view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNJ6_chr21_37602373_37921457 | 37717427 | GTGGGTGT others(43): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG02083.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0018a0001c0003t0051a0001c0003t0114 | a0001c0001t0018g0104a0001c0003t0051g0005a0001c0003t0114g0116 | 3 | 198 | 0.0152 | -50 | c.26- others(65): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
KCNMB1_chr5_170369671_170394367 | 170393942 | TTAAAAAA others(43): Show |
T | upstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0022 | 1 | 432 | 0.0023 | -50 | c.-47 others(61): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 4576 | chr5 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759725 | TACACATA others(43): Show |
T | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0202 | 1 | 232 | 0.0043 | -50 | c.-67 others(69): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63399163 | GTGTGGGG others(43): Show |
G | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02559.hp2 HG02896.hp2 others(3): Show |
a0001a0006 | a0001c0002a0006c0025 | a0001c0002t0023a0001c0002t0085a0006c0025t0086 | a0001c0002t0023g0026a0001c0002t0023g0103a0001c0002t0023g0105others(3): Show | 6 | 330 | 0.0182 | -50 | c.*74 others(61): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1044 | chr20 | TogoVar | |||||||
KCP_chr7_128871865_128915709 | 128896023 | GGGTCTGG others(43): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0009 | a0009c0012 | a0009c0012t0002 | a0009c0012t0002g0134 | 1 | 372 | 0.0027 | -50 | c.832 others(67): Show |
KCP | ENSG00000135253.16 | transcript | ENST00000610776.5 | protein_coding | 8/39 | chr7 | TogoVar | |||||||
KCTD8_chr4_44168903_44453809 | 44181176 | TGGTCTCC others(43): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(102): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0011a0001c0001t0001g0016a0001c0001t0001g0018others(102): Show | 105 | 294 | 0.3571 | -50 | c.962 others(67): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
KDM6A_chrX_44868188_45117779 | 45040661 | CCGGGCGG others(43): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG01168.hp1 HG01169.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097a0001c0001t0002g0098a0001c0001t0002g0116others(3): Show | 6 | 199 | 0.0302 | -50 | c.654 others(67): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KDM6A_chrX_44868188_45117779 | 45041090 | ACCTCCCG others(43): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 199 | 0.0050 | -50 | c.654 others(67): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KDM7A_chr7_140079746_140181983 | 140100661 | TATATATA others(43): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02717.hp1 HG02723.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0016a0001c0001t0021others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0042a0001c0001t0001g0058others(10): Show | 15 | 344 | 0.0436 | -50 | c.163 others(67): Show |
KDM7A | ENSG00000006459.11 | transcript | ENST00000397560.7 | protein_coding | 12/19 | chr7 | TogoVar | |||||||
KDM7A_chr7_140079746_140181983 | 140100693 | TATATATA others(43): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG01884.hp2 HG01952.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0009a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0034a0001c0001t0037others(8): Show | a0001c0001t0001g0033a0001c0001t0001g0067a0001c0001t0001g0075others(21): Show | 24 | 344 | 0.0698 | -50 | c.163 others(67): Show |
KDM7A | ENSG00000006459.11 | transcript | ENST00000397560.7 | protein_coding | 12/19 | chr7 | TogoVar | |||||||
KIAA1671_chr22_24947716_25202448 | 25180036 | TCTGAAAG others(43): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00609.hp2 others(82): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0004a0001c0013others(39): Show | a0001c0001t0001a0001c0001t0013a0001c0004t0001others(48): Show | a0001c0001t0001g0050a0001c0001t0001g0054a0001c0001t0001g0081others(82): Show | 85 | 254 | 0.3347 | -50 | c.507 others(69): Show |
KIAA1671 | ENSG00000197077.14 | transcript | ENST00000358431.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KIAA1958_chr9_112481827_112674397 | 112515011 | CGCCCCGT others(43): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0261 | 1 | 308 | 0.0033 | -50 | c.-25 others(69): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
KIAA1958_chr9_112481827_112674397 | 112515031 | TGGGGGGG others(43): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG02083.hp1 HG02486.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0063 | a0001c0001t0002g0011a0001c0001t0002g0012a0001c0001t0002g0149others(4): Show | 7 | 308 | 0.0227 | -50 | c.-25 others(69): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KIDINS220_chr2_8723858_8842613 | 8744379 | AAAAAAAA others(43): Show |
A | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0139a0005c0009t0001g0174 | 2 | 334 | 0.0060 | -50 | c.358 others(69): Show |
KIDINS220 | ENSG00000134313.17 | transcript | ENST00000256707.8 | protein_coding | 26/29 | chr2 | TogoVar | |||||||
KIF17_chr1_20659014_20723007 | 20712632 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | HG04204.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0102 | 1 | 414 | 0.0024 | -50 | c.480 others(65): Show |
KIF17 | ENSG00000117245.13 | transcript | ENST00000400463.8 | protein_coding | 3/14 | chr1 | TogoVar | |||||||
KIF21A_chr12_39288228_39448120 | 39416665 | ATATATGT others(43): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02257.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022a0001c0001t0002g0023a0001c0001t0002g0024others(2): Show | 5 | 298 | 0.0168 | -50 | c.44+ others(67): Show |
KIF21A | ENSG00000139116.19 | transcript | ENST00000361418.10 | protein_coding | 1/37 | chr12 | TogoVar | |||||||
KIF21A_chr12_39288228_39448120 | 39416683 | GTGTGTAT others(43): Show |
G | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 298 | 0.0034 | -50 | c.44+ others(67): Show |
KIF21A | ENSG00000139116.19 | transcript | ENST00000361418.10 | protein_coding | 1/37 | chr12 | TogoVar | |||||||
KLF12_chr13_73681089_74139404 | 73957015 | AGAAAGGA others(43): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01175.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(13): Show | a0001c0001t0001g0039a0001c0001t0001g0047a0001c0001t0001g0083others(20): Show | 23 | 120 | 0.1917 | -50 | c.34- others(67): Show |
KLF12 | ENSG00000118922.19 | transcript | ENST00000703967.1 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87704487 | AGGGTCCT others(43): Show |
A | downstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 380 | 0.0026 | -50 | c.*35 others(61): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 3324 | chr16 | TogoVar | |||||||
KPNA2_chr17_68030735_68051854 | 68045352 | ACGTTTAG others(43): Show |
A | intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0051 | 1 | 340 | 0.0029 | -50 | c.134 others(67): Show |
KPNA2 | ENSG00000182481.10 | transcript | ENST00000330459.8 | protein_coding | 9/10 | chr17 | TogoVar | |||||||
KPNA7_chr7_99168572_99213115 | 99180769 | GTCTCTCT others(43): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG01975.hp1 HG02148.hp1 others(7): Show |
a0001a0005 | a0001c0002a0001c0005a0005c0019 | a0001c0002t0001a0001c0005t0001a0005c0019t0001 | a0001c0002t0001g0094a0001c0002t0001g0116a0001c0002t0001g0118others(7): Show | 10 | 334 | 0.0299 | -50 | c.131 others(69): Show |
KPNA7 | ENSG00000185467.8 | transcript | ENST00000327442.7 | protein_coding | 9/10 | chr7 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409897 | GAGCCCCT others(43): Show |
G | upstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 370 | 0.0027 | -50 | c.-36 others(61): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 3563 | chr12 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409938 | TGGGGGGG others(43): Show |
T | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02723.hp1 HG02818.hp1 others(8): Show |
a0002a0003a0007others(1): Show | a0002c0002a0003c0003a0007c0006others(1): Show | a0002c0002t0012a0003c0003t0002a0003c0003t0004others(3): Show | a0002c0002t0012g0097a0003c0003t0002g0060a0003c0003t0002g0084others(5): Show | 11 | 370 | 0.0297 | -50 | c.-37 others(61): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 3604 | chr12 | TogoVar | |||||||
L3MBTL2_chr22_41200312_41236271 | 41202081 | AATATTTT others(43): Show |
A | upstream_gene_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0250 | 1 | 370 | 0.0027 | -50 | c.-32 others(61): Show |
L3MBTL2 | ENSG00000100395.15 | transcript | ENST00000216237.10 | protein_coding | 3230 | chr22 | TogoVar | |||||||
LANCL2_chr7_55360337_55438737 | 55402267 | TCCCGGAC others(43): Show |
T | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0193 | 1 | 352 | 0.0028 | -50 | c.825 others(66): Show |
LANCL2 | ENSG00000132434.10 | transcript | ENST00000254770.3 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LARP1_chr5_154750377_154822605 | 154755208 | GCGCGCCG others(43): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171a0001c0001t0001g0172 | 2 | 304 | 0.0066 | -50 | c.-54 others(59): Show |
LARP1 | ENSG00000155506.19 | transcript | ENST00000518297.6 | protein_coding | 168 | chr5 | TogoVar | |||||||
LASP1NB_chr17_38920614_38934381 | 38930757 | TGGGGGGC others(43): Show |
T | downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 422 | 0.0024 | -50 | c.*44 others(61): Show |
LASP1NB | ENSG00000263874.3 | transcript | ENST00000583195.3 | protein_coding | 1377 | chr17 | TogoVar | |||||||
LAT2_chr7_74205006_74234834 | 74214231 | TATATATG others(43): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0306 | 1 | 344 | 0.0029 | -50 | c.-21 others(67): Show |
LAT2 | ENSG00000086730.17 | transcript | ENST00000460943.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LCTL_chr15_66542532_66570998 | 66568863 | CACACACA others(43): Show |
C | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01516.hp1 NA18962.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083a0001c0001t0001g0087a0001c0001t0001g0173 | 3 | 434 | 0.0069 | -50 | c.-30 others(61): Show |
LCTL | ENSG00000188501.12 | transcript | ENST00000695545.1 | protein_coding | 2866 | chr15 | TogoVar | |||||||
LCTL_chr15_66542532_66570998 | 66568871 | CACACATA others(43): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 434 | 0.0023 | -50 | c.-30 others(61): Show |
LCTL | ENSG00000188501.12 | transcript | ENST00000695545.1 | protein_coding | 2874 | chr15 | TogoVar | |||||||
LDB2_chr4_16496541_16903645 | 16897896 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 162 | 0.0062 | -50 | c.132 others(65): Show |
LDB2 | ENSG00000169744.13 | transcript | ENST00000304523.10 | protein_coding | 1/7 | chr4 | TogoVar | |||||||
LDHAL6A_chr11_18450856_18484601 | 18467919 | ACACACAC others(43): Show |
A | intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057 | 1 | 420 | 0.0024 | -50 | c.418 others(67): Show |
LDHAL6A | ENSG00000166800.11 | transcript | ENST00000280706.3 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
LETM1_chr4_1806479_1861156 | 1828052 | CCCCCCAC others(43): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG03471.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0161a0001c0001t0001g0162a0001c0001t0002g0160 | 3 | 200 | 0.0150 | -50 | c.108 others(69): Show |
LETM1 | ENSG00000168924.15 | transcript | ENST00000302787.3 | protein_coding | 6/13 | chr4 | TogoVar | |||||||
LGALS16_chr19_39650913_39665647 | 39659145 | GTTGGAGG others(43): Show |
G | intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 442 | 0.0023 | -50 | c.303 others(65): Show |
LGALS16 | ENSG00000249861.4 | transcript | ENST00000392051.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
LGI2_chr4_24993847_25035946 | 25033261 | ACATCTTG others(43): Show |
A | upstream_gene_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 454 | 0.0022 | -50 | c.-26 others(61): Show |
LGI2 | ENSG00000153012.12 | transcript | ENST00000382114.9 | protein_coding | 2316 | chr4 | TogoVar | |||||||
LHFPL6_chr13_39337892_39608193 | 39352922 | TAAATGTA others(43): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG02165.hp1 HG02257.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0004a0001c0001t0005a0002c0004t0004 | a0001c0001t0004g0051a0001c0001t0004g0092a0001c0001t0004g0101others(5): Show | 8 | 242 | 0.0331 | -50 | c.485 others(67): Show |
LHFPL6 | ENSG00000183722.9 | transcript | ENST00000379589.4 | protein_coding | 3/3 | chr13 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124507392 | TATTTCAG others(43): Show |
T | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 260 | 0.0039 | -50 | c.624 others(67): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507623 | TGTGGAGG others(43): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG04199.hp1 NA18970.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0065a0001c0001t0001g0184a0001c0001t0001g0244others(1): Show | 4 | 260 | 0.0154 | -50 | c.624 others(67): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507660 | GAGTATTT others(43): Show |
G | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 260 | 0.0039 | -50 | c.625 others(67): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507746 | TGTGGAGG others(43): Show |
T | intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 260 | 0.0039 | -50 | c.625 others(67): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LIG3_chr17_34975512_35014743 | 35003538 | GTCCTGAC others(43): Show |
G | intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0009 | a0001c0009t0056 | a0001c0009t0056g0193 | 1 | 424 | 0.0024 | -50 | c.279 others(67): Show |
LIG3 | ENSG00000005156.12 | transcript | ENST00000378526.9 | protein_coding | 19/19 | chr17 | TogoVar | |||||||
LILRA5_chr19_54302070_54318166 | 54308333 | GTGTATAT others(43): Show |
G | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0062 | 1 | 409 | 0.0024 | -50 | c.713 others(65): Show |
LILRA5 | ENSG00000187116.14 | transcript | ENST00000432233.8 | protein_coding | 5/6 | chr19 | TogoVar | |||||||
LINGO2_chr9_27932617_29218601 | 28376993 | GGAATATT others(43): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG02451.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019a0001c0001t0027 | a0001c0001t0001g0016a0001c0001t0019g0053a0001c0001t0027g0030 | 3 | 62 | 0.0484 | -50 | c.-22 others(69): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 4/6 | chr9 | TogoVar | |||||||
LINGO2_chr9_27932617_29218601 | 28766789 | GGAGAGAG others(43): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG02109.hp1 HG02109.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0012others(7): Show | a0001c0001t0004g0039a0001c0001t0010g0001a0001c0001t0012g0005others(7): Show | 10 | 62 | 0.1613 | -50 | c.-39 others(71): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
LINS1_chr15_100561924_100607184 | 100583182 | CATGGCCC others(43): Show |
C | intron_variant | MODIFIER | HG02895.hp2 NA19240.hp1 |
a0002 | a0002c0002 | a0002c0002t0020 | a0002c0002t0020g0126a0002c0002t0020g0172 | 2 | 430 | 0.0047 | -50 | c.-10 others(69): Show |
LINS1 | ENSG00000140471.17 | transcript | ENST00000314742.13 | protein_coding | 1/6 | chr15 | TogoVar | |||||||
LIPG_chr18_49557057_49604185 | 49577689 | CGGGGGGC others(43): Show |
C | intron_variant | MODIFIER | HG02071.hp1 HG02622.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0038a0001c0001t0094a0001c0001t0096 | a0001c0001t0038g0025a0001c0001t0038g0172a0001c0001t0094g0030others(1): Show | 4 | 384 | 0.0104 | -50 | c.793 others(67): Show |
LIPG | ENSG00000101670.12 | transcript | ENST00000261292.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LMAN2_chr5_177326567_177356668 | 177326786 | GGAAAGAA others(43): Show |
G | downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 376 | 0.0027 | -50 | c.*52 others(61): Show |
LMAN2 | ENSG00000169223.16 | transcript | ENST00000303127.12 | protein_coding | 4780 | chr5 | TogoVar | |||||||
LONRF2_chr2_100266875_100327501 | 100282797 | AAAACTAA others(43): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(322): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0004a0001c0006others(24): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0013others(121): Show | a0001c0002t0002g0001a0001c0002t0002g0013a0001c0002t0002g0022others(243): Show | 325 | 368 | 0.8832 | -50 | c.*14 others(61): Show |
LONRF2 | ENSG00000170500.13 | transcript | ENST00000393437.8 | protein_coding | 12/12 | 1451 | chr2 | TogoVar | ||||||
LPA_chr6_160526482_160669275 | 160654035 | TTATATAT others(43): Show |
T | intron_variant | MODIFIER | HG03704.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0064 | 1 | 148 | 0.0068 | -50 | c.50- others(65): Show |
LPA | ENSG00000198670.13 | transcript | ENST00000316300.10 | protein_coding | 1/38 | chr6 | TogoVar | |||||||
LPCAT1_chr5_1456427_1528960 | 1501887 | GCACTGAC others(43): Show |
G | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 386 | 0.0026 | -50 | c.136 others(65): Show |
LPCAT1 | ENSG00000153395.10 | transcript | ENST00000283415.4 | protein_coding | 1/13 | chr5 | TogoVar |