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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDC73_chr1_193117031_193259815 | 193162238 | A | ATAATATA others(201): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 274 | 0.0037 | 208 | c.972 others(225): Show |
CDC73 | ENSG00000134371.14 | transcript | ENST00000367435.5 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80390522 | T | TATATATG others(201): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0095 | 1 | 96 | 0.0104 | 208 | c.242 others(227): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP46_chr10_132803392_132947570 | 132887524 | C | CCTCTCCT others(201): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00642.hp2 others(7): Show |
a0004a0033a0041 | a0004c0005a0033c0048a0041c0049 | a0004c0005t0001a0004c0005t0002a0033c0048t0001others(1): Show | a0004c0005t0001g0220a0004c0005t0001g0221a0004c0005t0001g0222others(7): Show | 10 | 246 | 0.0407 | 208 | c.330 others(227): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85911210 | T | TATGAATA others(201): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 245 | 0.0041 | 208 | c.124 others(223): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 9/14 | chrX | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124860414 | C | CCCTTCCT others(201): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02886.hp2 HG02970.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0002t0001a0001c0002t0008 | a0001c0001t0013g0041a0001c0002t0001g0063a0001c0002t0008g0058 | 3 | 64 | 0.0469 | 208 | c.321 others(227): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COBLL1_chr2_164675188_164846823 | 164818272 | G | GTATGTAT others(201): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0052 | 1 | 212 | 0.0047 | 208 | c.41+ others(225): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69921459 | A | ATCATATA others(201): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0175 | 1 | 182 | 0.0055 | 208 | c.267 others(225): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL21A1_chr6_56051590_56252580 | 56098067 | A | ATATAAGT others(201): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0015 | 1 | 264 | 0.0038 | 208 | c.181 others(227): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138806066 | G | GTGTGTGT others(201): Show |
intron_variant | MODIFIER | HG02615.hp1 NA19030.hp2 |
a0002 | a0002c0004a0002c0005 | a0002c0004t0004a0002c0005t0002 | a0002c0004t0004g0094a0002c0005t0002g0092 | 2 | 158 | 0.0127 | 208 | c.149 others(227): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 10/64 | chr8 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255625 | C | CAAGAAGG others(201): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0226 | 1 | 344 | 0.0029 | 208 | c.85- others(225): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203112 | T | TATATATA others(201): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 344 | 0.0029 | 208 | c.88- others(225): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL6A1_chr21_45976770_46010048 | 45999971 | G | GATCATGG others(201): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0125 | 1 | 128 | 0.0078 | 208 | c.177 others(225): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COMMD10_chr5_116080025_116298287 | 116158170 | C | CCTCCCTC others(201): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 350 | 0.0029 | 208 | c.510 others(227): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
COMMD10_chr5_116080025_116298287 | 116158291 | C | CTCCCTCT others(201): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 350 | 0.0029 | 208 | c.510 others(227): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | chr5 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89588191 | G | GCCCCCGT others(201): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0274 | 1 | 348 | 0.0029 | 208 | c.928 others(223): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CPT1C_chr19_49686116_49718731 | 49702080 | A | AATAAATA others(201): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160a0001c0001t0001g0161 | 2 | 350 | 0.0057 | 208 | c.693 others(223): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CR1L_chr1_207640133_207728703 | 207686116 | C | CTCCATCC others(201): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0130 | 1 | 346 | 0.0029 | 208 | c.463 others(225): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CRKL_chr22_20912407_20958747 | 20955490 | A | ATATATAT others(201): Show |
downstream_gene_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0318 | 1 | 370 | 0.0027 | 208 | c.*56 others(219): Show |
CRKL | ENSG00000099942.13 | transcript | ENST00000354336.8 | protein_coding | 1744 | chr22 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240924189 | C | CACACTGA others(201): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0009 | a0009c0010 | a0009c0010t0003 | a0009c0010t0003g0219 | 1 | 350 | 0.0029 | 208 | c.489 others(225): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240924481 | C | CCCTCACA others(201): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0216 | 1 | 350 | 0.0029 | 208 | c.489 others(225): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924657 | C | CCCCCACA others(201): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01175.hp2 others(15): Show |
a0001a0002a0011others(1): Show | a0001c0001a0002c0002a0002c0012others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0095a0001c0001t0001g0156a0001c0001t0002g0248others(15): Show | 18 | 350 | 0.0514 | 208 | c.489 others(225): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924657 | C | CCCCCACA others(201): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0017 | a0017c0063 | a0017c0063t0004 | a0017c0063t0004g0310 | 1 | 350 | 0.0029 | 208 | c.489 others(225): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CTSS_chr1_150725188_150770778 | 150744433 | T | TATATTAT others(201): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0214 | 1 | 344 | 0.0029 | 208 | c.896 others(225): Show |
CTSS | ENSG00000163131.12 | transcript | ENST00000368985.8 | protein_coding | 7/7 | chr1 | TogoVar | ||||||
CTU2_chr16_88701503_88720396 | 88712921 | C | CCCCCTTC others(201): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02965.hp1 |
a0004 | a0004c0012 | a0004c0012t0001 | a0004c0012t0001g0031 | 2 | 418 | 0.0048 | 208 | c.737 others(221): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CTU2_chr16_88701503_88720396 | 88712921 | C | CCCCCTTC others(201): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0004 | a0004c0012 | a0004c0012t0001 | a0004c0012t0001g0138 | 1 | 418 | 0.0024 | 208 | c.737 others(221): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DBNL_chr7_44039702_44074456 | 44043563 | A | ATGTGTGT others(201): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG03942.hp2 |
a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0007 | 2 | 380 | 0.0053 | 208 | c.-11 others(219): Show |
DBNL | ENSG00000136279.21 | transcript | ENST00000448521.6 | protein_coding | 1138 | chr7 | TogoVar | ||||||
DCC_chr18_52335197_53540899 | 53429030 | A | AATAAATT others(201): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01069.hp1 HG01884.hp1 others(3): Show |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0003a0001c0003t0013a0001c0003t0028others(2): Show | a0001c0003t0003g0041a0001c0003t0003g0073a0001c0003t0013g0075others(3): Show | 6 | 114 | 0.0526 | 208 | c.316 others(227): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DCXR_chr17_82030858_82042697 | 82034806 | T | TGGTCCCG others(201): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008 | 1 | 422 | 0.0024 | 208 | c.*11 others(219): Show |
DCXR | ENSG00000169738.8 | transcript | ENST00000306869.7 | protein_coding | 1051 | chr17 | TogoVar | ||||||
DEPDC1B_chr5_60591912_60705166 | 60667541 | A | AAAAAATG others(201): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 292 | 0.0034 | 208 | c.314 others(227): Show |
DEPDC1B | ENSG00000035499.13 | transcript | ENST00000265036.10 | protein_coding | 2/10 | chr5 | TogoVar | ||||||
DEPDC1B_chr5_60591912_60705166 | 60668061 | T | TTATATAT others(201): Show |
intron_variant | MODIFIER | HG00544.hp1 NA19074.hp2 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041a0001c0001t0001g0045a0001c0001t0001g0063 | 3 | 292 | 0.0103 | 208 | c.314 others(227): Show |
DEPDC1B | ENSG00000035499.13 | transcript | ENST00000265036.10 | protein_coding | 2/10 | chr5 | TogoVar | ||||||
DEPDC1B_chr5_60591912_60705166 | 60668061 | T | TTATATAT others(201): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 292 | 0.0034 | 208 | c.314 others(227): Show |
DEPDC1B | ENSG00000035499.13 | transcript | ENST00000265036.10 | protein_coding | 2/10 | chr5 | TogoVar | ||||||
DEPDC1B_chr5_60591912_60705166 | 60668137 | T | TTATATAT others(201): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01256.hp2 HG01258.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036a0001c0001t0001g0038a0001c0001t0001g0042others(4): Show | 7 | 292 | 0.0240 | 208 | c.314 others(227): Show |
DEPDC1B | ENSG00000035499.13 | transcript | ENST00000265036.10 | protein_coding | 2/10 | chr5 | TogoVar | ||||||
DEPDC1B_chr5_60591912_60705166 | 60668159 | T | TTTTATAT others(201): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 292 | 0.0034 | 208 | c.314 others(227): Show |
DEPDC1B | ENSG00000035499.13 | transcript | ENST00000265036.10 | protein_coding | 2/10 | chr5 | TogoVar | ||||||
DGAT1_chr8_144309584_144331852 | 144313788 | G | GCGCCGCC others(201): Show |
downstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 370 | 0.0027 | 208 | c.*27 others(219): Show |
DGAT1 | ENSG00000185000.12 | transcript | ENST00000528718.6 | protein_coding | 795 | chr8 | TogoVar | ||||||
DGKG_chr3_186142201_186367234 | 186355203 | C | CCAACACC others(201): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0116 | 1 | 234 | 0.0043 | 208 | c.-24 others(227): Show |
DGKG | ENSG00000058866.15 | transcript | ENST00000265022.8 | protein_coding | 1/24 | chr3 | TogoVar | ||||||
DHRS12_chr13_51762993_51809163 | 51775137 | A | ATGTATTC others(201): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 420 | 0.0024 | 208 | c.364 others(225): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50593816 | T | TCTCCCCT others(201): Show |
intron_variant | MODIFIER | HG01943.hp2 HG01975.hp1 HG01993.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117a0001c0001t0001g0145a0001c0001t0001g0162 | 3 | 284 | 0.0106 | 208 | c.101 others(227): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50593816 | T | TCTCCCCT others(201): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 284 | 0.0035 | 208 | c.101 others(227): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2C_chr10_269201_694668 | 478371 | G | GGGGAGAG others(201): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02004.hp1 |
a0001 | a0001c0006 | a0001c0006t0001a0001c0006t0002 | a0001c0006t0001g0045a0001c0006t0002g0038 | 2 | 88 | 0.0227 | 208 | c.158 others(225): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 516665 | G | GGTGGGGG others(201): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0045 | 1 | 88 | 0.0114 | 208 | c.86- others(225): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DNAAF5_chr7_721699_791475 | 746313 | T | TCCCCCGC others(201): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0050 | 1 | 378 | 0.0027 | 208 | c.102 others(227): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAAF5_chr7_721699_791475 | 746313 | T | TCCCCCGC others(201): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0226 | 1 | 378 | 0.0027 | 208 | c.102 others(227): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAAF5_chr7_721699_791475 | 746324 | T | TCATGCCT others(201): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 378 | 0.0027 | 208 | c.102 others(227): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DOP1A_chr6_83062671_83173471 | 83145192 | A | ATATATAT others(201): Show |
intron_variant | MODIFIER | HG00621.hp2 NA18988.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0109a0002c0002t0002g0116 | 2 | 298 | 0.0067 | 208 | c.554 others(225): Show |
DOP1A | ENSG00000083097.15 | transcript | ENST00000349129.7 | protein_coding | 24/38 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DOP1A_chr6_83062671_83173471 | 83145192 | A | ATATATAT others(201): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0117 | 1 | 298 | 0.0034 | 208 | c.554 others(225): Show |
DOP1A | ENSG00000083097.15 | transcript | ENST00000349129.7 | protein_coding | 24/38 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DPH7_chr9_137549444_137583925 | 137568382 | T | TGTGAGGA others(201): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0023 | 1 | 340 | 0.0029 | 208 | c.641 others(225): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
DYNC1LI1_chr3_32520974_32575858 | 32538048 | A | ATTTATAT others(201): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0057 | 1 | 336 | 0.0030 | 208 | c.739 others(223): Show |
DYNC1LI1 | ENSG00000144635.9 | transcript | ENST00000273130.9 | protein_coding | 5/12 | chr3 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110083967 | G | GATATAAC others(201): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG02559.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0044a0001c0001t0073others(1): Show | a0001c0001t0021g0018a0001c0001t0021g0107a0001c0001t0044g0100others(2): Show | 5 | 338 | 0.0148 | 208 | c.221 others(227): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110083967 | G | GATATAAC others(201): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 | 1 | 338 | 0.0030 | 208 | c.221 others(227): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
ENTPD8_chr9_137429364_137446357 | 137436327 | G | GCCCCTCC others(201): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 392 | 0.0026 | 208 | c.787 others(221): Show |
ENTPD8 | ENSG00000188833.10 | transcript | ENST00000371506.7 | protein_coding | 6/9 | chr9 | TogoVar |