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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LRRC27_chr10_132327193_132386508 | 132364368 | T | TACACCCA others(4470): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 | 1 | 220 | 0.0045 | 4477 | c.129 others(4496): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(4472): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0005 | a0002c0005t0033 | a0002c0005t0033g0011 | 1 | 212 | 0.0047 | 4479 | c.225 others(4496): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4472): Show |
intron_variant | MODIFIER | HG02004.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 a0001c0001t0001g0200 |
2 | 56 | 0.0357 | 4479 | c.891 others(4494): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333419 | G | GGGATGAG others(4473): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 328 | 0.0030 | 4480 | c.891 others(4495): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4473): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 55 | 0.0182 | 4480 | c.891 others(4495): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1222982 | T | TGCAGTGA others(4473): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0033 | 1 | 168 | 0.0060 | 4480 | c.719 others(4499): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431778 | T | TAGGGTGG others(4475): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0330 | 1 | 322 | 0.0031 | 4482 | c.101 others(4501): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432138 | C | CAGGGTGG others(4475): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0004 | a0004c0009 | a0004c0009t0004 | a0004c0009t0004g0127 a0004c0009t0004g0129 |
2 | 180 | 0.0111 | 4482 | c.101 others(4499): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZBTB42_chr14_104796101_104809712 | 104806614 | A | ACCAGCAT others(4475): Show |
downstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 45 | 0.0222 | 4482 | c.*41 others(4493): Show |
ZBTB42 | ENSG00000179627.10 | transcript | ENST00000342537.8 | protein_coding | 1903 | chr14 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200717 | T | TGGAGGTG others(4477): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0254 | 1 | 251 | 0.0040 | 4484 | c.955 others(4501): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716202 | T | TGGGGGAG others(4478): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0055 | 1 | 159 | 0.0063 | 4485 | c.86- others(4498): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458567 | G | GTTCAGTG others(4478): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0079 | 1 | 263 | 0.0038 | 4485 | c.715 others(4502): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414469 | G | GCTGGGTG others(4478): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0237 | 1 | 110 | 0.0091 | 4485 | c.115 others(4502): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105239448 | A | GCAGCCCT others(4480): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 42 | 0.0238 | 4487 | c.694 others(4504): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(4481): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0077 | 1 | 2 | 0.5000 | 4488 | c.126 others(4505): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TAF11L8_chr5_17585364_17595960 | 17587287 | G | GCTGAAAT others(4481): Show |
downstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 12 | 0.0833 | 4488 | c.*30 others(4499): Show |
TAF11L8 | ENSG00000283967.1 | transcript | ENST00000640803.1 | protein_coding | 3076 | chr5 | TogoVar | |||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(4482): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 8 | 0.1250 | 4489 | c.400 others(4508): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 257978 | T | TACTTCCT others(4482): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 46 | 0.0217 | 4489 | c.439 others(4508): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35914283 | A | AGTGTGTG others(4482): Show |
downstream_gene_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 225 | 0.0044 | 4489 | c.*35 others(4500): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2598 | chr9 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236714823 | T | TACCACTG others(4483): Show |
intron_variant | MODIFIER | NA18953.hp2 NA19062.hp2 |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0003a0002c0008t0004 | a0001c0001t0003g0025 a0002c0008t0004g0026 |
2 | 247 | 0.0081 | 4490 | c.127 others(4507): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811273 | C | CCTTCCTT others(4483): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0005 | 1 | 166 | 0.0060 | 4490 | c.773 others(4505): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714823 | T | TACCACTG others(4484): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02148.hp2 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0006 a0001c0001t0001g0340 a0001c0001t0003g0022 |
3 | 248 | 0.0121 | 4491 | c.127 others(4508): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714972 | A | ATGCAAGA others(4484): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 | 1 | 342 | 0.0029 | 4491 | c.127 others(4508): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714823 | T | TACCACTG others(4485): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01928.hp2 HG02004.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0001a0001c0001t0003a0001c0002t0007others(1): Show | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0003g0027 others(3): Show |
6 | 251 | 0.0239 | 4492 | c.127 others(4509): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714823 | T | TACCACTG others(4486): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0040 | 1 | 246 | 0.0041 | 4493 | c.127 others(4510): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714823 | T | TACCACTG others(4486): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0023 | 1 | 246 | 0.0041 | 4493 | c.127 others(4510): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(4486): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0032 | 1 | 25 | 0.0400 | 4493 | c.206 others(4514): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185090 | C | CCCCTTCT others(4488): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0063 | 1 | 147 | 0.0068 | 4495 | c.193 others(4514): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4490): Show |
upstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 8 | 0.1250 | 4497 | c.-45 others(4506): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
TECTA_chr11_121096243_121196490 | 121186127 | T | TAATGAAT others(4491): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0161 | 1 | 179 | 0.0056 | 4498 | c.600 others(4517): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(4494): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0044 | 1 | 30 | 0.0333 | 4501 | c.*19 others(4512): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | |||||||
BTNL9_chr5_181035266_181066521 | 181045891 | G | GACACCTC others(4495): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0234 | 1 | 29 | 0.0345 | 4502 | c.109 others(4517): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DISC1_chr1_231621790_232046272 | 231799889 | T | TTCCCTCC others(4495): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0035 | 1 | 3 | 0.3333 | 4502 | c.169 others(4519): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BTNL9_chr5_181035266_181066521 | 181045891 | G | GACACCTC others(4496): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 29 | 0.0345 | 4503 | c.109 others(4518): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(4496): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG02895.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0098 a0001c0001t0004g0110 a0001c0001t0004g0121 others(1): Show |
4 | 33 | 0.1212 | 4503 | c.*19 others(4514): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | |||||||
ZFPM1_chr16_88448280_88542031 | 88501188 | C | CATCCCGC others(4496): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0002 | a0002c0002t0040 | a0002c0002t0040g0123 | 1 | 296 | 0.0034 | 4503 | c.268 others(4522): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 3/9 | chr16 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(4497): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 9 | 0.1111 | 4504 | c.642 others(4521): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(4497): Show |
intron_variant | MODIFIER | NA18973.hp1 NA18982.hp2 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0113 a0001c0001t0002g0079 a0001c0001t0002g0123 |
3 | 11 | 0.2727 | 4504 | c.642 others(4521): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FAM20B_chr1_179020894_179081567 | 179032453 | T | TAGGTAAT others(4498): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 406 | 0.0025 | 4505 | c.-13 others(4524): Show |
FAM20B | ENSG00000116199.12 | transcript | ENST00000263733.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4498): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 8 | 0.1250 | 4505 | c.-45 others(4514): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(4499): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0014 | 1 | 212 | 0.0047 | 4506 | c.225 others(4523): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133769 | C | CTCCTCCT others(4500): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 199 | 0.0050 | 4507 | c.*23 others(4518): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2057 | chr19 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157310920 | A | ACTCACCT others(4501): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02738.hp1 HG03704.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 others(1): Show |
4 | 332 | 0.0120 | 4508 | c.327 others(4525): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CCGTATAC others(4502): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 233 | 0.0043 | 4509 | c.366 others(4526): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4504): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 8 | 0.1250 | 4511 | c.-45 others(4520): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(4504): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 283 | 0.0035 | 4511 | c.112 others(4528): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(4505): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 283 | 0.0035 | 4512 | c.112 others(4529): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(4505): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 283 | 0.0035 | 4512 | c.112 others(4529): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(4506): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0074 | a0074c0048 | a0074c0048t0008 | a0074c0048t0008g0091 | 1 | 32 | 0.0313 | 4513 | c.218 others(4528): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(4506): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 283 | 0.0035 | 4513 | c.112 others(4530): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |