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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TM4SF1_chr3_149364022_149382649 | 149380314 | G | GCCCCGCC others(620): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 434 | 0.0023 | 627 | c.-27 others(638): Show |
TM4SF1 | ENSG00000169908.12 | transcript | ENST00000305366.8 | protein_coding | 2666 | chr3 | TogoVar | ||||||
TMEM178B_chr7_141069064_141485380 | 141337158 | T | TCACCACC others(620): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0049 | 1 | 80 | 0.0125 | 627 | c.497 others(648): Show |
TMEM178B | ENSG00000261115.7 | transcript | ENST00000565468.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
TP53AIP1_chr11_128930370_128947871 | 128930756 | C | CAGGGTAG others(620): Show |
downstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 466 | 0.0022 | 627 | c.*48 others(638): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4613 | chr11 | TogoVar | ||||||
TRIM48_chr11_55257155_55276114 | 55273323 | T | TTATATAT others(620): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 272 | 0.0037 | 627 | c.*28 others(638): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2210 | chr11 | TogoVar | ||||||
TRIM48_chr11_55257155_55276114 | 55273358 | T | TTATATAT others(620): Show |
downstream_gene_variant | MODIFIER | HG03225.hp1 HG03516.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005a0001c0001t0002g0076 | 3 | 272 | 0.0110 | 627 | c.*29 others(638): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2245 | chr11 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222105 | C | CACTACCA others(620): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 360 | 0.0028 | 627 | c.*26 others(638): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 2171 | chr6 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370247 | A | ATGTGTGT others(620): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0390 | 1 | 468 | 0.0021 | 627 | c.-6- others(642): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
VSIG4_chrX_66016738_66045080 | 66037121 | A | AATATATA others(620): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0154 | 1 | 218 | 0.0046 | 627 | c.55+ others(642): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | ||||||
VSIG4_chrX_66016738_66045080 | 66037121 | A | AATATATA others(620): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0085 | 1 | 218 | 0.0046 | 627 | c.55+ others(642): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | ||||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(620): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0261 | 1 | 302 | 0.0033 | 627 | c.-1- others(644): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZNF365_chr10_62369369_62407450 | 62370997 | A | ATATATAT others(620): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 | 1 | 350 | 0.0029 | 627 | c.-34 others(638): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3371 | chr10 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1288863 | T | TCCATTCC others(621): Show |
downstream_gene_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0022 | 1 | 295 | 0.0034 | 628 | c.*47 others(639): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3527 | chr1 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11487606 | C | CCCTCCCG others(621): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03710.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0224a0001c0002t0002g0225 | 2 | 292 | 0.0069 | 628 | c.207 others(649): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11487606 | C | CCCTCCCG others(621): Show |
intron_variant | MODIFIER | HG06807.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0149a0001c0001t0005g0245 | 2 | 292 | 0.0069 | 628 | c.207 others(649): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11487606 | C | CCCTCCCG others(621): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0118 | 1 | 292 | 0.0034 | 628 | c.207 others(649): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11487606 | C | CCCTCCCG others(621): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01168.hp2 HG01175.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006 | a0001c0001t0002g0150a0001c0001t0002g0183a0001c0001t0002g0187others(7): Show | 10 | 292 | 0.0343 | 628 | c.207 others(649): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11487606 | C | CCCTCCCG others(621): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0205 | 1 | 292 | 0.0034 | 628 | c.207 others(649): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11487606 | C | CCCTCCCG others(621): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00673.hp2 others(47): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0207a0001c0001t0001g0209a0001c0001t0001g0211others(47): Show | 50 | 292 | 0.1712 | 628 | c.207 others(649): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11487606 | C | CCCTCCCG others(621): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0037 | a0001c0002t0037g0171 | 1 | 292 | 0.0034 | 628 | c.207 others(649): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11487606 | C | CCCTCCCG others(621): Show |
intron_variant | MODIFIER | NA18951.hp1 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0184a0001c0001t0004g0221 | 2 | 292 | 0.0069 | 628 | c.207 others(649): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11487606 | C | CCCTCCCG others(621): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 292 | 0.0034 | 628 | c.207 others(649): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11487606 | C | CCCTCCCG others(621): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0198 | 1 | 292 | 0.0034 | 628 | c.207 others(649): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11487606 | C | CCCTCCCG others(621): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 | 1 | 292 | 0.0034 | 628 | c.207 others(649): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11487606 | C | CCCTCCTG others(621): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 292 | 0.0034 | 628 | c.207 others(649): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP10A_chr15_25673712_25868327 | 25758781 | A | ACTCATTC others(621): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0165 | 1 | 300 | 0.0033 | 628 | c.654 others(647): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835532 | T | TCCACCCC others(621): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 | a0007 | a0007c0014 | a0007c0014t0001 | a0007c0014t0001g0075 | 1 | 391 | 0.0026 | 628 | c.*36 others(639): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3515 | chr19 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 404337 | T | TGAGGGGT others(621): Show |
downstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0019 | 1 | 322 | 0.0031 | 628 | c.*27 others(639): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1107 | chr19 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 404993 | G | GGGGGGAA others(621): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0004 | a0001c0004t0091 | a0001c0004t0091g0052 | 1 | 322 | 0.0031 | 628 | c.*21 others(639): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 451 | chr19 | TogoVar | ||||||
C8orf82_chr8_144520733_144534111 | 144531300 | A | AGCGAGCA others(621): Show |
upstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0006 | 1 | 398 | 0.0025 | 628 | c.-23 others(639): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2190 | chr8 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88888557 | T | TGGGGTGG others(621): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0009 | a0009c0019 | a0009c0019t0001 | a0009c0019t0001g0207 | 1 | 284 | 0.0035 | 628 | c.712 others(645): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
CCDC57_chr17_82096470_82217842 | 82215628 | G | GCACTGCA others(621): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 252 | 0.0040 | 628 | c.-28 others(639): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 2787 | chr17 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882361 | G | GGAGAAGG others(621): Show |
intron_variant | MODIFIER | NA18949.hp2 NA18995.hp2 NA19004.hp1 others(1): Show |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0003a0002c0004t0001 | a0001c0003t0003g0075a0001c0003t0003g0092a0002c0004t0001g0054others(1): Show | 4 | 288 | 0.0139 | 628 | c.303 others(647): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882451 | G | GCGGGGAG others(621): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0174 | 1 | 288 | 0.0035 | 628 | c.303 others(647): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293567 | G | GGCCCACC others(621): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0003 | a0003c0013 | a0003c0013t0002 | a0003c0013t0002g0033 | 1 | 284 | 0.0035 | 628 | c.411 others(645): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
CD247_chr1_167425640_167523529 | 167434947 | C | CTCCTCCA others(621): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0268 | 1 | 374 | 0.0027 | 628 | c.336 others(643): Show |
CD247 | ENSG00000198821.12 | transcript | ENST00000362089.10 | protein_coding | 5/7 | chr1 | TogoVar | ||||||
CDC42SE2_chr5_131259053_131399672 | 131278738 | C | CCTCCCCC others(621): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 256 | 0.0039 | 628 | c.-45 others(649): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(621): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0113 | 1 | 256 | 0.0039 | 628 | c.-45 others(649): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11284197 | G | GGGGATGA others(621): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0181 | 1 | 194 | 0.0052 | 628 | c.842 others(645): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11284197 | G | GGGGATGA others(621): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(56): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(24): Show | a0001c0001t0001g0086a0001c0001t0001g0092a0001c0001t0001g0097others(56): Show | 59 | 194 | 0.3041 | 628 | c.842 others(645): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114278403 | T | TGGTGATA others(621): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0011 | a0011c0110 | a0011c0110t0011 | a0011c0110t0011g0106 | 1 | 308 | 0.0033 | 628 | c.371 others(647): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 37/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COPG2_chr7_130501238_130673748 | 130591387 | A | AAGGAGGT others(621): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209 | 1 | 326 | 0.0031 | 628 | c.737 others(647): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 9/23 | chr7 | TogoVar | ||||||
COPG2_chr7_130501238_130673748 | 130591387 | A | AAGGAGGT others(621): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0240 | 1 | 326 | 0.0031 | 628 | c.737 others(647): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 9/23 | chr7 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131978270 | T | TTTTATAT others(621): Show |
intron_variant | MODIFIER | HG04199.hp1 HG04228.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048a0001c0002t0001g0049 | 2 | 94 | 0.0213 | 628 | c.-2+ others(645): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79684967 | T | TGCGGTGC others(621): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0037 | a0001c0037t0001 | a0001c0037t0001g0079 | 1 | 378 | 0.0027 | 628 | c.314 others(645): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89619342 | C | CCGCTCCC others(621): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 250 | 0.0040 | 628 | c.-10 others(647): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89619397 | C | CCCCCCCG others(621): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 250 | 0.0040 | 628 | c.-10 others(647): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
EIPR1_chr2_3183970_3382818 | 3316036 | A | ATCACCAC others(621): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 250 | 0.0040 | 628 | c.259 others(647): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3316036 | A | ATCACCAC others(621): Show |
intron_variant | MODIFIER | HG02258.hp1 HG06807.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0177a0001c0001t0006g0182a0001c0001t0006g0184 | 3 | 250 | 0.0120 | 628 | c.259 others(647): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3316036 | A | ATCACCAC others(621): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0195 | 1 | 250 | 0.0040 | 628 | c.259 others(647): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586452 | G | GGGGGGAA others(621): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0163 | 1 | 308 | 0.0033 | 628 | c.157 others(645): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |