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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(998): Show |
upstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 1 | 318 | 0.0031 | 1005 | c.-49 others(1016): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MMP26_chr11_4699784_4997429 | 4822140 | T | TCAACACC others(998): Show |
intron_variant | MODIFIER | HG03130.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139a0001c0001t0001g0204 | 2 | 206 | 0.0097 | 1005 | c.-14 others(1026): Show |
MMP26 | ENSG00000167346.9 | transcript | ENST00000380390.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MRPL28_chr16_361969_375538 | 370364 | G | GCTACCCC others(998): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0009 | 1 | 394 | 0.0025 | 1005 | c.-8+ others(1018): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195776130 | C | CCATACCT others(998): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0006 | a0006c0131 | a0006c0131t0002 | a0006c0131t0002g0015 | 1 | 249 | 0.0040 | 1005 | c.129 others(1026): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(998): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0008 | a0008c0011 | a0008c0011t0010 | a0008c0011t0010g0152 | 1 | 266 | 0.0038 | 1005 | c.-34 others(1020): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
OR51F2_chr11_4816321_4827456 | 4822140 | T | TCAACACC others(998): Show |
intragenic_variant | MODIFIER | HG03130.hp2 NA18522.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0000 | 2 | 406 | 0.0049 | 1005 | n.482 others(1020): Show |
OR51F2 | ENSG00000176925.8 | gene_variant | ENSG00000176925.8 | chr11 | TogoVar | ||||||||
PIEZO1_chr16_88710338_88790220 | 88712963 | G | GCCCCCTT others(998): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 | a0082 | a0082c0113 | a0082c0113t0001 | a0082c0113t0001g0223 | 1 | 282 | 0.0036 | 1005 | c.*26 others(1016): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2374 | chr16 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(998): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0042 | 1 | 308 | 0.0033 | 1005 | c.371 others(1022): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(998): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0010 | a0010c0009 | a0010c0009t0001 | a0010c0009t0001g0090 | 1 | 334 | 0.0030 | 1005 | c.45- others(1020): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 255953 | T | TGTGACTA others(998): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0073 | 1 | 133 | 0.0075 | 1005 | c.439 others(1022): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 256732 | G | GTCTGTCC others(998): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 133 | 0.0075 | 1005 | c.439 others(1022): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(998): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 412 | 0.0024 | 1005 | c.-48 others(1016): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | ||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(998): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG02572.hp2 HG02895.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 4 | 412 | 0.0097 | 1005 | c.-48 others(1016): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | ||||||
RXRA_chr9_134321455_134445585 | 134394154 | G | GGTGATGG others(998): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0100 | 1 | 232 | 0.0043 | 1005 | c.29- others(1020): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SEPTIN9_chr17_77276499_77505593 | 77484737 | T | TGGTGATG others(998): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0102 | 1 | 150 | 0.0067 | 1005 | c.913 others(1022): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SEPTIN9_chr17_77314518_77505593 | 77484737 | T | TGGTGATG others(998): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0145 | 1 | 158 | 0.0063 | 1005 | c.859 others(1022): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SNPH_chr20_1261294_1314327 | 1302096 | A | ATTTCTAA others(998): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0288 | 1 | 350 | 0.0029 | 1005 | c.440 others(1022): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SNPH_chr20_1261294_1314327 | 1302498 | A | ATTTCTAA others(998): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 350 | 0.0029 | 1005 | c.440 others(1022): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SNPH_chr20_1261294_1314327 | 1302498 | A | ATTTCTAA others(998): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 350 | 0.0029 | 1005 | c.440 others(1022): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SNPH_chr20_1261294_1314327 | 1302498 | A | ATTTCTAA others(998): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173a0001c0001t0001g0294 | 2 | 350 | 0.0057 | 1005 | c.440 others(1022): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(998): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 258 | 0.0039 | 1005 | c.113 others(1024): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TP53AIP1_chr11_128930370_128947871 | 128930893 | T | TGGGGTTA others(998): Show |
downstream_gene_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0088 | 1 | 466 | 0.0022 | 1005 | c.*46 others(1016): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4476 | chr11 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670452 | G | GTGCACCC others(998): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0202 | 1 | 394 | 0.0025 | 1005 | c.129 others(1022): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(998): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 246 | 0.0041 | 1005 | c.-10 others(1022): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
ZBTB8OS_chr1_32615820_32655550 | 32642777 | T | TTTTTTTT others(998): Show |
intron_variant | MODIFIER | HG02055.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0206a0001c0001t0009g0057 | 2 | 314 | 0.0064 | 1005 | c.97+ others(1020): Show |
ZBTB8OS | ENSG00000176261.16 | transcript | ENST00000468695.6 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
ZBTB8OS_chr1_32615820_32655550 | 32642777 | T | TTTTTTTT others(998): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0230 | 1 | 314 | 0.0032 | 1005 | c.97+ others(1020): Show |
ZBTB8OS | ENSG00000176261.16 | transcript | ENST00000468695.6 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
ZBTB8OS_chr1_32615820_32655550 | 32642777 | T | TTTTTTTT others(998): Show |
intron_variant | MODIFIER | HG02083.hp2 NA18952.hp2 NA18993.hp2 |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0022 | a0001c0002t0007g0055a0001c0002t0007g0216a0001c0002t0022g0218 | 3 | 314 | 0.0096 | 1005 | c.97+ others(1020): Show |
ZBTB8OS | ENSG00000176261.16 | transcript | ENST00000468695.6 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAGATAAA others(999): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0111 | 1 | 306 | 0.0033 | 1006 | c.130 others(1025): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAGATAAA others(999): Show |
intron_variant | MODIFIER | NA18986.hp2 NA19063.hp1 |
a0001 | a0001c0006a0001c0030 | a0001c0006t0002a0001c0030t0002 | a0001c0006t0002g0138a0001c0030t0002g0116 | 2 | 306 | 0.0065 | 1006 | c.130 others(1025): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113419002 | T | TCCTCCCT others(999): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0004 | a0004c0005 | a0004c0005t0099 | a0004c0005t0099g0085 | 1 | 262 | 0.0038 | 1006 | c.106 others(1025): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4713900 | C | CTACACAT others(999): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0100 | 1 | 462 | 0.0022 | 1006 | c.564 others(1021): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 4/4 | chr9 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(999): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01106.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0099others(4): Show | 7 | 238 | 0.0294 | 1006 | c.787 others(1021): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARHGEF10L_chr1_17534698_17702869 | 17689515 | C | CCCCTCCC others(999): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0018 | a0002c0018t0002 | a0002c0018t0002g0155 | 1 | 168 | 0.0060 | 1006 | c.318 others(1025): Show |
ARHGEF10L | ENSG00000074964.17 | transcript | ENST00000361221.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(999): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0306 | 1 | 318 | 0.0031 | 1006 | c.285 others(1025): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(999): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 318 | 0.0031 | 1006 | c.285 others(1025): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
C10orf67_chr10_23197696_23349797 | 23331540 | A | AAGGGAAA others(999): Show |
intron_variant | MODIFIER | HG00597.hp2 HG03688.hp2 NA18972.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147a0001c0001t0001g0263a0001c0001t0001g0307 | 3 | 326 | 0.0092 | 1006 | c.327 others(1023): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
CCDC63_chr12_110841987_110912535 | 110880708 | G | GTGATGGT others(999): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0015 | a0015c0019 | a0015c0019t0002 | a0015c0019t0002g0188 | 1 | 288 | 0.0035 | 1006 | c.672 others(1021): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CCDC88C_chr14_91266323_91422820 | 91293498 | A | ACCCGCCA others(999): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 284 | 0.0035 | 1006 | c.411 others(1023): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20356388 | T | TAGTGTGA others(999): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 236 | 0.0042 | 1006 | c.351 others(1025): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
HLA-DQB1_chr6_32654467_32671657 | 32667887 | C | CCTGGTGT others(999): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00741.hp1 HG01109.hp2 others(31): Show |
a0009a0010 | a0009c0010a0010c0009 | a0009c0010t0001a0010c0009t0001a0010c0009t0010others(2): Show | a0009c0010t0001g0009a0010c0009t0001g0030a0010c0009t0010g0018others(4): Show | 34 | 402 | 0.0846 | 1006 | c.-12 others(1017): Show |
HLA-DQB1 | ENSG00000179344.17 | transcript | ENST00000434651.7 | protein_coding | 1231 | chr6 | TogoVar | ||||||
HLA-DQB1_chr6_32654467_32671657 | 32667887 | C | CCTGGTGT others(999): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG01167.hp2 others(38): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0002a0004c0004t0001g0034a0004c0004t0001g0035 | 41 | 402 | 0.1020 | 1006 | c.-12 others(1017): Show |
HLA-DQB1 | ENSG00000179344.17 | transcript | ENST00000434651.7 | protein_coding | 1231 | chr6 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997213 | G | GCGGGGGA others(999): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 | a0010 | a0010c0013 | a0010c0013t0018 | a0010c0013t0018g0273 | 1 | 375 | 0.0027 | 1006 | c.-22 others(1017): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 457 | chr6 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(999): Show |
upstream_gene_variant | MODIFIER | NA18970.hp2 NA18975.hp1 NA19085.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 3 | 422 | 0.0071 | 1006 | c.-30 others(1017): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(999): Show |
upstream_gene_variant | MODIFIER | HG02148.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0001 | 1 | 422 | 0.0024 | 1006 | c.-30 others(1017): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | ||||||
LRRC7_chr1_69562922_70149364 | 69916109 | T | TATATATA others(999): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0026 | 1 | 108 | 0.0093 | 1006 | c.648 others(1025): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LRRC7_chr1_69562922_70149364 | 69916142 | T | TATATATT others(999): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0089 | a0001c0001t0089g0095 | 1 | 108 | 0.0093 | 1006 | c.648 others(1025): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(999): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0209 | 1 | 278 | 0.0036 | 1006 | c.115 others(1023): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PJA2_chr5_109329722_109414974 | 109354170 | G | GTCTATAG others(999): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0299 | 1 | 346 | 0.0029 | 1006 | c.176 others(1025): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109354358 | T | TATGATAT others(999): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0002 | 1 | 346 | 0.0029 | 1006 | c.176 others(1025): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109354358 | T | TATGATAT others(999): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0303 | 1 | 346 | 0.0029 | 1006 | c.176 others(1025): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar |