regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMOC2_chr6_168436184_168672992 | 168562033 | T | TGGAGGAG others(45): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0050 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168562106 | A | ACCCTGAG others(45): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01978.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0023a0001c0002t0002g0031 | 2 | 180 | 0.0111 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168562189 | T | TGGAGGAG others(45): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0068 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168562189 | T | TGGAGGAG others(45): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0012 | a0002c0012t0010 | a0002c0012t0010g0076 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168562210 | A | ACCCTGAG others(45): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01496.hp1 HG01516.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0096a0001c0001t0001g0176a0001c0002t0002g0010others(3): Show | 6 | 180 | 0.0333 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168562293 | T | TGGAGGAG others(45): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01346.hp1 HG01496.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002 | a0001c0001t0001g0103a0001c0001t0001g0153a0001c0001t0004g0118others(2): Show | 5 | 180 | 0.0278 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168562340 | G | GTTCTTGG others(45): Show |
intron_variant | MODIFIER | HG03195.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0005 | a0001c0001t0001g0132a0001c0004t0005g0048 | 2 | 180 | 0.0111 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168562345 | C | CGGAGGAG others(45): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168562345 | C | CGGAGGAG others(45): Show |
intron_variant | MODIFIER | HG00741.hp1 HG03579.hp1 NA18973.hp1 |
a0001a0002 | a0001c0001a0002c0012 | a0001c0001t0001a0001c0001t0003a0002c0012t0010 | a0001c0001t0001g0110a0001c0001t0003g0149a0002c0012t0010g0076 | 3 | 180 | 0.0167 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168562366 | G | GCCCTGAG others(45): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02970.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002a0001c0002t0005 | a0001c0001t0003g0169a0001c0002t0002g0008a0001c0002t0002g0029others(1): Show | 4 | 180 | 0.0222 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168562386 | C | CACTGTGT others(45): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0023 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMUG1_chr12_54175366_54193985 | 54188303 | A | ATAATAAT others(45): Show |
intron_variant | MODIFIER | NA18964.hp2 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0068a0001c0001t0005g0069 | 2 | 438 | 0.0046 | 52 | c.-10 others(69): Show |
SMUG1 | ENSG00000123415.16 | transcript | ENST00000682136.1 | protein_coding | 1/3 | chr12 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246348077 | T | TATATATA others(45): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0105 | 1 | 150 | 0.0067 | 52 | c.228 others(69): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 2/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246483943 | T | TATCACTT others(45): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015 | 1 | 150 | 0.0067 | 52 | c.164 others(71): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246484573 | T | TTCAACCA others(45): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02280.hp1 HG03098.hp2 |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0002t0001a0001c0009t0001 | a0001c0001t0001g0047a0001c0002t0001g0024a0001c0009t0001g0002 | 3 | 150 | 0.0200 | 52 | c.164 others(71): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246484612 | G | GAAAACAC others(45): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03225.hp1 HG03579.hp2 |
a0002 | a0002c0003a0002c0004a0002c0005 | a0002c0003t0001a0002c0004t0001a0002c0005t0002 | a0002c0003t0001g0111a0002c0004t0001g0129a0002c0005t0002g0118 | 3 | 150 | 0.0200 | 52 | c.164 others(71): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246484625 | T | TTCAACCA others(45): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015 | 1 | 150 | 0.0067 | 52 | c.164 others(71): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246484677 | T | TTCAACCA others(45): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01243.hp1 HG02145.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003others(4): Show | a0001c0001t0001a0001c0006t0001a0002c0003t0001others(5): Show | a0001c0001t0001g0093a0001c0006t0001g0035a0002c0003t0001g0105others(9): Show | 12 | 150 | 0.0800 | 52 | c.164 others(71): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246484751 | T | TTGTACTA others(45): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0048 | 1 | 150 | 0.0067 | 52 | c.164 others(71): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246484754 | C | CACTAGTT others(45): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG02258.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004others(3): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0002others(5): Show | a0001c0001t0001g0018a0002c0003t0001g0096a0002c0003t0001g0137others(10): Show | 13 | 150 | 0.0867 | 52 | c.164 others(71): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246484973 | C | CCTGAAAA others(45): Show |
intron_variant | MODIFIER | HG00423.hp1 NA18522.hp1 |
a0002 | a0002c0003a0002c0007 | a0002c0003t0002a0002c0007t0001 | a0002c0003t0002g0131a0002c0007t0001g0120 | 2 | 150 | 0.0133 | 52 | c.164 others(71): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241036072 | T | TGGGGGGT others(45): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0334 | 1 | 344 | 0.0029 | 52 | c.806 others(67): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNIP1_chr1_37529449_37559293 | 37535230 | T | TTATATAT others(45): Show |
3_prime_UTR_variant | MODIFIER | HG03239.hp1 HG03654.hp1 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0155a0001c0001t0026g0174a0001c0001t0026g0200 | 3 | 394 | 0.0076 | 52 | c.*25 others(63): Show |
SNIP1 | ENSG00000163877.11 | transcript | ENST00000296215.8 | protein_coding | 4/4 | 2517 | chr1 | TogoVar | |||||
SNRK_chr3_43281540_43356143 | 43296421 | T | TATATATA others(45): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0024 | 1 | 258 | 0.0039 | 52 | c.-16 others(71): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SNRK_chr3_43281540_43356143 | 43296423 | T | TATATATA others(45): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 258 | 0.0039 | 52 | c.-16 others(71): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SNTG1_chr8_49906407_50801692 | 49938603 | T | TCTTTTCT others(45): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0002 | a0001c0002t0039 | a0001c0002t0039g0075 | 1 | 106 | 0.0094 | 52 | c.-10 others(73): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 1/18 | chr8 | TogoVar | ||||||
SNTG1_chr8_49906407_50801692 | 49938603 | T | TTTTCTTT others(45): Show |
intron_variant | MODIFIER | HG03490.hp1 NA18968.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0022a0001c0001t0005g0024 | 2 | 106 | 0.0189 | 52 | c.-10 others(73): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1105996 | A | ATGGAGAG others(45): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01261.hp2 HG01346.hp2 others(8): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0003a0003c0007others(4): Show | a0001c0001t0001a0002c0003t0001a0003c0007t0001others(4): Show | a0001c0001t0001g0016a0001c0001t0001g0187a0002c0003t0001g0064others(8): Show | 11 | 190 | 0.0579 | 52 | c.325 others(69): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1106129 | C | CTGCTGTC others(45): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02647.hp1 HG02886.hp2 others(2): Show |
a0003a0007a0011 | a0003c0007a0007c0017a0011c0018 | a0003c0007t0002a0007c0017t0001a0011c0018t0001 | a0003c0007t0002g0077a0007c0017t0001g0105a0007c0017t0001g0118others(2): Show | 5 | 190 | 0.0263 | 52 | c.325 others(69): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1221749 | G | GCCTATCT others(45): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0006 | 1 | 190 | 0.0053 | 52 | c.719 others(71): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1221865 | G | GCCTATCT others(45): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0176a0005c0006t0001g0189 | 2 | 190 | 0.0105 | 52 | c.719 others(71): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1222117 | C | CTCTGCCT others(45): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 190 | 0.0053 | 52 | c.719 others(71): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1222117 | C | CTCTGCCT others(45): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01074.hp2 HG01099.hp2 others(6): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0003c0008others(3): Show | a0001c0001t0001a0001c0002t0001a0003c0008t0002others(3): Show | a0001c0001t0001g0035a0001c0001t0001g0058a0001c0001t0001g0067others(6): Show | 9 | 190 | 0.0474 | 52 | c.719 others(71): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1222117 | C | CTCTGTCT others(45): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0004 | a0004c0014 | a0004c0014t0001 | a0004c0014t0001g0036 | 1 | 190 | 0.0053 | 52 | c.719 others(71): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNX10_chr7_26286862_26379383 | 26325304 | A | AATATATA others(45): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 390 | 0.0026 | 52 | c.-23 others(71): Show |
SNX10 | ENSG00000086300.17 | transcript | ENST00000338523.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SNX29_chr16_11971734_12579287 | 12476397 | T | TATATATA others(45): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0004 | a0001c0004t0074 | a0001c0004t0074g0159 | 1 | 176 | 0.0057 | 52 | c.203 others(71): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SNX29_chr16_11971734_12579287 | 12476399 | T | TATATATA others(45): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0002 | a0001c0002t0093 | a0001c0002t0093g0086 | 1 | 176 | 0.0057 | 52 | c.203 others(71): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SNX30_chr9_112745760_112879987 | 112865661 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0012 | 1 | 338 | 0.0030 | 52 | c.125 others(71): Show |
SNX30 | ENSG00000148158.17 | transcript | ENST00000374232.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SNX30_chr9_112745760_112879987 | 112865661 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0024 | 1 | 338 | 0.0030 | 52 | c.125 others(71): Show |
SNX30 | ENSG00000148158.17 | transcript | ENST00000374232.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SNX4_chr3_125441650_125525202 | 125495275 | T | TATATATA others(45): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307 | 1 | 360 | 0.0028 | 52 | c.597 others(69): Show |
SNX4 | ENSG00000114520.11 | transcript | ENST00000251775.9 | protein_coding | 5/13 | chr3 | TogoVar | ||||||
SNX5_chr20_17936600_17973794 | 17962611 | T | TAAAGACT others(45): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02040.hp1 NA18985.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0238a0001c0001t0003g0246a0001c0001t0003g0247 | 3 | 394 | 0.0076 | 52 | c.52- others(67): Show |
SNX5 | ENSG00000089006.17 | transcript | ENST00000377759.9 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
SNX6_chr14_34556093_34635148 | 34557554 | T | TTCTTCTT others(45): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0234 | 1 | 322 | 0.0031 | 52 | c.*55 others(63): Show |
SNX6 | ENSG00000129515.20 | transcript | ENST00000362031.10 | protein_coding | 3538 | chr14 | TogoVar | ||||||
SNX6_chr14_34556093_34635148 | 34557557 | T | TTCTTCTT others(45): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0282 | 1 | 322 | 0.0031 | 52 | c.*55 others(63): Show |
SNX6 | ENSG00000129515.20 | transcript | ENST00000362031.10 | protein_coding | 3535 | chr14 | TogoVar | ||||||
SNX6_chr14_34556093_34635148 | 34557557 | T | TTCTTCTT others(45): Show |
downstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0287 | 1 | 322 | 0.0031 | 52 | c.*55 others(63): Show |
SNX6 | ENSG00000129515.20 | transcript | ENST00000362031.10 | protein_coding | 3535 | chr14 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7486274 | C | CTGGCCCA others(45): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG01070.hp1 others(69): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(32): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(66): Show | a0001c0001t0003g0053a0001c0001t0004g0097a0001c0001t0005g0067others(69): Show | 72 | 168 | 0.4286 | 52 | c.549 others(71): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SORCS2_chr4_7187538_7747827 | 7486274 | C | CTGGCCTA others(45): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0011 | a0001c0011t0017 | a0001c0011t0017g0120 | 1 | 168 | 0.0060 | 52 | c.549 others(71): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SOX11_chr2_5687384_5706385 | 5700695 | C | CGGAGGCC others(45): Show |
3_prime_UTR_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0100 | a0001c0001t0100g0000 | 1 | 434 | 0.0023 | 52 | c.*66 others(63): Show |
SOX11 | ENSG00000176887.7 | transcript | ENST00000322002.5 | protein_coding | 1/1 | 6701 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
SOX30_chr5_157620679_157657438 | 157631049 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141 | 1 | 394 | 0.0025 | 52 | c.188 others(71): Show |
SOX30 | ENSG00000039600.11 | transcript | ENST00000265007.11 | protein_coding | 4/4 | chr5 | TogoVar | ||||||
SOX30_chr5_157620679_157657438 | 157631051 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00735.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011a0001c0001t0002g0135a0001c0001t0002g0136others(3): Show | 9 | 394 | 0.0228 | 52 | c.188 others(71): Show |
SOX30 | ENSG00000039600.11 | transcript | ENST00000265007.11 | protein_coding | 4/4 | chr5 | TogoVar | ||||||
SOX6_chr11_15961449_16361546 | 16079905 | C | CAACCATA others(45): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01891.hp1 HG02622.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009a0001c0001t0044others(1): Show | a0001c0001t0005g0042a0001c0001t0009g0038a0001c0001t0009g0039others(2): Show | 5 | 218 | 0.0229 | 52 | c.110 others(73): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 9/15 | chr11 | TogoVar |