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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SATL1_chrX_85087284_85248779 | 85088316 | G | GTTTTTTT | downstream_gene_variant | MODIFIER | HG00609.hp1 HG01952.hp1 HG02027.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0001g0078 a0001c0001t0001g0203 others(4): Show |
7 | 42 | 0.1667 | 7 | c.*40 others(18): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 3967 | chrX | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85220644 | T | TAAAAAAA | intron_variant | MODIFIER | HG01168.hp2 HG02615.hp1 HG02965.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0103 others(4): Show |
7 | 26 | 0.2692 | 7 | c.-31 others(26): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 2/7 | chrX | TogoVar | |||||||
SAV1_chr14_50628580_50673306 | 50637664 | G | GTTTTTTT | intron_variant | MODIFIER | HG01261.hp1 HG01433.hp2 HG01496.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008 | a0001c0001t0001g0043 a0001c0001t0001g0137 a0001c0001t0007g0171 others(2): Show |
6 | 298 | 0.0201 | 7 | c.951 others(24): Show |
SAV1 | ENSG00000151748.15 | transcript | ENST00000324679.5 | protein_coding | 4/4 | chr14 | TogoVar | |||||||
SAV1_chr14_50628580_50673306 | 50637673 | T | TTGTTTTG | intron_variant | MODIFIER | HG01361.hp1 HG01433.hp1 HG02145.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005a0001c0002t0015 | a0001c0002t0001g0075 a0001c0002t0005g0023 a0001c0002t0005g0024 others(3): Show |
8 | 387 | 0.0207 | 7 | c.951 others(24): Show |
SAV1 | ENSG00000151748.15 | transcript | ENST00000324679.5 | protein_coding | 4/4 | chr14 | TogoVar | |||||||
SAXO1_chr9_18922650_19038209 | 18969028 | A | AATGAGAC | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG01192.hp1 others(72): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0006a0001c0027others(12): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0015others(30): Show | a0001c0001t0001g0248 a0001c0001t0001g0259 a0001c0001t0001g0264 others(70): Show |
75 | 362 | 0.2072 | 7 | c.39- others(24): Show |
SAXO1 | ENSG00000155875.15 | transcript | ENST00000380534.9 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
SAXO1_chr9_18922650_19038209 | 18980781 | G | GAAAAAAA | intron_variant | MODIFIER | HG01074.hp2 HG02055.hp2 HG02145.hp2 others(6): Show |
a0003a0004a0016 | a0003c0003a0004c0004a0016c0021 | a0003c0003t0014a0003c0003t0020a0003c0003t0026others(3): Show | a0003c0003t0014g0100 a0003c0003t0020g0098 a0003c0003t0020g0102 others(6): Show |
9 | 117 | 0.0769 | 7 | c.39- others(24): Show |
SAXO1 | ENSG00000155875.15 | transcript | ENST00000380534.9 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
SAXO1_chr9_18922650_19038209 | 19014460 | C | CAAAAAAA | intron_variant | MODIFIER | HG00609.hp2 HG00735.hp1 HG01123.hp2 others(10): Show |
a0001a0003a0016 | a0001c0001a0003c0003a0016c0021 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0270 others(10): Show |
13 | 175 | 0.0743 | 7 | c.38+ others(24): Show |
SAXO1 | ENSG00000155875.15 | transcript | ENST00000380534.9 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
SBF1_chr22_50440000_50480035 | 50446377 | C | CCGGGTCT | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00673.hp2 HG00735.hp1 others(93): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0027a0001c0001t0043a0001c0001t0046others(56): Show | a0001c0001t0027g0051 a0001c0001t0043g0010 a0001c0001t0046g0268 others(91): Show |
96 | 395 | 0.2430 | 7 | c.*76 others(16): Show |
SBF1 | ENSG00000100241.22 | transcript | ENST00000380817.8 | protein_coding | 41/41 | 764 | chr22 | TogoVar | ||||||
SBF2_chr11_9773668_10299219 | 9794676 | C | CAAAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01123.hp1 others(21): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0004a0004c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0109 a0001c0001t0001g0134 others(21): Show |
24 | 47 | 0.5106 | 7 | c.457 others(26): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 33/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9835631 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG01070.hp2 HG02280.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0017a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0032 a0001c0001t0002g0189 a0001c0001t0003g0150 others(6): Show |
9 | 41 | 0.2195 | 7 | c.345 others(26): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 26/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9865688 | C | CAAAAAAA | intron_variant | MODIFIER | HG01175.hp2 HG02135.hp1 HG02280.hp1 others(4): Show |
a0001a0008 | a0001c0001a0001c0017a0008c0021 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0036 a0001c0001t0001g0112 others(4): Show |
7 | 83 | 0.0843 | 7 | c.193 others(26): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 17/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10090764 | C | CAAAAAAA | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp2 HG00673.hp2 others(36): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0036 others(36): Show |
39 | 125 | 0.3120 | 7 | c.142 others(26): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 2/39 | chr11 | TogoVar | |||||||
SBNO1_chr12_123284109_123369847 | 123294207 | A | ACGGTAAG | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG01175.hp2 HG01358.hp1 others(20): Show |
a0001a0003 | a0001c0006a0001c0014a0003c0007 | a0001c0006t0010a0001c0006t0011a0001c0006t0035others(8): Show | a0001c0006t0010g0008 a0001c0006t0010g0010 a0001c0006t0010g0012 others(20): Show |
23 | 258 | 0.0891 | 7 | c.*16 others(18): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 32/32 | 1700 | chr12 | TogoVar | ||||||
SBNO1_chr12_123284109_123369847 | 123303634 | A | AAGGAGTC | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG00642.hp2 others(64): Show |
a0001a0003 | a0001c0002a0001c0006a0001c0011others(2): Show | a0001c0002t0002a0001c0002t0009a0001c0002t0021others(24): Show | a0001c0002t0002g0218 a0001c0002t0002g0221 a0001c0002t0002g0222 others(64): Show |
67 | 258 | 0.2597 | 7 | c.376 others(24): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 29/31 | chr12 | TogoVar | |||||||
SBNO1_chr12_123284109_123369847 | 123366452 | C | CAAAAACA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(141): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0005a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(46): Show | a0001c0001t0001g0098 a0001c0001t0001g0120 a0001c0001t0001g0121 others(141): Show |
144 | 258 | 0.5581 | 7 | c.-17 others(18): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 1606 | chr12 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1165715 | T | TCAGACTC | intron_variant | MODIFIER | HG02280.hp2 HG03471.hp1 |
a0001a0009 | a0001c0016a0009c0029 | a0001c0016t0005a0009c0029t0005 | a0001c0016t0005g0029 a0009c0029t0005g0032 |
2 | 201 | 0.0100 | 7 | c.-12 others(26): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1166045 | T | TCCCAGAC | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp2 others(111): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(28): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(33): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0073 others(111): Show |
114 | 125 | 0.9120 | 7 | c.-12 others(26): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SC5D_chr11_121287771_121318410 | 121314315 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG02056.hp2 HG02129.hp1 NA18944.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0018others(1): Show | a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0003g0013 others(2): Show |
9 | 63 | 0.1429 | 7 | c.*68 others(18): Show |
SC5D | ENSG00000109929.10 | transcript | ENST00000264027.9 | protein_coding | 906 | chr11 | TogoVar | |||||||
SCAF8_chr6_154728416_154839221 | 154729472 | G | GTTTTTTT | upstream_gene_variant | MODIFIER | HG01123.hp1 HG01884.hp2 HG02258.hp1 others(10): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0009 | a0001c0001t0001a0001c0001t0002a0003c0003t0002others(1): Show | a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0105 others(10): Show |
13 | 22 | 0.5909 | 7 | c.-44 others(18): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 3943 | chr6 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125130936 | C | CTTTTTTT | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp2 HG01106.hp1 others(11): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0002t0007a0002c0002t0008others(4): Show | a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 others(11): Show |
14 | 152 | 0.0921 | 7 | c.98+ others(24): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 2/17 | chr9 | TogoVar | |||||||
SCAMP1_chr5_78355617_78485739 | 78403950 | C | CAAAAAAA | intron_variant | MODIFIER | HG01123.hp1 HG01261.hp2 HG01346.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0009a0001c0002t0013others(1): Show | a0001c0002t0004g0025 a0001c0002t0004g0046 a0001c0002t0004g0055 others(6): Show |
9 | 38 | 0.2368 | 7 | c.136 others(26): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCAMP1_chr5_78355617_78485739 | 78404453 | G | GTTTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(5): Show | a0001c0001t0001g0004 a0001c0001t0001g0160 a0001c0001t0001g0177 others(55): Show |
59 | 168 | 0.3512 | 7 | c.136 others(26): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCAMP2_chr15_74838730_74878365 | 74873426 | G | GCCCCCCC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG01175.hp2 HG01358.hp2 others(14): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0080 a0001c0001t0001g0122 others(14): Show |
17 | 55 | 0.3091 | 7 | c.-17 others(16): Show |
SCAMP2 | ENSG00000140497.16 | transcript | ENST00000268099.13 | protein_coding | 62 | chr15 | TogoVar | |||||||
SCAMP4_chr19_1900399_1931013 | 1928753 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG01109.hp2 HG01515.hp1 others(29): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0005a0001c0001t0013others(5): Show | a0001c0001t0001g0006 a0001c0001t0001g0032 a0001c0001t0001g0116 others(28): Show |
32 | 76 | 0.4211 | 7 | c.*44 others(18): Show |
SCAMP4 | ENSG00000227500.11 | transcript | ENST00000316097.13 | protein_coding | 2741 | chr19 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76370303 | T | TTTTTTTG | intron_variant | MODIFIER | HG02809.hp1 HG02886.hp2 HG02965.hp1 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0011 | a0002c0003t0002g0205 a0002c0003t0002g0206 a0002c0003t0002g0207 others(5): Show |
8 | 310 | 0.0258 | 7 | c.385 others(26): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 29/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76370310 | T | TTTTTTTG | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp1 HG01081.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(9): Show |
12 | 297 | 0.0404 | 7 | c.385 others(26): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 29/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76466419 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(63): Show |
a0001a0010 | a0001c0001a0001c0004a0001c0007others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0001others(2): Show | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(63): Show |
66 | 117 | 0.5641 | 7 | c.307 others(26): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 25/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76497989 | C | CAAAAAAA | intron_variant | MODIFIER | HG02451.hp1 HG02647.hp1 HG02886.hp1 others(3): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0009 | a0001c0001t0001a0002c0003t0002a0005c0009t0001 | a0001c0001t0001g0213 a0001c0001t0001g0214 a0002c0003t0002g0198 others(3): Show |
6 | 30 | 0.2000 | 7 | c.295 others(26): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 24/31 | chr15 | TogoVar | |||||||
SCAP_chr3_47408681_47480941 | 47473080 | C | CAAAAAAA | intron_variant | MODIFIER | HG02109.hp2 HG02922.hp2 HG03139.hp1 others(3): Show |
a0001 | a0001c0001a0001c0022 | a0001c0001t0001a0001c0022t0001 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(3): Show |
6 | 32 | 0.1875 | 7 | c.-99 others(24): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
SCARA3_chr8_27628902_27678018 | 27668546 | C | CAAAAAAA | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00609.hp2 others(19): Show |
a0002a0005a0007 | a0002c0002a0005c0005a0007c0006 | a0002c0002t0004a0002c0002t0028a0005c0005t0004others(1): Show | a0002c0002t0004g0003 a0002c0002t0004g0016 a0002c0002t0004g0037 others(16): Show |
22 | 261 | 0.0843 | 7 | c.137 others(26): Show |
SCARA3 | ENSG00000168077.14 | transcript | ENST00000301904.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27865788 | T | TATATATA | downstream_gene_variant | MODIFIER | HG02717.hp1 HG03209.hp1 NA18990.hp2 others(2): Show |
a0001a0002a0003 | a0001c0003a0002c0006a0003c0014 | a0001c0003t0039a0002c0006t0018a0003c0014t0031 | a0001c0003t0039g0024 a0002c0006t0018g0221 a0002c0006t0018g0222 others(2): Show |
5 | 298 | 0.0168 | 7 | c.*61 others(18): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4094 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27868926 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00621.hp1 others(46): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(21): Show | a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0162 others(46): Show |
49 | 73 | 0.6712 | 7 | c.*30 others(18): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 956 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27892606 | C | CTTTTTTT | intron_variant | MODIFIER | HG00733.hp1 HG00741.hp1 HG01106.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0008 | a0001c0001t0005a0001c0005t0045a0001c0008t0027others(1): Show | a0001c0001t0005g0174 a0001c0005t0045g0050 a0001c0008t0027g0164 others(3): Show |
6 | 53 | 0.1132 | 7 | c.115 others(28): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 7/8 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27950879 | G | GAAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00597.hp1 others(64): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(29): Show | a0001c0001t0001g0148 a0001c0001t0001g0159 a0001c0001t0001g0193 others(64): Show |
67 | 293 | 0.2287 | 7 | c.241 others(26): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
SCARB1_chr12_124771856_124868864 | 124794400 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00544.hp1 others(76): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0111 a0001c0001t0001g0301 a0001c0001t0001g0318 others(76): Show |
79 | 244 | 0.3238 | 7 | c.120 others(24): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 9/12 | chr12 | TogoVar | |||||||
SCARB2_chr4_76153737_76218824 | 76169341 | C | CACACACA | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp2 HG02809.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0003 | a0001c0001t0012a0001c0008t0012a0002c0003t0004others(4): Show | a0001c0001t0012g0177 a0001c0008t0012g0183 a0002c0003t0004g0227 others(5): Show |
8 | 265 | 0.0302 | 7 | c.111 others(24): Show |
SCARB2 | ENSG00000138760.11 | transcript | ENST00000264896.8 | protein_coding | 8/11 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82679211 | A | AAAGAAAG | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp1 HG00738.hp1 others(53): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0022 others(53): Show |
56 | 149 | 0.3758 | 7 | c.569 others(24): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82679220 | A | AGAGAAAG | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp1 HG00738.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0026 others(29): Show |
32 | 153 | 0.2092 | 7 | c.569 others(24): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82679222 | A | AGAAAGAG | intron_variant | MODIFIER | HG01516.hp1 HG02055.hp1 HG02258.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0096 a0001c0001t0002g0101 a0001c0001t0004g0155 others(2): Show |
5 | 177 | 0.0282 | 7 | c.569 others(24): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82702130 | C | CTTTTTTT | intron_variant | MODIFIER | HG02258.hp2 HG02486.hp2 HG02723.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(2): Show | a0001c0001t0001g0083 a0001c0001t0002g0014 a0001c0001t0002g0101 others(5): Show |
8 | 14 | 0.5714 | 7 | c.363 others(24): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82720441 | T | TACAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG01175.hp2 HG02486.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0081 a0001c0001t0001g0150 a0001c0001t0001g0151 others(5): Show |
8 | 57 | 0.1404 | 7 | c.233 others(26): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82759648 | T | TAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG02055.hp2 HG02280.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0057 a0001c0001t0001g0160 a0001c0001t0001g0175 others(5): Show |
8 | 121 | 0.0661 | 7 | c.232 others(26): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
SCFD1_chr14_30617319_30740850 | 30701591 | C | CTATATAT | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG02132.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 others(1): Show |
4 | 326 | 0.0123 | 7 | c.141 others(24): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD2_chr4_52867982_53371061 | 53092519 | A | ATACATGT | intron_variant | MODIFIER | HG00423.hp2 HG00735.hp1 HG01106.hp1 others(11): Show |
a0001a0002a0005others(1): Show | a0001c0005a0001c0007a0002c0002others(3): Show | a0001c0005t0001a0001c0005t0003a0001c0007t0001others(5): Show | a0001c0005t0001g0023 a0001c0005t0001g0024 a0001c0005t0001g0026 others(11): Show |
14 | 161 | 0.0870 | 7 | c.156 others(28): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 5/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53102865 | C | CAATAAGG | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG01106.hp2 others(14): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(4): Show | a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0132 others(14): Show |
17 | 162 | 0.1049 | 7 | c.156 others(28): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 5/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53207528 | A | ATATATAT | intron_variant | MODIFIER | HG02109.hp1 HG02630.hp2 HG02647.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0043 a0001c0001t0001g0075 a0001c0001t0001g0076 others(10): Show |
13 | 130 | 0.1000 | 7 | c.131 others(28): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 4/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53207529 | T | TATATATA | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(51): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(17): Show | a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0131 others(51): Show |
54 | 156 | 0.3462 | 7 | c.131 others(28): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 4/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53338575 | C | CTTTTTTT | intron_variant | MODIFIER | HG02602.hp1 HG02622.hp2 HG03540.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0008 | a0001c0001t0001a0001c0004t0002a0003c0008t0002 | a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 others(2): Show |
5 | 11 | 0.4545 | 7 | c.100 others(28): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 2/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53370409 | C | CCTTTTTT | upstream_gene_variant | MODIFIER | HG02622.hp2 HG02698.hp2 HG02735.hp1 others(4): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0014 | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(1): Show | a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0002g0057 others(4): Show |
7 | 28 | 0.2500 | 7 | c.-44 others(18): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 4349 | chr4 | TogoVar | |||||||
SCG5_chr15_32636710_32702092 | 32688958 | C | CAAAAAAA | intron_variant | MODIFIER | HG02717.hp1 HG02895.hp1 HG02896.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0096 a0001c0001t0001g0174 a0001c0001t0001g0216 others(3): Show |
6 | 289 | 0.0208 | 7 | c.490 others(24): Show |
SCG5 | ENSG00000166922.9 | transcript | ENST00000300175.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |