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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SUGT1_chr13_52647836_52705909 | 52698448 | CTTTTTTT | C | 3_prime_UTR_variant | MODIFIER | HG02559.hp2 HG02615.hp1 HG02630.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0094a0001c0001t0095others(2): Show | a0001c0001t0018g0030 a0001c0001t0018g0145 a0001c0001t0018g0148 others(4): Show |
7 | 17 | 0.4118 | -7 | c.*10 others(20): Show |
SUGT1 | ENSG00000165416.15 | transcript | ENST00000310528.9 | protein_coding | 13/13 | 10627 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SULF1_chr8_69487847_69665912 | 69493452 | CACACACA | C | intron_variant | MODIFIER | HG01069.hp1 HG01243.hp1 HG02109.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0003a0001c0001t0009a0001c0001t0019others(6): Show | a0001c0001t0003g0284 a0001c0001t0009g0282 a0001c0001t0009g0285 others(9): Show |
12 | 289 | 0.0415 | -7 | c.-39 others(24): Show |
SULF1 | ENSG00000137573.14 | transcript | ENST00000402687.9 | protein_coding | 1/22 | chr8 | TogoVar | |||||||
SULF1_chr8_69487847_69665912 | 69649972 | CTTTTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG00639.hp1 others(46): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0031 others(46): Show |
49 | 87 | 0.5632 | -7 | c.258 others(26): Show |
SULF1 | ENSG00000137573.14 | transcript | ENST00000402687.9 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SULF2_chr20_47652406_47790481 | 47656887 | GTTTTTTT | G | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00609.hp1 others(27): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0025others(3): Show | a0001c0001t0002a0001c0001t0008a0001c0002t0002others(4): Show | a0001c0001t0002g0095 a0001c0001t0002g0104 a0001c0001t0002g0142 others(27): Show |
30 | 162 | 0.1852 | -7 | c.*14 others(18): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 518 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47742927 | ATTTTTTT | A | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00597.hp2 others(84): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0021 others(84): Show |
87 | 99 | 0.8788 | -7 | c.176 others(24): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47746995 | ATATATAT | A | intron_variant | MODIFIER | HG02258.hp2 HG02818.hp2 HG04115.hp2 others(1): Show |
a0001a0009 | a0001c0001a0009c0014 | a0001c0001t0001a0001c0001t0007a0009c0014t0001 | a0001c0001t0001g0068 a0001c0001t0001g0329 a0001c0001t0007g0004 others(1): Show |
4 | 320 | 0.0125 | -7 | c.176 others(26): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47758162 | CTTTTTTT | C | intron_variant | MODIFIER | HG01358.hp2 HG02895.hp1 HG02897.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0016 a0001c0001t0001g0349 a0001c0001t0001g0350 others(6): Show |
9 | 180 | 0.0500 | -7 | c.-10 others(24): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 1/20 | chr20 | TogoVar | |||||||
SULT1A1_chr16_28600258_28615044 | 28610264 | GTTTTTTT | G | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01074.hp1 HG01346.hp2 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0007a0001c0004t0004others(4): Show | a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0041 others(8): Show |
31 | 196 | 0.1582 | -7 | c.-34 others(16): Show |
SULT1A1 | ENSG00000196502.15 | transcript | ENST00000314752.12 | protein_coding | 221 | chr16 | TogoVar | |||||||
SULT1C4_chr2_108372954_108393989 | 108382902 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp1 HG01074.hp1 others(135): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0002g0002 others(38): Show |
138 | 267 | 0.5169 | -7 | c.394 others(22): Show |
SULT1C4 | ENSG00000198075.10 | transcript | ENST00000272452.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SULT1E1_chr4_69836212_69865145 | 69839545 | CCTTTAAA | C | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00673.hp2 HG02083.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0037 | 3 | 444 | 0.0068 | -7 | c.*24 others(18): Show |
SULT1E1 | ENSG00000109193.12 | transcript | ENST00000226444.4 | protein_coding | 1666 | chr4 | TogoVar | |||||||
SULT2A1_chr19_47865467_47891315 | 47875158 | CAAAAAAA | C | intron_variant | MODIFIER | HG01069.hp2 HG01168.hp1 HG01257.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 a0001c0001t0001g0123 a0001c0001t0001g0124 others(3): Show |
6 | 10 | 0.6000 | -7 | c.568 others(22): Show |
SULT2A1 | ENSG00000105398.4 | transcript | ENST00000222002.4 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
SULT2B1_chr19_48547172_48604423 | 48581029 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00741.hp2 others(19): Show |
a0001 | a0001c0005a0001c0006a0001c0007others(1): Show | a0001c0005t0001a0001c0006t0001a0001c0007t0001others(1): Show | a0001c0005t0001g0001 a0001c0005t0001g0072 a0001c0005t0001g0109 others(18): Show |
22 | 91 | 0.2418 | -7 | c.214 others(24): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SULT2B1_chr19_48547172_48604423 | 48587890 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(85): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(12): Show | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(85): Show |
88 | 99 | 0.8889 | -7 | c.423 others(22): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SULT2B1_chr19_48547172_48604423 | 48592388 | AGGCCCCT | A | intron_variant | MODIFIER | NA18945.hp2 NA18957.hp2 NA18967.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 a0001c0001t0001g0185 a0001c0001t0001g0186 others(3): Show |
6 | 374 | 0.0160 | -7 | c.551 others(22): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SULT2B1_chr19_48547172_48604423 | 48602705 | ATATATAT | A | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG00673.hp2 others(16): Show |
a0001a0008 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0001a0001c0005t0001a0001c0007t0001others(1): Show | a0001c0001t0001g0118 a0001c0001t0001g0125 a0001c0001t0001g0137 others(16): Show |
19 | 275 | 0.0691 | -7 | c.*33 others(18): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 3283 | chr19 | TogoVar | |||||||
SULT4A1_chr22_43819509_43867513 | 43863249 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(88): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0028a0001c0001t0029 | a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0011 others(59): Show |
91 | 149 | 0.6107 | -7 | c.-87 others(16): Show |
SULT4A1 | ENSG00000130540.14 | transcript | ENST00000330884.9 | protein_coding | 737 | chr22 | TogoVar | |||||||
SULT6B1_chr2_37162820_37193670 | 37185717 | CAAAAAAA | C | intron_variant | MODIFIER | HG01975.hp1 HG01978.hp1 HG01978.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0015 a0002c0002t0001g0046 a0002c0002t0001g0102 others(2): Show |
9 | 154 | 0.0584 | -7 | c.312 others(24): Show |
SULT6B1 | ENSG00000138068.12 | transcript | ENST00000535679.6 | protein_coding | 2/6 | chr2 | TogoVar | |||||||
SUMF2_chr7_56059286_56085670 | 56061668 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00639.hp1 others(47): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0004a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0004g0031 a0001c0002t0001g0012 a0001c0002t0001g0019 others(30): Show |
50 | 232 | 0.2155 | -7 | c.-26 others(18): Show |
SUMF2 | ENSG00000129103.19 | transcript | ENST00000434526.8 | protein_coding | 2617 | chr7 | TogoVar | |||||||
SUMF2_chr7_56059286_56085670 | 56075855 | AGTTTTTT | A | intron_variant | MODIFIER | HG02155.hp1 NA18968.hp1 NA18990.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0014 a0001c0001t0004g0014 a0001c0001t0004g0076 |
5 | 410 | 0.0122 | -7 | c.536 others(22): Show |
SUMF2 | ENSG00000129103.19 | transcript | ENST00000434526.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SUN3_chr7_47982148_48034107 | 48019977 | CAAAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG01884.hp2 HG02055.hp1 others(28): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 others(17): Show |
31 | 282 | 0.1099 | -7 | c.185 others(24): Show |
SUN3 | ENSG00000164744.14 | transcript | ENST00000297325.9 | protein_coding | 2/9 | chr7 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 44857112 | AATAGTAT | A | intron_variant | MODIFIER | HG00735.hp1 HG02109.hp2 HG02602.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0011 | a0001c0001t0002g0053 a0001c0001t0009g0054 a0001c0001t0009g0055 others(5): Show |
8 | 262 | 0.0305 | -7 | c.913 others(26): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 10/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45105474 | TTACTCAG | T | intron_variant | MODIFIER | HG00741.hp1 HG01884.hp2 HG02109.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010 | a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0012 others(8): Show |
11 | 262 | 0.0420 | -7 | c.186 others(22): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 3/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45170713 | ATGGCAAT | A | intron_variant | MODIFIER | HG01069.hp1 HG02258.hp1 HG02572.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0061 a0001c0001t0001g0062 others(4): Show |
7 | 262 | 0.0267 | -7 | c.102 others(26): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45243197 | CAAAAAAA | C | intron_variant | MODIFIER | HG01346.hp2 HG02257.hp1 HG02895.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(1): Show | a0001c0001t0002g0053 a0001c0001t0007g0052 a0001c0001t0007g0172 others(5): Show |
8 | 62 | 0.1290 | -7 | c.101 others(28): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45250378 | CAATAAAA | C | intron_variant | MODIFIER | NA18946.hp2 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 a0001c0001t0001g0199 |
2 | 262 | 0.0076 | -7 | c.101 others(28): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45287263 | AAAAATAT | A | intron_variant | MODIFIER | HG00741.hp1 HG01192.hp1 HG01255.hp1 others(49): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0017 a0001c0001t0002g0036 a0001c0001t0002g0037 others(49): Show |
52 | 262 | 0.1985 | -7 | c.101 others(26): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SUPT4H1_chr17_58340178_58357201 | 58350836 | CAAAAAAA | C | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp2 HG01261.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 a0001c0001t0003g0019 a0001c0001t0003g0066 others(1): Show |
18 | 283 | 0.0636 | -7 | c.176 others(22): Show |
SUPT4H1 | ENSG00000213246.7 | transcript | ENST00000225504.8 | protein_coding | 2/4 | chr17 | TogoVar | |||||||
SUPT5H_chr19_39440582_39481670 | 39440963 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00621.hp1 HG02055.hp1 HG02258.hp1 others(20): Show |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0017t0001 | a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0122 others(18): Show |
23 | 149 | 0.1544 | -7 | c.-47 others(18): Show |
SUPT5H | ENSG00000196235.14 | transcript | ENST00000432763.7 | protein_coding | 4618 | chr19 | TogoVar | |||||||
SUPV3L1_chr10_69175234_69214093 | 69176435 | AAAAAAAC | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(154): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(115): Show |
157 | 352 | 0.4460 | -7 | c.-38 others(18): Show |
SUPV3L1 | ENSG00000156502.14 | transcript | ENST00000359655.9 | protein_coding | 3798 | chr10 | TogoVar | |||||||
SURF1_chr9_133346758_133361487 | 133356757 | CAGGGGAG | C | upstream_gene_variant | MODIFIER | HG02451.hp2 HG03486.hp1 NA19030.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0061 a0003c0006t0001g0022 |
5 | 442 | 0.0113 | -7 | c.-31 others(16): Show |
SURF1 | ENSG00000148290.10 | transcript | ENST00000371974.8 | protein_coding | 271 | chr9 | TogoVar | |||||||
SURF2_chr9_133351550_133366158 | 133356757 | CAGGGGAG | C | intron_variant | MODIFIER | HG02451.hp2 HG03486.hp1 NA19030.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0014 |
5 | 446 | 0.0112 | -7 | c.78+ others(20): Show |
SURF2 | ENSG00000148291.10 | transcript | ENST00000371964.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SURF4_chr9_133356464_133381060 | 133356757 | CAGGGGAG | C | downstream_gene_variant | MODIFIER | HG02451.hp1 HG03486.hp1 NA19030.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0063 a0001c0001t0001g0116 a0001c0001t0019g0094 others(1): Show |
4 | 422 | 0.0095 | -7 | c.*67 others(18): Show |
SURF4 | ENSG00000148248.14 | transcript | ENST00000371989.8 | protein_coding | 4706 | chr9 | TogoVar | |||||||
SUSD1_chr9_112035783_112180297 | 112089811 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(208): Show |
a0001a0004a0005others(4): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0014 others(208): Show |
211 | 285 | 0.7404 | -7 | c.147 others(26): Show |
SUSD1 | ENSG00000106868.17 | transcript | ENST00000374270.8 | protein_coding | 10/16 | chr9 | TogoVar | |||||||
SUSD6_chr14_69606596_69720144 | 69689988 | AAGTTATT | A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG02056.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0033others(1): Show | a0001c0001t0001g0151 a0001c0001t0001g0232 a0001c0001t0007g0186 others(2): Show |
5 | 286 | 0.0175 | -7 | c.122 others(26): Show |
SUSD6 | ENSG00000100647.8 | transcript | ENST00000342745.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SV2B_chr15_91095257_91307565 | 91188037 | GTATTGAC | G | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00609.hp2 others(61): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0050 others(61): Show |
64 | 212 | 0.3019 | -7 | c.-39 others(28): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SV2B_chr15_91095257_91307565 | 91209105 | CTGTTTTT | C | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00609.hp2 others(13): Show |
a0001a0003a0005 | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0005a0001c0001t0044a0001c0001t0046others(10): Show | a0001c0001t0005g0034 a0001c0001t0044g0198 a0001c0001t0046g0128 others(13): Show |
16 | 212 | 0.0755 | -7 | c.-39 others(28): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SV2C_chr5_76078383_76338956 | 76109267 | TGCAAAGG | T | intron_variant | MODIFIER | HG02615.hp2 HG02886.hp1 HG02895.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0015a0002c0003others(1): Show | a0001c0001t0012a0001c0001t0013a0001c0001t0065others(3): Show | a0001c0001t0012g0083 a0001c0001t0013g0085 a0001c0001t0065g0233 others(3): Show |
6 | 232 | 0.0259 | -7 | c.-10 others(28): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SV2C_chr5_76078383_76338956 | 76130145 | TAAAAAAA | T | intron_variant | MODIFIER | HG00558.hp1 HG01074.hp1 HG01168.hp2 others(36): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0005a0001c0001t0025a0001c0001t0074others(32): Show | a0001c0001t0005g0162 a0001c0001t0025g0231 a0001c0001t0074g0208 others(36): Show |
39 | 62 | 0.6290 | -7 | c.-10 others(26): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SV2C_chr5_76078383_76338956 | 76335414 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG01256.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0032a0001c0001t0053a0001c0002t0112others(3): Show | a0001c0001t0032g0004 a0001c0001t0032g0161 a0001c0001t0053g0045 others(4): Show |
7 | 114 | 0.0614 | -7 | c.*98 others(18): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 1459 | chr5 | TogoVar | |||||||
SVBP_chr1_42802052_42822397 | 42818760 | TGCGCCCA | T | upstream_gene_variant | MODIFIER | HG02738.hp1 HG03688.hp2 HG03834.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0006 a0001c0001t0008g0092 |
4 | 392 | 0.0102 | -7 | c.-16 others(18): Show |
SVBP | ENSG00000177868.12 | transcript | ENST00000372521.9 | protein_coding | 1364 | chr1 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110368692 | TTCCTCTC | T | intron_variant | MODIFIER | HG02280.hp1 HG02559.hp2 HG02965.hp1 |
a0013 | a0013c0014 | a0013c0014t0004 | a0013c0014t0004g0101 a0013c0014t0004g0104 a0013c0014t0004g0105 |
3 | 360 | 0.0083 | -7 | c.106 others(28): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 47/47 | chr9 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110433364 | CAAAAAAA | C | intron_variant | MODIFIER | HG01261.hp1 HG01515.hp2 HG02129.hp2 others(21): Show |
a0010a0018a0020others(10): Show | a0010c0008a0010c0039a0018c0017others(14): Show | a0010c0008t0002a0010c0039t0002a0018c0017t0001others(14): Show | a0010c0008t0002g0194 a0010c0008t0002g0218 a0010c0008t0002g0225 others(21): Show |
24 | 44 | 0.5455 | -7 | c.506 others(24): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 30/47 | chr9 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110481530 | CCTGTCTA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(125): Show |
a0001a0002a0004others(34): Show | a0001c0002a0001c0053a0001c0061others(57): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(72): Show | a0001c0002t0001g0037 a0001c0002t0001g0119 a0001c0002t0002g0028 others(124): Show |
128 | 360 | 0.3556 | -7 | c.217 others(23): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 11/47 | chr9 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110511488 | CTTTTTTT | C | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp2 HG01257.hp1 others(7): Show |
a0001a0010a0013others(4): Show | a0001c0002a0001c0162a0010c0008others(5): Show | a0001c0002t0001a0001c0162t0006a0010c0008t0002others(5): Show | a0001c0002t0001g0035 a0001c0162t0006g0007 a0010c0008t0002g0218 others(7): Show |
10 | 130 | 0.0769 | -7 | c.130 others(26): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 5/47 | chr9 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110570970 | CTTTTTTT | C | intron_variant | MODIFIER | NA18982.hp1 NA18984.hp2 NA18988.hp1 others(3): Show |
a0002a0005a0009others(1): Show | a0002c0001a0005c0006a0005c0007others(2): Show | a0002c0001t0003a0005c0006t0002a0005c0007t0001others(2): Show | a0002c0001t0003g0312 a0005c0006t0002g0022 a0005c0006t0002g0266 others(3): Show |
6 | 91 | 0.0659 | -7 | c.531 others(24): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 1/47 | chr9 | TogoVar | |||||||
SVIL_chr10_29452338_29639971 | 29478924 | CAAAAAAA | C | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG01070.hp1 others(27): Show |
a0001a0002a0004others(5): Show | a0001c0004a0001c0014a0001c0090others(12): Show | a0001c0004t0001a0001c0014t0001a0001c0090t0001others(12): Show | a0001c0004t0001g0029 a0001c0004t0001g0031 a0001c0004t0001g0034 others(27): Show |
30 | 108 | 0.2778 | -7 | c.537 others(26): Show |
SVIL | ENSG00000197321.16 | transcript | ENST00000355867.9 | protein_coding | 29/37 | chr10 | TogoVar | |||||||
SVIL_chr10_29452338_29639971 | 29488206 | GGCAGAGA | G | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG01070.hp1 others(26): Show |
a0001a0002a0004others(4): Show | a0001c0004a0001c0014a0001c0090others(11): Show | a0001c0004t0001a0001c0014t0001a0001c0090t0001others(11): Show | a0001c0004t0001g0029 a0001c0004t0001g0031 a0001c0004t0001g0034 others(26): Show |
29 | 288 | 0.1007 | -7 | c.434 others(24): Show |
SVIL | ENSG00000197321.16 | transcript | ENST00000355867.9 | protein_coding | 23/37 | chr10 | TogoVar | |||||||
SVIL_chr10_29452338_29639971 | 29498088 | CAAAAAAA | C | intron_variant | MODIFIER | HG01243.hp1 HG01433.hp1 HG01884.hp2 others(21): Show |
a0002a0003a0004others(9): Show | a0002c0018a0003c0031a0003c0075others(15): Show | a0002c0018t0002a0003c0031t0003a0003c0031t0004others(16): Show | a0002c0018t0002g0054 a0002c0018t0002g0055 a0002c0018t0002g0056 others(21): Show |
24 | 155 | 0.1548 | -7 | c.366 others(26): Show |
SVIL | ENSG00000197321.16 | transcript | ENST00000355867.9 | protein_coding | 18/37 | chr10 | TogoVar | |||||||
SVIL_chr10_29452338_29639971 | 29555800 | GGGCCATC | G | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp1 HG03453.hp2 others(1): Show |
a0002a0010 | a0002c0018a0010c0048 | a0002c0018t0002a0010c0048t0001 | a0002c0018t0002g0054 a0002c0018t0002g0055 a0002c0018t0002g0056 others(1): Show |
4 | 288 | 0.0139 | -7 | c.-50 others(22): Show |
SVIL | ENSG00000197321.16 | transcript | ENST00000355867.9 | protein_coding | 3/37 | chr10 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138644197 | CAAAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG01978.hp2 HG02074.hp2 others(3): Show |
a0001a0002 | a0001c0002a0001c0005a0001c0016others(3): Show | a0001c0002t0002a0001c0005t0002a0001c0016t0002others(3): Show | a0001c0002t0002g0290 a0001c0005t0002g0024 a0001c0016t0002g0206 others(3): Show |
6 | 145 | 0.0414 | -7 | c.789 others(22): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 9/15 | chr7 | TogoVar |