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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HIGD1C_chr12_50947544_50975607 | 50948889 | G | GGGGAGGG others(88): Show |
upstream_gene_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 380 | 0.0026 | 95 | c.-38 others(106): Show |
HIGD1C | ENSG00000214511.4 | transcript | ENST00000695931.1 | protein_coding | 3654 | chr12 | TogoVar | |||||||
HIVEP1_chr6_12007312_12169999 | 12167636 | T | TTACATGT others(88): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00642.hp1 HG00738.hp2 others(27): Show |
a0002a0019a0035 | a0002c0002a0002c0007a0019c0030others(1): Show | a0002c0002t0001a0002c0002t0008a0002c0007t0001others(2): Show | a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0023 others(27): Show |
30 | 344 | 0.0872 | 95 | c.*31 others(106): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 2638 | chr6 | TogoVar | |||||||
HIVEP1_chr6_12007312_12169999 | 12167661 | T | TTACATGT others(88): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0054 | 1 | 344 | 0.0029 | 95 | c.*32 others(106): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 2663 | chr6 | TogoVar | |||||||
HMCN1_chr1_185729391_186195949 | 186005287 | A | AATTTTTT others(88): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0005 | 1 | 92 | 0.0109 | 95 | c.447 others(114): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HMOX1_chr22_35376096_35399207 | 35389339 | T | TTTCTTTC others(88): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 384 | 0.0026 | 95 | c.637 others(110): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
HMOX1_chr22_35376096_35399207 | 35389340 | T | TTCTTTCT others(88): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 384 | 0.0026 | 95 | c.637 others(110): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 3/4 | chr22 | TogoVar | |||||||
HNF1B_chr17_37681431_37750059 | 37729966 | C | CCCTGCTC others(88): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG00735.hp2 others(58): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 others(58): Show |
61 | 409 | 0.1491 | 95 | c.104 others(114): Show |
HNF1B | ENSG00000275410.6 | transcript | ENST00000617811.5 | protein_coding | 4/8 | chr17 | TogoVar | |||||||
HOXA3_chr7_27102010_27157583 | 27114817 | A | ATATATAT others(88): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0295 | 1 | 326 | 0.0031 | 95 | c.-12 others(114): Show |
HOXA3 | ENSG00000105997.23 | transcript | ENST00000612286.5 | protein_coding | 4/5 | chr7 | TogoVar | |||||||
HOXC8_chr12_54003985_54017769 | 54014001 | T | TCTCCTCT others(88): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0001 | 1 | 306 | 0.0033 | 95 | c.*26 others(106): Show |
HOXC8 | ENSG00000037965.6 | transcript | ENST00000040584.6 | protein_coding | 1233 | chr12 | TogoVar | |||||||
HSD17B14_chr19_48808018_48841491 | 48810605 | G | GGAGGTCT others(88): Show |
downstream_gene_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 394 | 0.0025 | 95 | c.*24 others(106): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 2412 | chr19 | TogoVar | |||||||
IFITM10_chr11_1727406_1755595 | 1754533 | A | AGGGATGG others(88): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 406 | 0.0025 | 95 | c.-40 others(106): Show |
IFITM10 | ENSG00000244242.2 | transcript | ENST00000340134.5 | protein_coding | 3939 | chr11 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322704 | A | AATATATA others(88): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0017 | 1 | 323 | 0.0031 | 95 | c.-23 others(106): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2265 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323136 | T | TATATATA others(88): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0005 | a0001c0005t0013 | a0001c0005t0013g0098 | 1 | 323 | 0.0031 | 95 | c.-19 others(106): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1833 | chr21 | TogoVar | |||||||
IL33_chr9_6210807_6262983 | 6218675 | C | CATATATA others(88): Show |
intron_variant | MODIFIER | NA18951.hp2 NA19070.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0210 a0001c0002t0002g0211 |
2 | 362 | 0.0055 | 95 | c.-12 others(112): Show |
IL33 | ENSG00000137033.12 | transcript | ENST00000682010.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
IMPA1_chr8_81651914_81691325 | 81684771 | G | GTATATAT others(88): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0062 | 1 | 380 | 0.0026 | 95 | c.-25 others(112): Show |
IMPA1 | ENSG00000133731.10 | transcript | ENST00000256108.10 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
INPP5D_chr2_233055342_233212903 | 233144607 | G | GGTGATGG others(88): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0150 | 1 | 310 | 0.0032 | 95 | c.754 others(112): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
IRS2_chr13_109747695_109791583 | 109765934 | C | CCAACTCC others(88): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02572.hp2 |
a0001 | a0001c0007a0001c0018 | a0001c0007t0026a0001c0018t0026 | a0001c0007t0026g0059 a0001c0018t0026g0048 |
2 | 398 | 0.0050 | 95 | c.401 others(114): Show |
IRS2 | ENSG00000185950.9 | transcript | ENST00000375856.5 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
ISOC2_chr19_55447985_55466642 | 55459270 | C | CAAATGTT others(88): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 380 | 0.0026 | 95 | c.-4+ others(110): Show |
ISOC2 | ENSG00000063241.8 | transcript | ENST00000425675.7 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26772491 | C | CATGTATT others(88): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0003 | a0003c0038 | a0003c0038t0009 | a0003c0038t0009g0012 | 1 | 142 | 0.0070 | 95 | c.163 others(114): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 2/56 | chr12 | TogoVar | |||||||
ITSN2_chr2_24197864_24365536 | 24264675 | T | TGTCGAAA others(88): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02486.hp1 |
a0003a0004 | a0003c0016a0004c0004 | a0003c0016t0001a0004c0004t0001 | a0003c0016t0001g0201 a0004c0004t0001g0006 |
2 | 224 | 0.0089 | 95 | c.235 others(114): Show |
ITSN2 | ENSG00000198399.16 | transcript | ENST00000355123.9 | protein_coding | 20/39 | chr2 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6067579 | G | GCACTCAA others(88): Show |
intron_variant | MODIFIER | NA18942.hp2 NA18966.hp1 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 a0001c0001t0001g0103 a0001c0001t0001g0148 |
3 | 233 | 0.0129 | 95 | c.130 others(114): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 8/20 | chr4 | TogoVar | |||||||
JARID2_chr6_15241069_15527042 | 15469354 | T | TCCTCCCC others(88): Show |
intron_variant | MODIFIER | HG03516.hp1 HG03540.hp2 HG03710.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006a0001c0002t0021others(1): Show | a0001c0002t0001g0129 a0001c0002t0001g0176 a0001c0002t0006g0073 others(2): Show |
5 | 284 | 0.0176 | 95 | c.670 others(110): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37712483 | T | TCTCTTCC others(88): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(26): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0112a0001c0003t0015a0001c0003t0048others(26): Show | a0001c0001t0112g0131 a0001c0003t0015g0182 a0001c0003t0048g0082 others(26): Show |
29 | 198 | 0.1465 | 95 | c.946 others(112): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63445726 | G | GCCCTGTC others(88): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01099.hp2 HG01175.hp1 others(8): Show |
a0001a0002 | a0001c0002a0002c0001a0002c0011 | a0001c0002t0025a0001c0002t0080a0002c0001t0005others(3): Show | a0001c0002t0025g0210 a0001c0002t0080g0235 a0002c0001t0005g0212 others(7): Show |
11 | 330 | 0.0333 | 95 | c.388 others(110): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 2/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63445992 | A | ACCCTGTC others(88): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(61): Show |
a0001a0002a0005others(1): Show | a0001c0003a0001c0008a0001c0009others(4): Show | a0001c0003t0003a0001c0003t0010a0001c0003t0013others(23): Show | a0001c0003t0003g0265 a0001c0003t0003g0266 a0001c0003t0003g0274 others(61): Show |
64 | 330 | 0.1939 | 95 | c.388 others(110): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 2/16 | chr20 | TogoVar | |||||||
KHSRP_chr19_6408102_6429811 | 6429100 | T | TATATATA others(88): Show |
upstream_gene_variant | MODIFIER | HG03239.hp2 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0027 a0001c0001t0013g0054 |
2 | 386 | 0.0052 | 95 | c.-44 others(106): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4290 | chr19 | TogoVar | |||||||
KIF16B_chr20_16267104_16578448 | 16395221 | G | GGAGAGGG others(88): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 a0001c0001t0002g0177 |
2 | 250 | 0.0080 | 95 | c.178 others(114): Show |
KIF16B | ENSG00000089177.20 | transcript | ENST00000354981.7 | protein_coding | 17/25 | chr20 | TogoVar | |||||||
KIF17_chr1_20659014_20723007 | 20712608 | A | ATATATAA others(88): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02630.hp2 HG02895.hp2 others(2): Show |
a0001a0008 | a0001c0068a0008c0020a0008c0069 | a0001c0068t0001a0008c0020t0007a0008c0020t0015others(1): Show | a0001c0068t0001g0296 a0008c0020t0007g0293 a0008c0020t0007g0294 others(2): Show |
5 | 414 | 0.0121 | 95 | c.480 others(110): Show |
KIF17 | ENSG00000117245.13 | transcript | ENST00000400463.8 | protein_coding | 3/14 | chr1 | TogoVar | |||||||
KIF17_chr1_20659014_20723007 | 20712738 | A | AATATAGA others(88): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(84): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0004a0001c0028others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0005others(40): Show | a0001c0001t0001g0017 a0001c0001t0001g0189 a0001c0001t0001g0190 others(84): Show |
87 | 414 | 0.2101 | 95 | c.480 others(110): Show |
KIF17 | ENSG00000117245.13 | transcript | ENST00000400463.8 | protein_coding | 3/14 | chr1 | TogoVar | |||||||
KLHL1_chr13_69695597_70113452 | 69931029 | T | TTACTATC others(88): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 182 | 0.0055 | 95 | c.101 others(114): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 4/10 | chr13 | TogoVar | |||||||
KLHL23_chr2_169728832_169756878 | 169738990 | C | CCCTCCTC others(88): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0065 | 1 | 400 | 0.0025 | 95 | c.121 others(114): Show |
KLHL23 | ENSG00000213160.10 | transcript | ENST00000392647.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LCN15_chr9_136754634_136769518 | 136769232 | C | CCCGCCAC others(88): Show |
upstream_gene_variant | MODIFIER | NA19080.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 356 | 0.0028 | 95 | c.-47 others(106): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 4715 | chr9 | TogoVar | |||||||
LCP2_chr5_170241233_170302777 | 170278386 | C | CGAGGGGG others(88): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 384 | 0.0026 | 95 | c.189 others(112): Show |
LCP2 | ENSG00000043462.13 | transcript | ENST00000046794.10 | protein_coding | 3/20 | chr5 | TogoVar | |||||||
LCP2_chr5_170241233_170302777 | 170278469 | T | TGGGGGGC others(88): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02922.hp2 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 others(1): Show |
4 | 384 | 0.0104 | 95 | c.189 others(112): Show |
LCP2 | ENSG00000043462.13 | transcript | ENST00000046794.10 | protein_coding | 3/20 | chr5 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124506896 | G | GTAGGGAG others(88): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 260 | 0.0039 | 95 | c.624 others(112): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LIG4_chr13_108202442_108220536 | 108215427 | C | CACCTCCC others(88): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 374 | 0.0027 | 95 | c.-10 others(110): Show |
LIG4 | ENSG00000174405.15 | transcript | ENST00000442234.6 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
LIMK1_chr7_74078804_74127525 | 74126471 | C | CAAAAAAA others(88): Show |
downstream_gene_variant | MODIFIER | NA19068.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0009 | 1 | 302 | 0.0033 | 95 | c.*51 others(106): Show |
LIMK1 | ENSG00000106683.15 | transcript | ENST00000336180.7 | protein_coding | 3947 | chr7 | TogoVar | |||||||
LIPM_chr10_88797730_88825546 | 88808910 | C | CATTTTAT others(88): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0122 | 1 | 462 | 0.0022 | 95 | c.265 others(110): Show |
LIPM | ENSG00000173239.14 | transcript | ENST00000404743.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 857706 | C | CAGTGTTG others(88): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0049 | 1 | 294 | 0.0034 | 95 | c.153 others(114): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 858855 | A | ACGGGACG others(88): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02572.hp1 |
a0001a0004 | a0001c0019a0004c0018 | a0001c0019t0001a0004c0018t0001 | a0001c0019t0001g0099 a0004c0018t0001g0083 |
2 | 294 | 0.0068 | 95 | c.153 others(114): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859181 | G | GTGTCTTG others(88): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0291 | 1 | 294 | 0.0034 | 95 | c.153 others(114): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF2_chr22_50497949_50512702 | 50504145 | A | ACCCCCGG others(88): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0028 | a0001c0028t0009 | a0001c0028t0009g0121 | 1 | 414 | 0.0024 | 95 | c.171 others(112): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | |||||||
LMF2_chr22_50497949_50512702 | 50504145 | A | ACCCCCGG others(88): Show |
intron_variant | MODIFIER | HG01256.hp2 HG02257.hp2 HG02258.hp1 others(5): Show |
a0001 | a0001c0006a0001c0011a0001c0014others(1): Show | a0001c0006t0001a0001c0011t0001a0001c0014t0001others(1): Show | a0001c0006t0001g0009 a0001c0011t0001g0141 a0001c0011t0001g0176 others(2): Show |
8 | 414 | 0.0193 | 95 | c.171 others(112): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | |||||||
LOC114841035_chr11_64236095_64249132 | 64237123 | G | GAGAGAGA others(88): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 330 | 0.0030 | 95 | c.-41 others(106): Show |
LOC114841035 | ENSG00000286264.2 | transcript | ENST00000652762.2 | protein_coding | 3971 | chr11 | TogoVar | |||||||
LOC114841035_chr11_64236095_64249132 | 64237123 | G | GAGAGAGA others(88): Show |
upstream_gene_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 330 | 0.0030 | 95 | c.-41 others(106): Show |
LOC114841035 | ENSG00000286264.2 | transcript | ENST00000652762.2 | protein_coding | 3971 | chr11 | TogoVar | |||||||
LOC128125818_chr4_6059977_6075162 | 6067579 | G | GCACTCAA others(88): Show |
intron_variant | MODIFIER | HG02132.hp2 NA18942.hp2 NA18966.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0070 a0001c0001t0001g0150 others(2): Show |
6 | 462 | 0.0130 | 95 | c.106 others(112): Show |
LOC128125818 | ENSG00000284684.1 | transcript | ENST00000636216.1 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
LRCOL1_chr12_132598151_132615582 | 132598423 | T | TCCTCTCC others(88): Show |
downstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 390 | 0.0026 | 95 | c.*49 others(106): Show |
LRCOL1 | ENSG00000204583.10 | transcript | ENST00000376608.9 | protein_coding | 4727 | chr12 | TogoVar | |||||||
LSP1_chr11_1848084_1897263 | 1872286 | G | GGGCACTT others(88): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0272 | 1 | 360 | 0.0028 | 95 | c.54- others(110): Show |
LSP1 | ENSG00000130592.17 | transcript | ENST00000311604.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LSP1_chr11_1848084_1897263 | 1872286 | G | GGGCACTT others(88): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0273 | 1 | 360 | 0.0028 | 95 | c.54- others(110): Show |
LSP1 | ENSG00000130592.17 | transcript | ENST00000311604.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LUC7L_chr16_183990_234449 | 187190 | G | GGAGGAAC others(88): Show |
downstream_gene_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 350 | 0.0029 | 95 | c.*20 others(106): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 1799 | chr16 | TogoVar |