 |
a0005 | a0005c0004 | a0005c0004t0002 | a0005c0004t0002g0200 a0005c0004t0002g0201 |
2 | 263 | 0.0076 | -31 | c.*19 others(42): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 1383 | chr5 | TogoVar | |||||||
SH3RF2_chr5_145931578_146068292 | 146064714 | GAAAGAAA others(24): Show |
G | downstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 268 | 0.0037 | -31 | c.*20 others(42): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 1423 | chr5 | TogoVar | |||||||
SH3TC1_chr4_8194290_8246103 | 8233979 | CATCCATC others(24): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(84): Show |
a0001a0002a0011others(11): Show | a0001c0008a0001c0009a0002c0003others(19): Show | a0001c0008t0001a0001c0008t0002a0001c0009t0002others(23): Show | a0001c0008t0001g0113 a0001c0008t0001g0200 a0001c0008t0002g0095 others(83): Show |
87 | 372 | 0.2339 | -31 | c.328 others(48): Show |
SH3TC1 | ENSG00000125089.18 | transcript | ENST00000245105.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SH3TC1_chr4_8194290_8246103 | 8234015 | ATCCATCA others(24): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG03579.hp2 NA19043.hp2 others(1): Show |
a0001a0006 | a0001c0037a0006c0032 | a0001c0037t0003a0006c0032t0001a0006c0032t0002 | a0001c0037t0003g0354 a0001c0037t0003g0356 a0006c0032t0001g0016 others(1): Show |
4 | 372 | 0.0108 | -31 | c.328 others(48): Show |
SH3TC1 | ENSG00000125089.18 | transcript | ENST00000245105.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHC3_chr9_89000771_89183818 | 89028471 | GATATAGA others(24): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(121): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(116): Show |
124 | 186 | 0.6667 | -31 | c.165 others(50): Show |
SHC3 | ENSG00000148082.10 | transcript | ENST00000375835.9 | protein_coding | 11/11 | chr9 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182952178 | AAAAAAAA others(24): Show |
A | intron_variant | MODIFIER | HG01361.hp2 HG01515.hp2 HG02055.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0102 a0001c0001t0001g0126 a0005c0005t0001g0046 others(1): Show |
4 | 295 | 0.0136 | -31 | c.405 others(46): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
SHISA5_chr3_48462876_48509174 | 48475513 | CCCACCCT others(24): Show |
C | intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 288 | 0.0035 | -31 | c.314 others(48): Show |
SHISA5 | ENSG00000164054.17 | transcript | ENST00000296444.7 | protein_coding | 3/5 | chr3 | TogoVar | |||||||
SHISAL1_chr22_44238665_44317951 | 44314534 | AGTTCACC others(24): Show |
A | upstream_gene_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 378 | 0.0026 | -31 | c.-18 others(42): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 1584 | chr22 | TogoVar | |||||||
SHROOM3_chr4_76430229_76788253 | 76735853 | AAAAAAAA others(24): Show |
A | intron_variant | MODIFIER | HG02809.hp2 HG03579.hp1 |
a0005 | a0005c0023a0005c0040 | a0005c0023t0001a0005c0040t0001 | a0005c0023t0001g0033 a0005c0040t0001g0155 |
2 | 211 | 0.0095 | -31 | c.588 others(48): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHTN1_chr10_116876477_117010187 | 116891714 | ATTTTAAT others(24): Show |
A | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0015 | 1 | 290 | 0.0034 | -31 | c.167 others(50): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 16/16 | chr10 | TogoVar |