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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PTP4A3_chr8_141387021_141437454 | 141429707 | G | GCACAGTC others(1013): Show |
intron_variant | MODIFIER | HG02630.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0037 a0001c0001t0011g0038 |
2 | 322 | 0.0062 | 1020 | c.405 others(1037): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PWWP2B_chr10_132392200_132422859 | 132392564 | G | GTGATGAT others(1013): Show |
upstream_gene_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0004 | 1 | 199 | 0.0050 | 1020 | c.-46 others(1031): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4635 | chr10 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492363 | T | TCCCGGGA others(1013): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0041 | 1 | 235 | 0.0043 | 1020 | c.126 others(1039): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492455 | T | TCCCCGGG others(1013): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 269 | 0.0037 | 1020 | c.126 others(1039): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | chr16 | TogoVar | |||||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(1013): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 174 | 0.0057 | 1020 | c.66+ others(1035): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1013): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 195 | 0.0051 | 1020 | c.347 others(1035): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1013): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 195 | 0.0051 | 1020 | c.347 others(1035): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130646046 | T | TCCACCTC others(1013): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 141 | 0.0071 | 1020 | c.-35 others(1041): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RXRA_chr9_134321455_134445585 | 134394154 | G | GGTGATGG others(1013): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02809.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0008a0001c0001t0026a0001c0001t0051others(1): Show | a0001c0001t0008g0087 a0001c0001t0026g0127 a0001c0001t0051g0023 others(1): Show |
4 | 6 | 0.6667 | 1020 | c.29- others(1035): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3976136 | A | AGGGTCCC others(1013): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0002 | a0002c0009 | a0002c0009t0056 | a0002c0009t0056g0044 | 1 | 102 | 0.0098 | 1020 | c.199 others(1039): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3976270 | G | GTCCTCCA others(1013): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0003 | a0003c0001 | a0003c0001t0059 | a0003c0001t0059g0026 | 1 | 107 | 0.0093 | 1020 | c.199 others(1039): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3976616 | C | CCACGCAG others(1013): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0026 | a0026c0028 | a0026c0028t0049 | a0026c0028t0049g0035 | 1 | 63 | 0.0159 | 1020 | c.199 others(1039): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | |||||||
SHKBP1_chr19_40571873_40596397 | 40571904 | G | GCGCAAAG others(1013): Show |
upstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0160 | 1 | 390 | 0.0026 | 1020 | c.-49 others(1031): Show |
SHKBP1 | ENSG00000160410.15 | transcript | ENST00000291842.10 | protein_coding | 4968 | chr19 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75280140 | A | ATATATAG others(1013): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0089 | 1 | 143 | 0.0070 | 1020 | c.176 others(1037): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
TENM4_chr11_78647829_79446030 | 79139409 | C | CTATAAAT others(1013): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0046 | 1 | 31 | 0.0323 | 1020 | c.-66 others(1037): Show |
TENM4 | ENSG00000149256.16 | transcript | ENST00000278550.12 | protein_coding | 4/33 | chr11 | TogoVar | |||||||
TH_chr11_2158929_2176815 | 2161777 | C | CACCCCTG others(1013): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0021 | 1 | 335 | 0.0030 | 1020 | c.*24 others(1031): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2151 | chr11 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313372 | G | GGATCCCA others(1013): Show |
intron_variant | MODIFIER | NA18946.hp1 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0254 a0001c0001t0015g0255 |
2 | 100 | 0.0200 | 1020 | c.327 others(1037): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313395 | G | GCCTCAAC others(1013): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 342 | 0.0029 | 1020 | c.327 others(1037): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TRIO_chr5_14138342_14515204 | 14347016 | C | CTGGACCA others(1013): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0031 | a0001c0031t0002 | a0001c0031t0002g0031 | 1 | 196 | 0.0051 | 1020 | c.204 others(1041): Show |
TRIO | ENSG00000038382.23 | transcript | ENST00000344204.9 | protein_coding | 11/56 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(1013): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0162 | 1 | 98 | 0.0102 | 1020 | c.41- others(1037): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870176 | C | CCACACAC others(1013): Show |
intron_variant | MODIFIER | HG02132.hp2 NA18982.hp2 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 a0001c0001t0001g0125 a0001c0001t0001g0161 |
3 | 271 | 0.0111 | 1020 | c.*35 others(1039): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917282 | C | CGGAGGCT others(1013): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0312 | 1 | 324 | 0.0031 | 1020 | c.218 others(1037): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
VPS53_chr17_503668_719839 | 646549 | C | CGTGACCG others(1013): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0002 | a0001c0002t0038 | a0001c0002t0038g0219 | 1 | 230 | 0.0043 | 1020 | c.608 others(1037): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 7/21 | chr17 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687192 | C | CCCCGTGA others(1014): Show |
upstream_gene_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 211 | 0.0047 | 1021 | c.-15 others(1032): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1347 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687461 | G | GGTGAGCA others(1014): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0189 | 1 | 146 | 0.0068 | 1021 | c.-18 others(1032): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1616 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687461 | G | GGTGAGCA others(1014): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0186 | 1 | 146 | 0.0068 | 1021 | c.-18 others(1032): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1616 | chr8 | TogoVar | |||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1014): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0009 | a0001c0009t0010 | a0001c0009t0010g0208 | 1 | 8 | 0.1250 | 1021 | c.285 others(1040): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1014): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 8 | 0.1250 | 1021 | c.285 others(1040): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1014): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 8 | 0.1250 | 1021 | c.285 others(1040): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1014): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 8 | 0.1250 | 1021 | c.285 others(1040): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1014): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0258 | 1 | 8 | 0.1250 | 1021 | c.285 others(1040): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1014): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0235 | 1 | 8 | 0.1250 | 1021 | c.285 others(1040): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1014): Show |
intron_variant | MODIFIER | HG00597.hp2 NA19074.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0237 a0002c0003t0001g0307 |
2 | 9 | 0.2222 | 1021 | c.285 others(1040): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1014): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0246 | 1 | 8 | 0.1250 | 1021 | c.285 others(1040): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1014): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0199 | 1 | 76 | 0.0132 | 1021 | c.955 others(1038): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331540 | A | AAGGGAAA others(1014): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 219 | 0.0046 | 1021 | c.327 others(1038): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
C4orf50_chr4_5954375_6023431 | 6004539 | G | GTGATGAT others(1014): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0176 | 1 | 170 | 0.0059 | 1021 | c.963 others(1038): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(1014): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0302 | 1 | 194 | 0.0052 | 1021 | c.300 others(1038): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36287093 | A | ACTATGTA others(1014): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0021 | 1 | 353 | 0.0028 | 1021 | c.51+ others(1036): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1014): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0114 | a0114c0027 | a0114c0027t0001 | a0114c0027t0001g0031 | 1 | 98 | 0.0102 | 1021 | c.118 others(1040): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1014): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0064 | a0001c0064t0001 | a0001c0064t0001g0189 | 1 | 98 | 0.0102 | 1021 | c.118 others(1040): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438438 | A | AGGAGGAG others(1014): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0137 | a0137c0108 | a0137c0108t0001 | a0137c0108t0001g0069 | 1 | 241 | 0.0041 | 1021 | c.118 others(1040): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49067407 | A | AGTGTTAT others(1014): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01071.hp2 HG01106.hp1 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013a0001c0001t0041 | a0001c0001t0003g0010 a0001c0001t0003g0059 a0001c0001t0003g0071 others(37): Show |
40 | 41 | 0.9756 | 1021 | c.202 others(1042): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 17/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49067407 | A | AGTGTTAT others(1014): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0132 | 1 | 2 | 0.5000 | 1021 | c.202 others(1042): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 17/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49067407 | A | AGTGTTAT others(1014): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0234 | 1 | 2 | 0.5000 | 1021 | c.202 others(1042): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 17/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49067407 | A | AGTGTTAT others(1014): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(96): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0040 a0001c0001t0002g0062 a0001c0001t0002g0113 others(96): Show |
99 | 100 | 0.9900 | 1021 | c.202 others(1042): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 17/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49067407 | A | AGTGTTAT others(1014): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02145.hp1 HG02572.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0240 a0001c0001t0011g0241 a0001c0001t0011g0242 others(2): Show |
5 | 6 | 0.8333 | 1021 | c.202 others(1042): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 17/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49067407 | A | AGTGTTAT others(1014): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(49): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0002g0142 a0001c0001t0002g0279 a0001c0001t0002g0281 others(49): Show |
52 | 53 | 0.9811 | 1021 | c.202 others(1042): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 17/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49067407 | A | AGTGTTAT others(1014): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00621.hp1 others(65): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0034others(4): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(65): Show |
68 | 69 | 0.9855 | 1021 | c.202 others(1042): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 17/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(1014): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0232 | 1 | 73 | 0.0137 | 1021 | c.162 others(1040): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar |