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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC5A4_chr22_32213464_32260347 | 32213586 | A | ATATACAT others(39): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 137 | 0.0073 | 46 | c.*49 others(57): Show |
SLC5A4 | ENSG00000100191.6 | transcript | ENST00000266086.6 | protein_coding | 4877 | chr22 | TogoVar | |||||||
SLC5A4_chr22_32213464_32260347 | 32213700 | G | GTATATAT others(39): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(31): Show |
a0001a0003a0006others(1): Show | a0001c0001a0003c0007a0006c0008others(1): Show | a0001c0001t0001a0003c0007t0001a0006c0008t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0054 others(25): Show |
34 | 244 | 0.1393 | 46 | c.*48 others(57): Show |
SLC5A4 | ENSG00000100191.6 | transcript | ENST00000266086.6 | protein_coding | 4763 | chr22 | TogoVar | |||||||
SLC6A15_chr12_84854491_84917799 | 84900886 | G | GTGTATAT others(39): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01952.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0098 a0001c0001t0002g0077 |
2 | 84 | 0.0238 | 46 | c.-18 others(65): Show |
SLC6A15 | ENSG00000072041.18 | transcript | ENST00000266682.10 | protein_coding | 1/11 | chr12 | TogoVar | |||||||
SLC6A1_chr3_10987748_11044247 | 11029991 | A | AAGAAAGA others(39): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0316 | 1 | 267 | 0.0037 | 46 | c.132 others(63): Show |
SLC6A1 | ENSG00000157103.13 | transcript | ENST00000287766.10 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLC7A5_chr16_87825023_87874507 | 87863986 | A | AATATATA others(39): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0134 | 1 | 12 | 0.0833 | 46 | c.538 others(63): Show |
SLC7A5 | ENSG00000103257.9 | transcript | ENST00000261622.5 | protein_coding | 1/9 | chr16 | TogoVar | |||||||
SLC7A5_chr16_87825023_87874507 | 87873028 | T | TTCTTTCT others(39): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0034 | 1 | 307 | 0.0033 | 46 | c.-36 others(57): Show |
SLC7A5 | ENSG00000103257.9 | transcript | ENST00000261622.5 | protein_coding | 3522 | chr16 | TogoVar | |||||||
SLC8A1_chr2_40092270_40457090 | 40200173 | G | GAGATATA others(39): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01109.hp2 HG01243.hp1 others(15): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0001t0017a0001c0001t0022others(13): Show | a0001c0001t0006g0149 a0001c0001t0017g0025 a0001c0001t0022g0176 others(15): Show |
18 | 166 | 0.1084 | 46 | c.180 others(67): Show |
SLC8A1 | ENSG00000183023.19 | transcript | ENST00000332839.9 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
SLC8A1_chr2_40092270_40457090 | 40200173 | G | GAGATATA others(39): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0094 | a0001c0001t0094g0141 | 1 | 149 | 0.0067 | 46 | c.180 others(67): Show |
SLC8A1 | ENSG00000183023.19 | transcript | ENST00000332839.9 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
SLC8A1_chr2_40092270_40457090 | 40254370 | C | CAAAATGC others(39): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02615.hp1 HG02965.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0004a0001c0001t0015a0001c0001t0109others(1): Show | a0001c0001t0004g0054 a0001c0001t0004g0153 a0001c0001t0004g0158 others(4): Show |
7 | 234 | 0.0299 | 46 | c.180 others(67): Show |
SLC8A1 | ENSG00000183023.19 | transcript | ENST00000332839.9 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
SLC8A1_chr2_40092270_40457090 | 40302457 | G | GTGTGTGT others(39): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0170 | a0001c0001t0170g0061 | 1 | 234 | 0.0043 | 46 | c.180 others(69): Show |
SLC8A1 | ENSG00000183023.19 | transcript | ENST00000332839.9 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
SLC9A3_chr5_465456_529449 | 467399 | G | GGGCGCCC others(39): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 NA20129.hp1 |
a0005 | a0005c0012 | a0005c0012t0013 | a0005c0012t0013g0054 a0005c0012t0013g0132 |
2 | 212 | 0.0094 | 46 | c.*59 others(57): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 3056 | chr5 | TogoVar | |||||||
SLC9A3_chr5_465456_529449 | 507755 | C | CCACCCCA others(39): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01099.hp1 HG01099.hp2 others(49): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0007a0001c0008others(8): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(19): Show | a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0052 others(48): Show |
52 | 185 | 0.2811 | 46 | c.212 others(65): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | |||||||
SLC9A3_chr5_465456_529449 | 507938 | T | TCCACCCC others(39): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0005 | a0005c0012 | a0005c0012t0013 | a0005c0012t0013g0132 | 1 | 209 | 0.0048 | 46 | c.212 others(65): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | |||||||
SLC9A3_chr5_465456_529449 | 507961 | C | CTCACCCC others(39): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0061 | 1 | 214 | 0.0047 | 46 | c.212 others(65): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | |||||||
SLC9A8_chr20_49807828_49897242 | 49884233 | C | CGACACAC others(39): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0130 | 1 | 331 | 0.0030 | 46 | c.149 others(63): Show |
SLC9A8 | ENSG00000197818.12 | transcript | ENST00000361573.3 | protein_coding | 14/15 | chr20 | TogoVar | |||||||
SLCO1B3_chr12_20805705_20921911 | 20918434 | G | GTATGTGT others(39): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 HG02647.hp1 |
a0004a0009 | a0004c0006a0009c0019 | a0004c0006t0004a0009c0019t0004 | a0004c0006t0004g0100 a0009c0019t0004g0089 |
2 | 71 | 0.0282 | 46 | c.*21 others(57): Show |
SLCO1B3 | ENSG00000111700.13 | transcript | ENST00000381545.8 | protein_coding | 1524 | chr12 | TogoVar | |||||||
SLCO1B3_chr12_20805705_20921911 | 20918434 | G | GTATGTGT others(39): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 | a0011 | a0011c0020 | a0011c0020t0010 | a0011c0020t0010g0107 | 1 | 70 | 0.0143 | 46 | c.*21 others(57): Show |
SLCO1B3 | ENSG00000111700.13 | transcript | ENST00000381545.8 | protein_coding | 1524 | chr12 | TogoVar | |||||||
SLCO1B3_chr12_20805705_20921911 | 20918434 | G | GTATGTGT others(39): Show |
downstream_gene_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0060 | 1 | 70 | 0.0143 | 46 | c.*21 others(57): Show |
SLCO1B3 | ENSG00000111700.13 | transcript | ENST00000381545.8 | protein_coding | 1524 | chr12 | TogoVar | |||||||
SLCO3A1_chr15_91848708_92170903 | 92047150 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 | 1 | 185 | 0.0054 | 46 | c.647 others(65): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 2/9 | chr15 | TogoVar | |||||||
SLIT2_chr4_20246905_20625561 | 20472440 | A | ATATATCT others(39): Show |
intron_variant | MODIFIER | NA18983.hp2 NA19082.hp1 |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0009 | a0001c0002t0007g0177 a0001c0002t0009g0148 |
2 | 227 | 0.0088 | 46 | c.467 others(63): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLURP2_chr8_142759338_142774828 | 142761086 | G | GTAATTCA others(39): Show |
downstream_gene_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 313 | 0.0032 | 46 | c.*35 others(57): Show |
SLURP2 | ENSG00000283992.2 | transcript | ENST00000317543.12 | protein_coding | 3251 | chr8 | TogoVar | |||||||
SLX1B_chr16_29449533_29463219 | 29451070 | T | TAATAATA others(39): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 171 | 0.0058 | 46 | c.-36 others(57): Show |
SLX1B | ENSG00000181625.18 | transcript | ENST00000330181.10 | protein_coding | 3462 | chr16 | TogoVar | |||||||
SMARCAL1_chr2_216407484_216488053 | 216486118 | C | CGGGTTGG others(39): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0005 | 1 | 406 | 0.0025 | 46 | c.*31 others(57): Show |
SMARCAL1 | ENSG00000138375.14 | transcript | ENST00000357276.9 | protein_coding | 3066 | chr2 | TogoVar | |||||||
SMC1A_chrX_53369149_53427654 | 53410926 | C | CAAAAAAA others(39): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 72 | 0.0139 | 46 | c.125 others(63): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 7/24 | chrX | TogoVar | |||||||
SMG5_chr1_156244224_156287825 | 156286143 | T | TCCACCCC others(39): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127 | 1 | 366 | 0.0027 | 46 | c.-35 others(57): Show |
SMG5 | ENSG00000198952.8 | transcript | ENST00000361813.5 | protein_coding | 3319 | chr1 | TogoVar | |||||||
SMOC1_chr14_69874416_70037366 | 69930167 | A | ACCCCTGA others(39): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0037 a0001c0001t0009g0038 |
2 | 220 | 0.0091 | 46 | c.100 others(65): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SMOC1_chr14_69874416_70037366 | 69930167 | A | ACCCCTGA others(39): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02717.hp1 HG03579.hp2 |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0001c0001t0003a0006c0010t0001 | a0001c0001t0001g0031 a0001c0001t0003g0088 a0006c0010t0001g0035 |
3 | 221 | 0.0136 | 46 | c.100 others(65): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SMOC1_chr14_69874416_70037366 | 69930190 | T | TCCCCTGA others(39): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0219 | 1 | 265 | 0.0038 | 46 | c.100 others(65): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SMPX_chrX_21700978_21763116 | 21731569 | T | TGTATGTG others(39): Show |
intron_variant | MODIFIER | HG01258.hp1 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 a0001c0001t0001g0119 |
2 | 286 | 0.0070 | 46 | c.*14 others(63): Show |
SMPX | ENSG00000091482.8 | transcript | ENST00000379494.4 | protein_coding | 4/4 | chrX | TogoVar | |||||||
SMR3B_chr4_70378131_70395244 | 70391022 | C | CACACACA others(39): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG01934.hp2 HG01981.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0048 others(1): Show |
11 | 356 | 0.0309 | 46 | c.*11 others(57): Show |
SMR3B | ENSG00000171201.12 | transcript | ENST00000304915.8 | protein_coding | 779 | chr4 | TogoVar | |||||||
SMU1_chr9_33036765_33081674 | 33039536 | C | CATATATA others(39): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG01192.hp1 HG02145.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0020 | a0001c0001t0002g0090 a0001c0001t0005g0300 a0001c0001t0005g0301 others(2): Show |
5 | 305 | 0.0164 | 46 | c.*77 others(57): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 2228 | chr9 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99063251 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0199 | 1 | 248 | 0.0040 | 46 | c.56- others(61): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99063251 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0067 | 1 | 248 | 0.0040 | 46 | c.56- others(61): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99063253 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0164 | 1 | 255 | 0.0039 | 46 | c.56- others(61): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SMYD2_chr1_214276159_214342131 | 214299482 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0272 a0001c0001t0004g0269 |
2 | 344 | 0.0058 | 46 | c.174 others(63): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245774699 | C | CTCTCCAC others(39): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00597.hp2 others(40): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0012others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(40): Show |
43 | 144 | 0.2986 | 46 | c.107 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245774729 | C | CACGGTCT others(39): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02622.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0084 a0002c0003t0001g0136 |
2 | 150 | 0.0133 | 46 | c.107 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246428823 | C | CTGATTCA others(39): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00544.hp2 others(48): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(12): Show | a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0023 others(48): Show |
51 | 150 | 0.3400 | 46 | c.165 others(65): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246481607 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 | 1 | 75 | 0.0133 | 46 | c.164 others(65): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246481607 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02071.hp2 NA19086.hp2 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0002a0001c0014t0002 | a0001c0001t0002g0038 a0001c0001t0002g0087 a0001c0014t0002g0055 |
3 | 77 | 0.0390 | 46 | c.164 others(65): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SNAPC4_chr9_136370571_136405170 | 136403322 | G | GGGGGAGA others(39): Show |
upstream_gene_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 239 | 0.0042 | 46 | c.-31 others(57): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 3153 | chr9 | TogoVar | |||||||
SNAPC4_chr9_136370571_136405170 | 136403464 | G | GGGGAAGA others(39): Show |
upstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 376 | 0.0027 | 46 | c.-33 others(57): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 3295 | chr9 | TogoVar | |||||||
SNAPC4_chr9_136370571_136405170 | 136403464 | G | GGGGGAGA others(39): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0105 | 1 | 376 | 0.0027 | 46 | c.-33 others(57): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 3295 | chr9 | TogoVar | |||||||
SNIP1_chr1_37529449_37559293 | 37535230 | T | TTATATAT others(39): Show |
3_prime_UTR_variant | MODIFIER | NA19007.hp2 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0155 a0001c0001t0036g0168 |
2 | 285 | 0.0070 | 46 | c.*25 others(57): Show |
SNIP1 | ENSG00000163877.11 | transcript | ENST00000296215.8 | protein_coding | 4/4 | 2517 | chr1 | TogoVar | ||||||
SNIP1_chr1_37529449_37559293 | 37535239 | T | TATATATA others(39): Show |
3_prime_UTR_variant | MODIFIER | HG02698.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0052a0001c0001t0078 | a0001c0001t0052g0111 a0001c0001t0078g0125 |
2 | 86 | 0.0233 | 46 | c.*25 others(57): Show |
SNIP1 | ENSG00000163877.11 | transcript | ENST00000296215.8 | protein_coding | 4/4 | 2508 | chr1 | TogoVar | ||||||
SNTG1_chr8_49906407_50801692 | 49938603 | T | TTTTCTTT others(39): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0003 | a0002c0003t0018 | a0002c0003t0018g0045 | 1 | 34 | 0.0294 | 46 | c.-10 others(67): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNTG1_chr8_49906407_50801692 | 49938603 | T | TTTTCTTT others(39): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0020 | 1 | 34 | 0.0294 | 46 | c.-10 others(67): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1031528 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0121 | 1 | 81 | 0.0123 | 46 | c.73- others(63): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1221508 | T | TGTCTCTG others(39): Show |
intron_variant | MODIFIER | HG03239.hp2 HG03654.hp1 NA21309.hp1 |
a0004a0006 | a0004c0004a0006c0009 | a0004c0004t0001a0006c0009t0001 | a0004c0004t0001g0065 a0004c0004t0001g0177 a0006c0009t0001g0050 |
3 | 188 | 0.0160 | 46 | c.719 others(65): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | chr2 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1221819 | C | CTGCCTAT others(39): Show |
intron_variant | MODIFIER | HG01257.hp1 HG02148.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 a0001c0001t0001g0179 |
2 | 165 | 0.0121 | 46 | c.719 others(65): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |