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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SUPT20HL1_chrX_24355639_24372839 | 24360492 | T | TACACACA others(17): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG01891.hp2 HG02155.hp2 others(3): Show |
a0002 | a0002c0002a0002c0024 | a0002c0002t0003a0002c0024t0003 | a0002c0002t0003g0000 a0002c0024t0003g0000 |
6 | 219 | 0.0274 | 24 | c.-22 others(35): Show |
SUPT20HL1 | ENSG00000223731.4 | transcript | ENST00000686983.1 | protein_coding | 146 | chrX | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 44928882 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02683.hp1 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 a0001c0001t0001g0237 |
2 | 107 | 0.0187 | 24 | c.912 others(41): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 10/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45120417 | T | TAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0180 | 1 | 5 | 0.2000 | 24 | c.102 others(43): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45158298 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0014 | 1 | 65 | 0.0154 | 24 | c.102 others(43): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45204250 | A | AAAGAAGA others(17): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0077 a0001c0001t0001g0095 a0001c0001t0001g0193 others(30): Show |
33 | 39 | 0.8462 | 24 | c.102 others(43): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45230660 | G | GCCTATAT others(17): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01993.hp1 HG02683.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0083 others(4): Show |
7 | 127 | 0.0551 | 24 | c.102 others(45): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45253848 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01074.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0078 others(14): Show |
17 | 44 | 0.3864 | 24 | c.101 others(45): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SUPT6H_chr17_28657205_28707679 | 28663828 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | HG03453.hp2 HG03471.hp1 HG03540.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0008 a0001c0004t0001g0202 |
3 | 5 | 0.6000 | 24 | c.-32 others(41): Show |
SUPT6H | ENSG00000109111.15 | transcript | ENST00000314616.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SUPV3L1_chr10_69175234_69214093 | 69184616 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 64 | 0.0156 | 24 | c.272 others(41): Show |
SUPV3L1 | ENSG00000156502.14 | transcript | ENST00000359655.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SUSD1_chr9_112035783_112180297 | 112165922 | A | AAAAAGAA others(17): Show |
intron_variant | MODIFIER | HG02145.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0005 a0001c0001t0006g0072 |
2 | 234 | 0.0085 | 24 | c.104 others(41): Show |
SUSD1 | ENSG00000106868.17 | transcript | ENST00000374270.8 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
SUSD1_chr9_112035783_112180297 | 112165942 | G | GAAGAAAG others(17): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01433.hp1 HG01496.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0272 a0001c0001t0001g0329 a0001c0001t0002g0268 others(6): Show |
9 | 55 | 0.1636 | 24 | c.104 others(41): Show |
SUSD1 | ENSG00000106868.17 | transcript | ENST00000374270.8 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
SUSD1_chr9_112035783_112180297 | 112165942 | G | GAAGAAAG others(17): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03540.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0005t0005 | a0001c0001t0003g0068 a0001c0005t0005g0065 |
2 | 48 | 0.0417 | 24 | c.104 others(41): Show |
SUSD1 | ENSG00000106868.17 | transcript | ENST00000374270.8 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
SUSD1_chr9_112035783_112180297 | 112176553 | T | TAGATAGA others(17): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0323 | 1 | 17 | 0.0588 | 24 | c.-13 others(35): Show |
SUSD1 | ENSG00000106868.17 | transcript | ENST00000374270.8 | protein_coding | 1257 | chr9 | TogoVar | |||||||
SUSD4_chr1_223215831_223369176 | 223268011 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02818.hp1 NA18955.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0002c0002t0001a0003c0004t0001 | a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0206 others(2): Show |
5 | 103 | 0.0485 | 24 | c.535 others(39): Show |
SUSD4 | ENSG00000143502.16 | transcript | ENST00000366878.9 | protein_coding | 4/8 | chr1 | TogoVar | |||||||
SUSD4_chr1_223215831_223369176 | 223268013 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | NA18960.hp1 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 a0001c0001t0001g0101 |
2 | 14 | 0.1429 | 24 | c.535 others(39): Show |
SUSD4 | ENSG00000143502.16 | transcript | ENST00000366878.9 | protein_coding | 4/8 | chr1 | TogoVar | |||||||
SUSD5_chr3_33145043_33223810 | 33183930 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02818.hp2 others(1): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0009a0002c0004t0006 | a0002c0002t0009g0251 a0002c0004t0006g0147 a0002c0004t0006g0150 others(1): Show |
4 | 31 | 0.1290 | 24 | c.410 others(41): Show |
SUSD5 | ENSG00000173705.9 | transcript | ENST00000309558.8 | protein_coding | 3/4 | chr3 | TogoVar | |||||||
SUSD6_chr14_69606596_69720144 | 69654790 | G | GGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0248 | 1 | 83 | 0.0120 | 24 | c.-80 others(41): Show |
SUSD6 | ENSG00000100647.8 | transcript | ENST00000342745.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SV2B_chr15_91095257_91307565 | 91107297 | G | GTTTGTTT others(17): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0026 | 1 | 87 | 0.0115 | 24 | c.-39 others(43): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SV2B_chr15_91095257_91307565 | 91107297 | G | GTTTGTTT others(17): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0163 | 1 | 87 | 0.0115 | 24 | c.-39 others(43): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SV2B_chr15_91095257_91307565 | 91107297 | G | GTTTGTTT others(17): Show |
intron_variant | MODIFIER | HG03195.hp2 NA20300.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0004a0001c0004t0052 | a0001c0003t0004g0046 a0001c0004t0052g0005 |
2 | 88 | 0.0227 | 24 | c.-39 others(43): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SV2B_chr15_91095257_91307565 | 91125781 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0046 | 1 | 133 | 0.0075 | 24 | c.-39 others(45): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SV2B_chr15_91095257_91307565 | 91168301 | C | CGAGAGAG others(17): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0047 | 1 | 85 | 0.0118 | 24 | c.-39 others(45): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SV2B_chr15_91095257_91307565 | 91221691 | G | GTGCACGC others(17): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0041 | 1 | 138 | 0.0072 | 24 | c.-39 others(43): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 1/12 | chr15 | TogoVar | |||||||
SV2B_chr15_91095257_91307565 | 91283864 | T | TGACATGG others(17): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01109.hp1 HG01123.hp2 others(30): Show |
a0001a0004 | a0001c0002a0001c0007a0001c0018others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0009others(14): Show | a0001c0002t0001g0095 a0001c0002t0001g0101 a0001c0002t0002g0175 others(30): Show |
33 | 212 | 0.1557 | 24 | c.150 others(41): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SV2C_chr5_76078383_76338956 | 76197707 | C | CAGATAGA others(17): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00558.hp2 others(84): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(71): Show | a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0059 others(84): Show |
87 | 89 | 0.9775 | 24 | c.761 others(41): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SVEP1_chr9_110360248_110584741 | 110390215 | T | TTGTATAT others(17): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02559.hp1 HG02615.hp2 others(1): Show |
a0066a0081a0082others(1): Show | a0066c0135a0081c0081a0082c0103others(1): Show | a0066c0135t0001a0081c0081t0004a0082c0103t0005others(1): Show | a0066c0135t0001g0061 a0081c0081t0004g0124 a0082c0103t0005g0077 others(1): Show |
4 | 360 | 0.0111 | 24 | c.982 others(41): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 40/47 | chr9 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110390275 | T | TTATATAA others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00738.hp1 others(72): Show |
a0001a0002a0004others(36): Show | a0001c0120a0001c0123a0001c0162others(43): Show | a0001c0120t0009a0001c0123t0004a0001c0162t0006others(48): Show | a0001c0120t0009g0108 a0001c0123t0004g0021 a0001c0162t0006g0007 others(72): Show |
75 | 279 | 0.2688 | 24 | c.982 others(41): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 40/47 | chr9 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110392133 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0108 | a0108c0154 | a0108c0154t0003 | a0108c0154t0003g0360 | 1 | 217 | 0.0046 | 24 | c.982 others(43): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 40/47 | chr9 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110392133 | T | TTTTATAT others(17): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01952.hp1 HG02004.hp2 others(7): Show |
a0001a0002a0005others(4): Show | a0001c0002a0001c0122a0002c0001others(7): Show | a0001c0002t0002a0001c0122t0002a0002c0001t0002others(7): Show | a0001c0002t0002g0273 a0001c0122t0002g0246 a0002c0001t0002g0214 others(7): Show |
10 | 226 | 0.0442 | 24 | c.982 others(43): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 40/47 | chr9 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110466760 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0083 | a0083c0098 | a0083c0098t0001 | a0083c0098t0001g0098 | 1 | 29 | 0.0345 | 24 | c.316 others(41): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 17/47 | chr9 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110528156 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0063 | a0063c0146 | a0063c0146t0004 | a0063c0146t0004g0051 | 1 | 120 | 0.0083 | 24 | c.965 others(43): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 3/47 | chr9 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110570467 | C | CGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0072 | 1 | 62 | 0.0161 | 24 | c.531 others(41): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 1/47 | chr9 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110572789 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0180 | 1 | 52 | 0.0192 | 24 | c.531 others(41): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 1/47 | chr9 | TogoVar | |||||||
SVIL_chr10_29452338_29639971 | 29509330 | G | GGAGAGAG others(17): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0033 | 1 | 73 | 0.0137 | 24 | c.351 others(43): Show |
SVIL | ENSG00000197321.16 | transcript | ENST00000355867.9 | protein_coding | 17/37 | chr10 | TogoVar | |||||||
SVIL_chr10_29452338_29639971 | 29509330 | G | GGAGGGAG others(17): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0003 | a0003c0010 | a0003c0010t0001 | a0003c0010t0001g0172 | 1 | 73 | 0.0137 | 24 | c.351 others(43): Show |
SVIL | ENSG00000197321.16 | transcript | ENST00000355867.9 | protein_coding | 17/37 | chr10 | TogoVar | |||||||
SVIP_chr11_22813927_22834801 | 22833271 | T | TGTGTCTT others(17): Show |
upstream_gene_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 428 | 0.0023 | 24 | c.-35 others(35): Show |
SVIP | ENSG00000198168.9 | transcript | ENST00000354193.5 | protein_coding | 3471 | chr11 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138631960 | T | TCACACAC others(17): Show |
intron_variant | MODIFIER | HG03209.hp1 NA18943.hp2 NA19009.hp1 |
a0001a0011 | a0001c0001a0011c0021 | a0001c0001t0001a0011c0021t0002 | a0001c0001t0001g0172 a0001c0001t0001g0182 a0011c0021t0002g0262 |
3 | 199 | 0.0151 | 24 | c.790 others(41): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 9/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138631960 | T | TCTCTCTC others(17): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 a0001c0001t0001g0331 |
2 | 198 | 0.0101 | 24 | c.790 others(41): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 9/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138642831 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03516.hp1 NA18979.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0043 a0001c0001t0001g0323 a0002c0004t0001g0065 |
3 | 305 | 0.0098 | 24 | c.789 others(41): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 9/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138693529 | A | AAAAGAAA others(17): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 62 | 0.0161 | 24 | c.-35 others(41): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
SVOP_chr12_108902741_109026068 | 108903287 | G | GAGAAAGG others(17): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG01071.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0006a0001c0001t0017others(7): Show | a0001c0001t0003g0046 a0001c0001t0006g0161 a0001c0001t0006g0193 others(13): Show |
17 | 122 | 0.1393 | 24 | c.*92 others(35): Show |
SVOP | ENSG00000166111.10 | transcript | ENST00000610966.5 | protein_coding | 4453 | chr12 | TogoVar | |||||||
SVOP_chr12_108902741_109026068 | 108903287 | G | GAGGAAGG others(17): Show |
downstream_gene_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02615.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0052a0001c0002t0033 | a0001c0001t0008g0238 a0001c0001t0008g0239 a0001c0001t0052g0255 others(1): Show |
4 | 109 | 0.0367 | 24 | c.*92 others(35): Show |
SVOP | ENSG00000166111.10 | transcript | ENST00000610966.5 | protein_coding | 4453 | chr12 | TogoVar | |||||||
SWAP70_chr11_9659077_9757993 | 9671501 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0258 | 1 | 281 | 0.0036 | 24 | c.99+ others(39): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9671552 | A | ATATATTT others(17): Show |
intron_variant | MODIFIER | HG01099.hp2 HG03942.hp2 |
a0002 | a0002c0004a0002c0009 | a0002c0004t0001a0002c0009t0029 | a0002c0004t0001g0119 a0002c0009t0029g0120 |
2 | 291 | 0.0069 | 24 | c.99+ others(39): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9725569 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0032 | a0001c0002t0032g0067 | 1 | 236 | 0.0042 | 24 | c.642 others(39): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9725569 | A | ATATATTT others(17): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0094 | 1 | 236 | 0.0042 | 24 | c.642 others(39): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWT1_chr1_185152167_185296781 | 185228167 | G | GTATGTAT others(17): Show |
intron_variant | MODIFIER | NA18964.hp2 NA19072.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0279 a0001c0001t0002g0282 |
2 | 228 | 0.0088 | 24 | c.231 others(43): Show |
SWT1 | ENSG00000116668.13 | transcript | ENST00000367500.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SYBU_chr8_109568978_109649822 | 109645626 | G | GTTTTTTT others(17): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 277 | 0.0036 | 24 | c.-96 others(33): Show |
SYBU | ENSG00000147642.17 | transcript | ENST00000276646.14 | protein_coding | 805 | chr8 | TogoVar | |||||||
SYCE1L_chr16_77194408_77218215 | 77200232 | G | GTGTCTAT others(17): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0006 | a0006c0008 | a0006c0008t0008 | a0006c0008t0008g0060 | 1 | 426 | 0.0023 | 24 | c.61+ others(37): Show |
SYCE1L | ENSG00000205078.6 | transcript | ENST00000378644.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SYCE1L_chr16_77194408_77218215 | 77200274 | G | GTGTATAT others(17): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0152 | 1 | 260 | 0.0038 | 24 | c.61+ others(37): Show |
SYCE1L | ENSG00000205078.6 | transcript | ENST00000378644.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |