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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RTEL1_chr20_63653312_63701245 | 63693591 | T | TCCACCAC others(3143): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0026 | 1 | 60 | 0.0167 | 3150 | c.299 others(3167): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ZFPM1_chr16_88448280_88542031 | 88501132 | G | GGGCCCTC others(3143): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0251 | 1 | 318 | 0.0031 | 3150 | c.268 others(3169): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
IFNAR1_chr21_33319970_33364864 | 33322912 | T | TATATATA others(3144): Show |
upstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 323 | 0.0031 | 3151 | c.-21 others(3162): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2057 | chr21 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585487 | C | CCTTTCCA others(3144): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 279 | 0.0036 | 3151 | c.215 others(3168): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TUBA4B_chr2_219248243_219277197 | 219270701 | C | CCCGTCCC others(3144): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0211 | 1 | 350 | 0.0029 | 3151 | c.192 others(3166): Show |
TUBA4B | ENSG00000243910.9 | transcript | ENST00000490341.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DOCK2_chr5_169632275_170088382 | 169949675 | T | TCAATGTG others(3145): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0144 | 1 | 184 | 0.0054 | 3152 | c.280 others(3173): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(3145): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0243 | 1 | 318 | 0.0031 | 3152 | c.-91 others(3173): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
PHF20_chr20_35767015_35955370 | 35829527 | G | GTAGAGAT others(3145): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0191 | 1 | 206 | 0.0049 | 3152 | c.84- others(3169): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432051 | G | GGTGGTTA others(3145): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0312 | 1 | 376 | 0.0027 | 3152 | c.101 others(3169): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CUX2_chr12_111029165_111355554 | 111325930 | T | TTGGGGAG others(3146): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0054 | 1 | 100 | 0.0100 | 3153 | c.292 others(3172): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(3146): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0241 | 1 | 318 | 0.0031 | 3153 | c.-91 others(3174): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163229 | C | CCCCTCCC others(3146): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0215 | 1 | 282 | 0.0036 | 3153 | c.258 others(3170): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3146): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0013 | a0013c0126 | a0013c0126t0001 | a0013c0126t0001g0065 | 1 | 186 | 0.0054 | 3153 | c.723 others(3170): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
SPINK6_chr5_148198042_148220137 | 148202752 | T | TAAGAATC others(3146): Show |
upstream_gene_variant | MODIFIER | NA18612.hp1 NA19056.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0008 | 2 | 438 | 0.0046 | 3153 | c.-34 others(3162): Show |
SPINK6 | ENSG00000178172.7 | transcript | ENST00000325630.3 | protein_coding | 289 | chr5 | TogoVar | ||||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(3146): Show |
intron_variant | MODIFIER | HG01943.hp1 NA20300.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0002t0046 | a0001c0001t0014g0106a0001c0002t0046g0108 | 2 | 362 | 0.0055 | 3153 | c.-18 others(3174): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(3147): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0137 | 1 | 298 | 0.0034 | 3154 | c.955 others(3171): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3147): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 264 | 0.0038 | 3154 | c.400 others(3173): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3147): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 264 | 0.0038 | 3154 | c.400 others(3173): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GTPBP6_chrX_299759_323796 | 323694 | G | GTGTGTGT others(3147): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 | a0020 | a0020c0025 | a0020c0025t0002 | a0020c0025t0002g0051 | 1 | 155 | 0.0065 | 3154 | c.-49 others(3165): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4899 | chrX | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163273 | C | CCCTCCAC others(3147): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0004 | a0004c0008 | a0004c0008t0002 | a0004c0008t0002g0130 | 1 | 282 | 0.0036 | 3154 | c.258 others(3171): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163273 | C | CCCTCCAC others(3147): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01175.hp1 NA20129.hp1 |
a0001a0004 | a0001c0002a0004c0008 | a0001c0002t0002a0004c0008t0052 | a0001c0002t0002g0182a0001c0002t0002g0240a0004c0008t0052g0247 | 3 | 282 | 0.0106 | 3154 | c.258 others(3171): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163273 | C | CCCTCCAC others(3147): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0021 | a0021c0032 | a0021c0032t0001 | a0021c0032t0001g0108 | 1 | 282 | 0.0036 | 3154 | c.258 others(3171): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NBPF10_chr1_146059711_146149804 | 146098266 | C | CAGACAGA others(3147): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0214 | a0214c0229 | a0214c0229t0003 | a0214c0229t0003g0275 | 1 | 283 | 0.0035 | 3154 | c.624 others(3171): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 49/89 | chr1 | TogoVar | ||||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(3147): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0093 | 1 | 362 | 0.0028 | 3154 | c.-18 others(3175): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(3147): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0094 | 1 | 362 | 0.0028 | 3154 | c.-18 others(3175): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(3147): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0258 | 1 | 362 | 0.0028 | 3154 | c.-18 others(3175): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3148): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0091 | 1 | 264 | 0.0038 | 3155 | c.400 others(3174): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163240 | C | CCCCTCCA others(3148): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0003 | a0003c0010 | a0003c0010t0007 | a0003c0010t0007g0268 | 1 | 282 | 0.0036 | 3155 | c.258 others(3172): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(3148): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02622.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0100a0001c0002t0002g0138 | 2 | 158 | 0.0127 | 3155 | c.284 others(3174): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758725 | C | CCTCATTC others(3149): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0050 | 1 | 300 | 0.0033 | 3156 | c.654 others(3175): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
CCDC40_chr17_80031642_80105613 | 80052959 | T | TGAAAACT others(3149): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0279 | 1 | 378 | 0.0027 | 3156 | c.115 others(3175): Show |
CCDC40 | ENSG00000141519.15 | transcript | ENST00000397545.9 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3149): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 431 | 0.0023 | 3156 | c.*85 others(3167): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333123 | C | CGGATAAG others(3149): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 370 | 0.0027 | 3156 | c.891 others(3173): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(3149): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 345 | 0.0029 | 3156 | c.*17 others(3167): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | ||||||
DOCK2_chr5_169632275_170088382 | 169949675 | T | TCAATGTG others(3149): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0172 | 1 | 184 | 0.0054 | 3156 | c.280 others(3177): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(3149): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 421 | 0.0024 | 3156 | c.*22 others(3167): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3149): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0003a0001c0001t0005g0005 | 2 | 268 | 0.0075 | 3156 | c.139 others(3177): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10399271 | C | CCACCACC others(3149): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 314 | 0.0032 | 3156 | c.-25 others(3173): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(3149): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0041 | 1 | 318 | 0.0031 | 3156 | c.-91 others(3177): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
LSM1_chr8_38158339_38181493 | 38177527 | G | GCCCCCCC others(3149): Show |
upstream_gene_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 402 | 0.0025 | 3156 | c.-12 others(3167): Show |
LSM1 | ENSG00000175324.10 | transcript | ENST00000311351.9 | protein_coding | 1035 | chr8 | TogoVar | ||||||
PPARG_chr3_12284070_12439344 | 12402441 | T | TCAAACAT others(3149): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 294 | 0.0034 | 3156 | c.530 others(3173): Show |
PPARG | ENSG00000132170.24 | transcript | ENST00000651735.1 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2539624 | C | CTTCATAA others(3150): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0032 | a0001c0032t0031 | a0001c0032t0031g0103 | 1 | 104 | 0.0096 | 3157 | c.139 others(3178): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GTGGGGAA others(3150): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 316 | 0.0032 | 3157 | c.44- others(3170): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | chr14 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50604179 | A | ACTCTGAA others(3150): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0041 | 1 | 284 | 0.0035 | 3157 | c.101 others(3176): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50604179 | A | ACTCTGAA others(3150): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0047 | 1 | 284 | 0.0035 | 3157 | c.101 others(3176): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
EIF3B_chr7_2349827_2385745 | 2378082 | C | CTGTGAAT others(3150): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0176 | 1 | 384 | 0.0026 | 3157 | c.215 others(3174): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945197 | T | TCCCCTCT others(3150): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0243 | 1 | 264 | 0.0038 | 3157 | c.400 others(3176): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EXD3_chr9_137301896_137428162 | 137355478 | A | AGGAGGAA others(3150): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0012 | a0012c0012 | a0012c0012t0001 | a0012c0012t0001g0006 | 1 | 82 | 0.0122 | 3157 | c.758 others(3172): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | ||||||
MED16_chr19_862963_898187 | 871889 | A | AGAGGGGA others(3150): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 56 | 0.0179 | 3157 | c.209 others(3172): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157313377 | T | TCAGTGTG others(3150): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02109.hp2 HG02451.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0274a0001c0001t0008g0316a0001c0001t0008g0317others(1): Show | 4 | 344 | 0.0116 | 3157 | c.327 others(3174): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar |