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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DYSF_chr2_71461699_71691763 | 71618373 | A | ATGTGTGG others(1042): Show |
intron_variant | MODIFIER | HG01934.hp1 NA18948.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0040 a0001c0002t0002g0181 |
2 | 121 | 0.0165 | 1049 | c.446 others(1068): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GAS6_chr13_113815549_113869076 | 113824256 | C | CCGCGGTC others(1042): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0139 | 1 | 107 | 0.0093 | 1049 | c.147 others(1066): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113824256 | C | CCGCGGTC others(1042): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0030 | 1 | 107 | 0.0093 | 1049 | c.147 others(1066): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9400231 | C | CCCTCCCC others(1042): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0185 | 1 | 252 | 0.0040 | 1049 | c.*66 others(1060): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3243 | chr2 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(1042): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0093 | 1 | 5 | 0.2000 | 1049 | c.-41 others(1064): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KIF27_chr9_83829099_83926432 | 83848086 | T | TATATATG others(1042): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0023 | 1 | 342 | 0.0029 | 1049 | c.355 others(1068): Show |
KIF27 | ENSG00000165115.15 | transcript | ENST00000297814.7 | protein_coding | 16/17 | chr9 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055110 | A | AGGGATAG others(1042): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01934.hp1 HG01952.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0002t0001a0002c0003t0001 | a0001c0001t0002g0107 a0001c0001t0002g0171 a0001c0001t0002g0192 others(2): Show |
5 | 151 | 0.0331 | 1049 | c.193 others(1068): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055110 | A | AGGGATAG others(1042): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 147 | 0.0068 | 1049 | c.193 others(1068): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055110 | A | AGGGATAG others(1042): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03130.hp1 HG03225.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0008a0001c0002t0007 | a0001c0001t0005g0200 a0001c0001t0008g0199 a0001c0002t0007g0215 |
3 | 149 | 0.0201 | 1049 | c.193 others(1068): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055112 | A | AGGGATAG others(1042): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 a0001c0001t0001g0074 |
2 | 115 | 0.0174 | 1049 | c.193 others(1068): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124471472 | T | TATTTTAT others(1042): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0003 | a0003c0003 | a0003c0003t0009 | a0003c0003t0009g0257 | 1 | 209 | 0.0048 | 1049 | c.125 others(1066): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | chr10 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 923003 | G | GTTGGTGT others(1042): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0011 | a0011c0047 | a0011c0047t0010 | a0011c0047t0010g0281 | 1 | 274 | 0.0036 | 1049 | c.514 others(1068): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(1042): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 1049 | c.641 others(1064): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(1042): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0141 | 1 | 210 | 0.0048 | 1049 | c.-5+ others(1064): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(1042): Show |
intron_variant | MODIFIER | HG01975.hp1 HG03516.hp1 HG03669.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003 | a0002c0002t0001g0115 a0002c0002t0001g0117 a0002c0002t0001g0119 others(5): Show |
8 | 217 | 0.0369 | 1049 | c.-5+ others(1064): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
NME8_chr7_37843597_37905397 | 37848245 | G | GAAGAAGA others(1042): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0146 |
2 | 295 | 0.0068 | 1049 | c.-72 others(1058): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 351 | chr7 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811297 | C | CTTCCCTC others(1042): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0060 | 1 | 131 | 0.0076 | 1049 | c.773 others(1064): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230332040 | A | ACACACCA others(1042): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03139.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0050a0001c0001t0076a0001c0001t0093 | a0001c0001t0050g0006 a0001c0001t0076g0135 a0001c0001t0093g0134 |
3 | 138 | 0.0217 | 1049 | c.127 others(1066): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
PGBD5_chr1_230309490_230431332 | 230332040 | A | ACACACCA others(1042): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03486.hp1 HG03540.hp1 |
a0001 | a0001c0006 | a0001c0006t0001a0001c0006t0016 | a0001c0006t0001g0027 a0001c0006t0016g0060 a0001c0006t0016g0061 |
3 | 138 | 0.0217 | 1049 | c.127 others(1066): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
PGBD5_chr1_230309490_230431332 | 230332040 | A | ACACACCA others(1042): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0002 | a0001c0002t0082 | a0001c0002t0082g0202 | 1 | 136 | 0.0074 | 1049 | c.127 others(1066): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
PGBD5_chr1_230309490_230431332 | 230332040 | A | ACACACCA others(1042): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0043 | 1 | 136 | 0.0074 | 1049 | c.127 others(1066): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
PGBD5_chr1_230309490_230431332 | 230332040 | A | ACACACCA others(1042): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02647.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0048a0001c0001t0077 | a0001c0001t0027g0017 a0001c0001t0027g0051 a0001c0001t0048g0005 others(1): Show |
4 | 139 | 0.0288 | 1049 | c.127 others(1066): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50028754 | C | CCCCCACA others(1042): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0080 | 1 | 206 | 0.0049 | 1049 | c.225 others(1068): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975324 | T | TATAAATA others(1043): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0257 | 1 | 271 | 0.0037 | 1050 | c.130 others(1069): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975324 | T | TATAAATA others(1043): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 271 | 0.0037 | 1050 | c.130 others(1069): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111597 | G | GGGCACCT others(1043): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0139 | 1 | 280 | 0.0036 | 1050 | c.401 others(1067): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111744 | A | ACCAGACC others(1043): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0021 | 1 | 283 | 0.0035 | 1050 | c.401 others(1067): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111751 | A | AACCTGCC others(1043): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0224 | 1 | 216 | 0.0046 | 1050 | c.401 others(1067): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111893 | A | ACACCTCC others(1043): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0178 | 1 | 158 | 0.0063 | 1050 | c.401 others(1067): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133112019 | A | ACACCTCC others(1043): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0003 | a0001c0003t0069 | a0001c0003t0069g0167 | 1 | 216 | 0.0046 | 1050 | c.401 others(1067): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133112019 | A | ACACCTCC others(1043): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0021 | 1 | 216 | 0.0046 | 1050 | c.401 others(1067): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AKAP17A_chrX_1586604_1607520 | 1596431 | C | CTCCTCCT others(1043): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0058 | 1 | 73 | 0.0137 | 1050 | c.911 others(1065): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ANKLE2_chr12_132720503_132766832 | 132759517 | A | ATATGATA others(1043): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313 | 1 | 319 | 0.0031 | 1050 | c.181 others(1067): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1043): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 3 | 0.3333 | 1050 | c.787 others(1065): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARL4A_chr7_12682633_12695958 | 12685527 | T | TAGAAACA others(1043): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0002 | 1 | 425 | 0.0024 | 1050 | c.-22 others(1061): Show |
ARL4A | ENSG00000122644.13 | transcript | ENST00000651779.1 | protein_coding | 2105 | chr7 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9400231 | C | CCCTCCCC others(1043): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0027 | 1 | 190 | 0.0053 | 1050 | c.273 others(1067): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9400231 | C | CCCTCCCC others(1043): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0150 | 1 | 190 | 0.0053 | 1050 | c.273 others(1067): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1410178 | G | GTACTCCC others(1043): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0181 | 1 | 167 | 0.0060 | 1050 | c.164 others(1069): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCT others(1043): Show |
downstream_gene_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 223 | 0.0045 | 1050 | c.*36 others(1061): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89648069 | G | CACCCAGT others(1043): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 298 | 0.0034 | 1050 | c.253 others(1065): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89648111 | G | GACCCAGT others(1043): Show |
intron_variant | MODIFIER | NA18942.hp1 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 a0001c0001t0002g0011 |
2 | 349 | 0.0057 | 1050 | c.253 others(1065): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89648153 | G | GACCCAGT others(1043): Show |
intron_variant | MODIFIER | NA18965.hp2 NA18973.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 2 | 358 | 0.0056 | 1050 | c.253 others(1065): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89648194 | A | AGACCCAG others(1043): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 278 | 0.0036 | 1050 | c.253 others(1065): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89648351 | C | CGCCGACG others(1043): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 366 | 0.0027 | 1050 | c.252 others(1066): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333447 | T | TACACACC others(1043): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0194 a0001c0001t0002g0195 |
2 | 365 | 0.0055 | 1050 | c.891 others(1065): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287093 | A | ACTATGTA others(1043): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 353 | 0.0028 | 1050 | c.51+ others(1065): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
DYSF_chr2_71448561_71691763 | 71618373 | A | ATGTGTGG others(1043): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0140 | 1 | 108 | 0.0093 | 1050 | c.441 others(1069): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71618373 | A | ATGTGTGG others(1043): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0070 | 1 | 120 | 0.0083 | 1050 | c.446 others(1069): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 520576 | C | CCACCGAG others(1043): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01192.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 a0001c0001t0002g0165 |
2 | 224 | 0.0089 | 1050 | c.238 others(1071): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 520576 | C | CCACCGAG others(1043): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058 | 1 | 223 | 0.0045 | 1050 | c.238 others(1071): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar |