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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PXDN_chr2_1626887_1749515 | 1720186 | G | GGAGGGAT others(417): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02965.hp2 |
a0001 | a0001c0004a0001c0006 | a0001c0004t0004a0001c0006t0013 | a0001c0004t0004g0311 a0001c0006t0013g0309 |
2 | 322 | 0.0062 | 424 | c.200 others(443): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 468269 | A | AGTCAGGG others(417): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02145.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0011a0001c0001t0012others(1): Show | a0001c0001t0010g0032 a0001c0001t0010g0046 a0001c0001t0011g0110 others(4): Show |
7 | 295 | 0.0237 | 424 | c.809 others(441): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 468286 | A | AGGGGCGT others(417): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00609.hp2 others(24): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0003g0060 a0001c0001t0003g0180 a0001c0001t0003g0213 others(24): Show |
27 | 295 | 0.0915 | 424 | c.809 others(441): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 468286 | A | AGGGGTGT others(417): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01106.hp1 HG01109.hp2 others(4): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0014others(1): Show | a0001c0001t0007a0001c0001t0042a0001c0002t0009others(3): Show | a0001c0001t0007g0082 a0001c0001t0042g0085 a0001c0002t0009g0081 others(4): Show |
7 | 295 | 0.0237 | 424 | c.809 others(441): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 468286 | A | AGGGGTGT others(417): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0037 | 1 | 295 | 0.0034 | 424 | c.809 others(441): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 504502 | T | TTCCTGTA others(417): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0008 | a0008c0019 | a0008c0019t0002 | a0008c0019t0002g0114 | 1 | 295 | 0.0034 | 424 | c.139 others(443): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114043890 | G | GCCCCCCC others(417): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 67 | 0.0149 | 424 | c.278 others(441): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114099833 | C | CCCCCCAC others(417): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0022 | 1 | 67 | 0.0149 | 424 | c.56- others(441): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RETNLB_chr3_108750638_108762410 | 108759494 | T | TGTATGTA others(417): Show |
upstream_gene_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 452 | 0.0022 | 424 | c.-23 others(435): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 2085 | chr3 | TogoVar | |||||||
RETNLB_chr3_108750638_108762410 | 108759494 | T | TGTATGTA others(417): Show |
upstream_gene_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 452 | 0.0022 | 424 | c.-23 others(435): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 2085 | chr3 | TogoVar | |||||||
RTP3_chr3_46492976_46505950 | 46494996 | C | CGGGAGGG others(417): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 2 | 426 | 0.0047 | 424 | c.-30 others(435): Show |
RTP3 | ENSG00000163825.5 | transcript | ENST00000296142.4 | protein_coding | 2979 | chr3 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133668436 | T | TCTCCATC others(417): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0224 | 1 | 262 | 0.0038 | 424 | c.249 others(443): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85088046 | G | GTATTTAT others(417): Show |
downstream_gene_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0007 | 1 | 232 | 0.0043 | 424 | c.*43 others(435): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 4237 | chrX | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1166040 | C | CCAAGATC others(417): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0040 | a0001c0040t0001 | a0001c0040t0001g0202 | 1 | 203 | 0.0049 | 424 | c.-12 others(443): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1290018 | T | TCCCCCGT others(417): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0083 | 1 | 290 | 0.0035 | 424 | c.166 others(441): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1290173 | C | CCTGCTCC others(417): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0042 | a0042c0064 | a0042c0064t0001 | a0042c0064t0001g0109 | 1 | 290 | 0.0035 | 424 | c.166 others(439): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCTACT others(417): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0081 | 1 | 280 | 0.0036 | 424 | c.89- others(437): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3977001 | C | CCCTCCAG others(417): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0055 | a0002c0055t0002 | a0002c0055t0002g0101 | 1 | 116 | 0.0086 | 424 | c.199 others(443): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SEMA3C_chr7_80737538_80924051 | 80863884 | T | TATGTATG others(417): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0067 | 1 | 244 | 0.0041 | 424 | c.104 others(443): Show |
SEMA3C | ENSG00000075223.14 | transcript | ENST00000265361.8 | protein_coding | 2/17 | chr7 | TogoVar | |||||||
SHANK1_chr19_50654255_50724802 | 50678976 | G | GTGGGGAG others(417): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0003 | a0003c0006 | a0003c0006t0006 | a0003c0006t0006g0283 | 1 | 316 | 0.0032 | 424 | c.257 others(443): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | TogoVar | |||||||
SHANK1_chr19_50654255_50724802 | 50678976 | G | GTGGGGAG others(417): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0041 | a0041c0073 | a0041c0073t0002 | a0041c0073t0002g0293 | 1 | 316 | 0.0032 | 424 | c.257 others(443): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 433945 | A | AGATCATG others(417): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02818.hp1 HG02922.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0008 | a0001c0001t0006a0001c0005t0006a0003c0008t0006 | a0001c0001t0006g0043 a0001c0001t0006g0049 a0001c0001t0006g0054 others(2): Show |
5 | 212 | 0.0236 | 424 | c.111 others(441): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
SLC10A7_chr4_146248981_146526940 | 146286297 | A | AGTTTGGA others(417): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 244 | 0.0041 | 424 | c.774 others(441): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 9/11 | chr4 | TogoVar | |||||||
SLC25A12_chr2_171778405_171899244 | 171866626 | C | CGGGCGGG others(417): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02132.hp2 HG02559.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0155 others(18): Show |
21 | 314 | 0.0669 | 424 | c.209 others(441): Show |
SLC25A12 | ENSG00000115840.14 | transcript | ENST00000422440.7 | protein_coding | 3/17 | chr2 | TogoVar | |||||||
SLC25A12_chr2_171778405_171899244 | 171866626 | C | CGGGCGGG others(417): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0309 | 1 | 314 | 0.0032 | 424 | c.209 others(441): Show |
SLC25A12 | ENSG00000115840.14 | transcript | ENST00000422440.7 | protein_coding | 3/17 | chr2 | TogoVar | |||||||
SLC25A12_chr2_171778405_171899244 | 171866626 | C | CGGGCGGG others(417): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0033 |
2 | 314 | 0.0064 | 424 | c.209 others(441): Show |
SLC25A12 | ENSG00000115840.14 | transcript | ENST00000422440.7 | protein_coding | 3/17 | chr2 | TogoVar | |||||||
SNAPC4_chr9_136370571_136405170 | 136403322 | G | GGGGGGAG others(417): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 380 | 0.0026 | 424 | c.-31 others(435): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 3153 | chr9 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46161029 | A | AAGGGGAA others(417): Show |
downstream_gene_variant | MODIFIER | HG02071.hp2 | a0015 | a0015c0024 | a0015c0024t0002 | a0015c0024t0002g0135 | 1 | 251 | 0.0040 | 424 | c.*34 others(433): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 130 | chr21 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46161029 | A | AAGGGGAA others(417): Show |
downstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 | 1 | 251 | 0.0040 | 424 | c.*34 others(433): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 130 | chr21 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46161029 | A | AAGGGGAA others(417): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0022 | a0001c0022t0032 | a0001c0022t0032g0127 | 1 | 251 | 0.0040 | 424 | c.*34 others(433): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 130 | chr21 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46161029 | A | AAGGGGAA others(417): Show |
downstream_gene_variant | MODIFIER | HG02074.hp2 | a0017 | a0017c0021 | a0017c0021t0002 | a0017c0021t0002g0125 | 1 | 251 | 0.0040 | 424 | c.*34 others(433): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 130 | chr21 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46161029 | A | AAGGGGAA others(417): Show |
downstream_gene_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0134 | 1 | 251 | 0.0040 | 424 | c.*34 others(433): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 130 | chr21 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46161029 | A | AAGGGGAA others(417): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 251 | 0.0040 | 424 | c.*34 others(433): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 130 | chr21 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46161031 | G | GGGGAAGG others(417): Show |
downstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0133 | 1 | 251 | 0.0040 | 424 | c.*34 others(433): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 128 | chr21 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167109141 | A | AAAAATAT others(417): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0143 | 1 | 144 | 0.0069 | 424 | c.190 others(443): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
ST7_chr7_116948501_117235176 | 117031379 | T | TGTATATA others(417): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 188 | 0.0053 | 424 | c.152 others(443): Show |
ST7 | ENSG00000004866.22 | transcript | ENST00000323984.8 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
ST7_chr7_116948501_117235176 | 117031379 | T | TGTATATA others(417): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02083.hp1 HG02615.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 a0001c0001t0001g0116 a0001c0001t0001g0156 others(2): Show |
5 | 188 | 0.0266 | 424 | c.152 others(443): Show |
ST7 | ENSG00000004866.22 | transcript | ENST00000323984.8 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
ST7_chr7_116948501_117235176 | 117031379 | T | TGTATATA others(417): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 188 | 0.0053 | 424 | c.152 others(443): Show |
ST7 | ENSG00000004866.22 | transcript | ENST00000323984.8 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
STMN3_chr20_63634712_63658424 | 63641853 | C | CGCCCAGT others(417): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 388 | 0.0026 | 424 | c.483 others(439): Show |
STMN3 | ENSG00000197457.10 | transcript | ENST00000370053.3 | protein_coding | 4/4 | chr20 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672766 | A | AGAGGGAG others(417): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0003 | a0001c0003t0026 | a0001c0003t0026g0166 | 1 | 276 | 0.0036 | 424 | c.-18 others(443): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672766 | A | AGAGGGAG others(417): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02970.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0035a0001c0004t0014 | a0001c0002t0035g0055 a0001c0004t0014g0069 |
2 | 276 | 0.0073 | 424 | c.-18 others(443): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672766 | A | AGAGGGAG others(417): Show |
intron_variant | MODIFIER | HG03139.hp1 NA20805.hp2 |
a0001 | a0001c0002 | a0001c0002t0062a0001c0002t0065 | a0001c0002t0062g0052 a0001c0002t0065g0259 |
2 | 276 | 0.0073 | 424 | c.-18 others(443): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672766 | A | AGAGGGAG others(417): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0003 | a0001c0003t0022 | a0001c0003t0022g0216 | 1 | 276 | 0.0036 | 424 | c.-18 others(443): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672766 | A | AGAGGGAG others(417): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0148 | 1 | 276 | 0.0036 | 424 | c.-18 others(443): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672766 | A | AGAGGGAG others(417): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0179 | 1 | 276 | 0.0036 | 424 | c.-18 others(443): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672766 | A | AGAGGGAG others(417): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0163 | 1 | 276 | 0.0036 | 424 | c.-18 others(443): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672766 | A | AGAGGGAG others(417): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 276 | 0.0036 | 424 | c.-18 others(443): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672766 | A | AGAGGGAG others(417): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0123 | a0001c0001t0123g0274 | 1 | 276 | 0.0036 | 424 | c.-18 others(443): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672766 | A | AGAGGGAG others(417): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0057 | 1 | 276 | 0.0036 | 424 | c.-18 others(443): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672778 | G | GGAGGGGG others(417): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0111 | a0001c0001t0111g0040 | 1 | 276 | 0.0036 | 424 | c.-18 others(443): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar |