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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASAP2_chr2_9201812_9410678 | 9400231 | C | CCCTCCCC others(1043): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0026 | 1 | 210 | 0.0048 | 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 | 210 | 0.0048 | 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 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0178 | 1 | 185 | 0.0054 | 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 | a0001c0001t0001g0060 | 1 | 391 | 0.0026 | 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 | a0001c0001t0002g0267 | 1 | 392 | 0.0026 | 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 | a0001c0001t0002g0266a0001c0001t0002g0290 | 2 | 392 | 0.0051 | 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 | a0001c0001t0002g0019 | 2 | 392 | 0.0051 | 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 | a0001c0001t0002g0253 | 1 | 392 | 0.0026 | 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 | a0001c0001t0001g0330 | 1 | 392 | 0.0026 | 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 | a0001c0001t0002g0011 | 2 | 370 | 0.0054 | 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 | a0001c0001t0002g0081 | 1 | 448 | 0.0022 | 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 | a0001c0005t0001g0136 | 1 | 192 | 0.0052 | 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 | 208 | 0.0048 | 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 | a0001c0001t0002g0164a0001c0001t0002g0165 | 2 | 272 | 0.0074 | 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 | a0001c0002t0001g0056 | 1 | 272 | 0.0037 | 1050 | c.238 others(1071): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176591818 | T | TGTGATGG others(1043): Show |
downstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 397 | 0.0025 | 1050 | c.*49 others(1061): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 3983 | chr5 | TogoVar | ||||||
INS_chr11_2154779_2166209 | 2161948 | C | CACCCCTG others(1043): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 376 | 0.0027 | 1050 | c.-79 others(1059): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 740 | chr11 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9400231 | C | CCCTCCCC others(1043): Show |
downstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0136 | a0001c0001t0136g0245 | 1 | 276 | 0.0036 | 1050 | c.*66 others(1061): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3243 | chr2 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9400231 | C | CCCTCCCC others(1043): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0165 | 1 | 276 | 0.0036 | 1050 | c.*66 others(1061): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3243 | chr2 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055104 | T | TGCATAGA others(1043): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 | 1 | 236 | 0.0042 | 1050 | c.193 others(1069): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195776130 | C | CCATACCT others(1043): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0041 | a0041c0156 | a0041c0156t0002 | a0041c0156t0002g0023 | 1 | 249 | 0.0040 | 1050 | c.129 others(1071): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195776130 | C | CCATACCT others(1043): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0010 | 1 | 249 | 0.0040 | 1050 | c.129 others(1071): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1043): Show |
downstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 456 | 0.0022 | 1050 | c.*31 others(1061): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230332040 | A | ACACACCA others(1043): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0002 | a0001c0002t0095 | a0001c0002t0095g0230 | 1 | 288 | 0.0035 | 1050 | c.127 others(1067): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2124246 | G | GGTAGTTA others(1043): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0041 | 1 | 286 | 0.0035 | 1050 | c.335 others(1069): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(1043): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0203 | 1 | 370 | 0.0027 | 1050 | c.438 others(1067): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(1043): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0170 | 1 | 334 | 0.0030 | 1050 | c.45- others(1065): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SBNO2_chr19_1102638_1179268 | 1142161 | A | AATGACCT others(1043): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0030 | a0001c0030t0001 | a0001c0030t0001g0015 | 1 | 203 | 0.0049 | 1050 | c.279 others(1067): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 4/31 | chr19 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76608626 | T | TATAGCAT others(1043): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0116 | 1 | 218 | 0.0046 | 1050 | c.323 others(1069): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SPEF2_chr5_35612863_35819611 | 35708695 | C | CCATCACC others(1043): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0091 | 1 | 268 | 0.0037 | 1050 | c.266 others(1067): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 18/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(1043): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00558.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0064others(24): Show | 27 | 258 | 0.1047 | 1050 | c.113 others(1069): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TERT_chr5_1248167_1300068 | 1291460 | C | CAGGGACA others(1043): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036 | 1 | 392 | 0.0026 | 1050 | c.157 others(1069): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | ||||||
TMEM163_chr2_134450759_134724000 | 134607955 | A | AAGGAGGA others(1043): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0030 | 1 | 222 | 0.0045 | 1050 | c.323 others(1069): Show |
TMEM163 | ENSG00000152128.13 | transcript | ENST00000281924.6 | protein_coding | 2/7 | chr2 | TogoVar | ||||||
TRIM58_chr1_247852187_247885138 | 247870492 | A | ACCCAGAA others(1043): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0015 | a0015c0043 | a0015c0043t0019 | a0015c0043t0019g0235 | 1 | 454 | 0.0022 | 1050 | c.871 others(1067): Show |
TRIM58 | ENSG00000162722.9 | transcript | ENST00000366481.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
TRIM58_chr1_247852187_247885138 | 247870492 | A | ACCCAGAA others(1043): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0008 | a0001c0008t0007 | a0001c0008t0007g0295 | 1 | 454 | 0.0022 | 1050 | c.871 others(1067): Show |
TRIM58 | ENSG00000162722.9 | transcript | ENST00000366481.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
UNC5B_chr10_71207570_71307864 | 71296783 | A | ACTGGCGG others(1043): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0340 | 1 | 368 | 0.0027 | 1050 | c.249 others(1067): Show |
UNC5B | ENSG00000107731.12 | transcript | ENST00000335350.10 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111675 | C | CACCACAG others(1044): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0264 | 1 | 368 | 0.0027 | 1051 | c.401 others(1068): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113419038 | C | CCCCTTCC others(1044): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 262 | 0.0038 | 1051 | c.106 others(1070): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1044): Show |
intron_variant | MODIFIER | HG03540.hp1 HG03540.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0014 | a0001c0001t0003g0128a0002c0002t0014g0045 | 2 | 238 | 0.0084 | 1051 | c.787 others(1066): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1044): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 238 | 0.0042 | 1051 | c.787 others(1066): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1044): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0026 | 1 | 238 | 0.0042 | 1051 | c.787 others(1066): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1044): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0019 | 1 | 242 | 0.0041 | 1051 | c.927 others(1068): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1044): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0259 | 1 | 318 | 0.0031 | 1051 | c.285 others(1070): 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(1044): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0205 | 1 | 298 | 0.0034 | 1051 | c.955 others(1068): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79200717 | T | TGGAGGTG others(1044): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0007 | a0007c0031 | a0007c0031t0002 | a0007c0031t0002g0251 | 1 | 298 | 0.0034 | 1051 | c.955 others(1068): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1044): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0030 | 1 | 326 | 0.0031 | 1051 | c.327 others(1068): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
CTU2_chr16_88701503_88720396 | 88713210 | T | TGAGAGCC others(1044): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01167.hp1 HG01169.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0014 | 3 | 418 | 0.0072 | 1051 | c.738 others(1064): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1044): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0004 | a0004c0079 | a0004c0079t0001 | a0004c0079t0001g0052 | 1 | 252 | 0.0040 | 1051 | c.118 others(1070): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71618373 | A | ATGTGTGG others(1044): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0173 | 1 | 192 | 0.0052 | 1051 | c.441 others(1070): 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(1044): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0180 | 1 | 208 | 0.0048 | 1051 | c.446 others(1070): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |