Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KPNA6_chr1_32103056_32181563	32179687	AGGCGGGA others(29): Show AGGCGGGAGCAGGCGGCTGGCCGGCAGCAGTTACTCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	244	0.0041	-36	c.87 others(47): Show c.8794_*8829delGGCGGGAGCAGGCGGCTGGCCGGCAGCAGTTACT CG	KPNA6	ENSG00000025800.14	transcript	ENST00000373625.8	protein_coding		3125		chr1	TogoVar
KPNA7_chr7_99168572_99213115	99181085	CTCTCTCT others(29): Show CTCTCTCTCTCCGTCTGTGTCTCTCTCTCCGTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01943.hp1 HG02040.hp1 others(9): Show HG00741.hp2 HG01943.hp1 HG02040.hp1 HG02273.hp1 HG02486.hp2 HG02818.hp2 NA18971.hp2 NA19004.hp1 NA19056.hp1 NA19057.hp2 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0010 a0001c0018	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0010t0001 a0001c0018t0001	a0001c0001t0001g0296 a0001c0003t0001g0024 a0001c0003t0001g0025 others(9): Show a0001c0001t0001g0296 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0034 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0063 a0001c0004t0001g0038 a0001c0004t0001g0039 a0001c0010t0001g0229 a0001c0010t0001g0255 a0001c0018t0001g0286	12	334	0.0359	-36	c.131 others(53): Show c.1317+762_1317+797delCACAGACGGAGAGAGAGACACAGACGGA GAGAGAGA	KPNA7	ENSG00000185467.8	transcript	ENST00000327442.7	protein_coding	9/10			chr7	TogoVar
KRT24_chr17_40692991_40708752	40701723	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02135.hp2 HG02145.hp1 others(23): Show HG01891.hp1 HG02135.hp2 HG02145.hp1 HG02451.hp2 HG02886.hp2 HG02922.hp2 HG02976.hp2 HG03017.hp2 HG03139.hp2 HG03491.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04199.hp2 NA18747.hp2 NA18945.hp1 NA18951.hp2 NA18954.hp2 NA18968.hp1 NA18979.hp2 NA18984.hp2 NA18990.hp2 NA19009.hp2 NA19062.hp1 NA19064.hp1 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0083 a0002c0002t0001g0002 a0002c0002t0001g0075 others(6): Show a0001c0001t0001g0083 a0002c0002t0001g0002 a0002c0002t0001g0075 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0003c0003t0001g0027 a0003c0003t0001g0153 a0003c0003t0001g0154	26	424	0.0613	-36	c.698 others(50): Show c.698+92_698+127delTATATATATATATATATATATATATATATAT ATATA	KRT24	ENSG00000167916.5	transcript	ENST00000264651.3	protein_coding	2/7			chr17	TogoVar
KRT2_chr12_52639558_52657211	52640202	AAGTAATC others(29): Show AAGTAATCAGAAATTTCAAGTCTAATTAGTTACAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0094 a0001c0003t0001g0094	1	466	0.0022	-36	c.47 others(47): Show c.4781_*4816delATTTGTAACTAATTAGACTTGAAATTTCTGATTA CT	KRT2	ENSG00000172867.4	transcript	ENST00000309680.4	protein_coding		4355		chr12	TogoVar
KRT35_chr17_41471710_41486151	41479296	CTCCCCCA others(29): Show CTCCCCCATGCTCACCTGCTGTGCCGTGTTCACCTTT	C C	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0044 a0002c0002t0001g0044	1	448	0.0022	-36	c.711 others(49): Show c.711+15_711+50delAAAGGTGAACACGGCACAGCAGGTGAGCATGG GGGA	KRT35	ENSG00000197079.9	transcript	ENST00000246639.7	protein_coding	3/6			chr17	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310330	GAAGAAAG others(29): Show GAAGAAAGAAAAGAAGAAAGAAAGAAAGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01257.hp2 HG01361.hp2 others(28): Show HG00544.hp2 HG01257.hp2 HG01361.hp2 HG02129.hp1 HG02129.hp2 HG02572.hp1 HG02738.hp1 HG02818.hp2 HG03239.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG04115.hp2 NA18939.hp2 NA18940.hp2 NA18948.hp1 NA18965.hp1 NA18968.hp2 NA18972.hp1 NA18977.hp1 NA18983.hp2 NA18985.hp2 NA18987.hp1 NA18999.hp2 NA19003.hp1 NA19058.hp2 NA19060.hp2 NA19066.hp1 NA19077.hp2 NA19078.hp2 NA19085.hp2	a0002 a0007 a0010 a0002 a0007 a0010	a0002c0002 a0007c0009 a0010c0019 a0002c0002 a0007c0009 a0010c0019	a0002c0002t0001 a0007c0009t0001 a0010c0019t0001 a0002c0002t0001 a0007c0009t0001 a0010c0019t0001	a0002c0002t0001g0000 a0007c0009t0001g0000 a0010c0019t0001g0000 a0002c0002t0001g0000 a0007c0009t0001g0000 a0010c0019t0001g0000	31	421	0.0736	-36	c.-11 others(47): Show c.-1113_-1078delTCTTTCTTTCTTTCTTTCTTTCTTCTTTTCTTTC TT	KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding		1022		chr17	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310330	GAAGAAAG others(29): Show GAAGAAAGAAAAGAAGAAAGAAAGAAAGAAAGAAAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01257.hp1 HG01361.hp2 others(28): Show HG00544.hp2 HG01257.hp1 HG01361.hp2 HG02129.hp1 HG02129.hp2 HG02572.hp1 HG02738.hp1 HG02818.hp2 HG03239.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG04115.hp2 NA18939.hp2 NA18940.hp1 NA18948.hp2 NA18961.hp1 NA18961.hp2 NA18965.hp2 NA18968.hp1 NA18972.hp1 NA18977.hp1 NA18983.hp2 NA18987.hp2 NA18999.hp2 NA19003.hp2 NA19058.hp1 NA19060.hp2 NA19066.hp1 NA19077.hp1 NA19078.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0002 a0001c0003t0001 a0002c0002t0002	a0001c0003t0001g0000 a0002c0002t0002g0000 a0001c0003t0001g0000 a0002c0002t0002g0000	31	413	0.0751	-36	c.49 others(47): Show c.4967_*5002delTCTTTCTTTCTTTCTTTCTTTCTTCTTTTCTTTC TT	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding		4581		chr17	TogoVar
KRTAP4-4_chr17_41154649_41165748	41158501	GGAAGAAG others(29): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0000 a0002c0002t0003g0000	1	420	0.0024	-36	c.16 others(47): Show c.1654_*1689delTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TC	KRTAP4-4	ENSG00000171396.12	transcript	ENST00000390661.5	protein_coding		1147		chr17	TogoVar
KRTAP9-3_chr17_41227449_41238454	41235859	GGAAGGAA others(29): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA19240.hp2 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	2	439	0.0046	-36	c.28 others(47): Show c.2879_*2914delGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AA	KRTAP9-3	ENSG00000204873.5	transcript	ENST00000411528.4	protein_coding		2406		chr17	TogoVar
KRTAP9-8_chr17_41232999_41244004	41235859	GGAAGGAA others(29): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA19240.hp2 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	435	0.0046	-36	c.-21 others(47): Show c.-2192_-2157delGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AA	KRTAP9-8	ENSG00000187272.7	transcript	ENST00000254072.7	protein_coding		2139		chr17	TogoVar
KSR2_chr12_117448012_117973990	117794071	TACACCAA others(29): Show TACACCAACATGCACACTCACACCAACATGCACACTC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp1 HG03486.hp1 HG02109.hp2 HG02615.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0127 a0001c0003t0005 a0001c0008t0037 a0001c0001t0127 a0001c0003t0005 a0001c0008t0037	a0001c0001t0127g0120 a0001c0003t0005g0141 a0001c0008t0037g0004 a0001c0001t0127g0120 a0001c0003t0005g0141 a0001c0008t0037g0004	3	196	0.0153	-36	c.473 others(55): Show c.473-32583_473-32548delGAGTGTGCATGTTGGTGTGAGTGTGC ATGTTGGTGT	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	3/19			chr12	TogoVar
KSR2_chr12_117448012_117973990	117797725	ACCATCCT others(29): Show ACCATCCTGGGCTCAAACCATCCTGGGCTCAAACCAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00609.hp2 others(20): Show HG00323.hp1 HG00438.hp2 HG00609.hp2 HG01071.hp1 HG01106.hp2 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01978.hp2 HG02004.hp1 HG02040.hp1 HG02572.hp2 HG02895.hp2 HG03209.hp1 HG03239.hp2 HG03491.hp1 NA18944.hp2 NA18959.hp2 NA18964.hp1 NA18973.hp1 NA18983.hp2 NA19011.hp1 NA19066.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0005c0017	a0001c0001t0001 a0001c0001t0009 a0001c0001t0044 others(18): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0044 a0001c0001t0045 a0001c0001t0064 a0001c0001t0097 a0001c0001t0107 a0001c0001t0143 a0001c0002t0001 a0001c0002t0002 a0001c0002t0011 a0001c0002t0031 a0001c0002t0038 a0001c0002t0039 a0001c0002t0051 a0001c0002t0124 a0001c0002t0147 a0001c0004t0006 a0001c0005t0054 a0001c0006t0016 a0005c0017t0001	a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0009g0184 others(20): Show a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0009g0184 a0001c0001t0044g0019 a0001c0001t0045g0017 a0001c0001t0064g0058 a0001c0001t0097g0132 a0001c0001t0107g0111 a0001c0001t0143g0182 a0001c0002t0001g0112 a0001c0002t0002g0086 a0001c0002t0002g0158 a0001c0002t0011g0018 a0001c0002t0031g0005 a0001c0002t0038g0021 a0001c0002t0039g0023 a0001c0002t0051g0034 a0001c0002t0124g0123 a0001c0002t0147g0188 a0001c0004t0006g0090 a0001c0005t0054g0036 a0001c0006t0016g0081 a0005c0017t0001g0124	23	196	0.1174	-36	c.473 others(55): Show c.473-36237_473-36202delATGGTTTGAGCCCAGGATGGTTTGAG CCCAGGATGG	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	3/19			chr12	TogoVar
KTN1_chr14_55575207_55689579	55682491	TTACCTTA others(29): Show TTACCTTATCTTGGAACCAGTTTATAGAATCCTGTTG	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0111 a0012c0013t0001g0111	1	314	0.0032	-36	c.407 others(55): Show c.4070-1607_4070-1572delTACCTTATCTTGGAACCAGTTTATAG AATCCTGTTG	KTN1	ENSG00000126777.18	transcript	ENST00000395314.8	protein_coding	43/43			chr14	TogoVar
KYNU_chr2_142872664_143060833	143042596	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp1 NA18951.hp1 NA19082.hp2 others(1): Show HG02055.hp1 NA18951.hp1 NA19082.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0133 a0001c0001t0134 a0001c0001t0190 others(1): Show a0001c0001t0133 a0001c0001t0134 a0001c0001t0190 a0001c0001t0191	a0001c0001t0133g0133 a0001c0001t0134g0136 a0001c0001t0190g0145 others(1): Show a0001c0001t0133g0133 a0001c0001t0134g0136 a0001c0001t0190g0145 a0001c0001t0191g0152	4	332	0.0121	-36	c.42 others(45): Show c.426_*461delATATATATATATATATATATATATATATATATATGT	KYNU	ENSG00000115919.15	transcript	ENST00000264170.9	protein_coding	14/14	426	INFO_REALIGN_3_PRIME	chr2	TogoVar
L3MBTL1_chr20_43502697_43546895	43527561	GTGTGTGT others(29): Show GTGTGTGTGCACATAGGCTGTGTGTGTGCACATAGGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(81): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01168.hp1 HG01175.hp2 HG01257.hp1 HG01358.hp1 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG02071.hp1 HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG02895.hp1 HG02965.hp2 HG02970.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18906.hp1 NA18945.hp2 NA18947.hp2 NA18960.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18967.hp2 NA18970.hp2 NA18980.hp2 NA18984.hp1 NA18985.hp1 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19009.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp2 NA19075.hp1 NA19076.hp2 NA19080.hp2 NA19083.hp1 NA19086.hp2 NA19088.hp1 NA19091.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0008	a0001c0001 a0001c0014 a0002c0002 others(4): Show a0001c0001 a0001c0014 a0002c0002 a0002c0005 a0004c0015 a0006c0010 a0008c0012	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0014t0001 a0002c0002t0001 a0002c0005t0001 a0004c0015t0001 a0006c0010t0001 a0008c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0026 others(61): Show a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0059 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0258 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0005g0200 a0001c0001t0006g0075 a0001c0014t0001g0042 a0002c0002t0001g0008 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0005t0001g0283 a0002c0005t0001g0287 a0004c0015t0001g0063 a0006c0010t0001g0278 a0008c0012t0001g0197	84	422	0.1991	-36	c.863 others(53): Show c.863-1087_863-1052delCACATAGGCTGTGTGTGTGCACATAGGC TGTGTGTG	L3MBTL1	ENSG00000185513.18	transcript	ENST00000418998.7	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr20	TogoVar
L3MBTL4_chr18_5949717_6419911	5958056	GAGAAGGA others(29): Show GAGAAGGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0060 a0001c0001t0004g0060	1	94	0.0106	-36	c.167 others(55): Show c.1678-1705_1678-1670delTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTCCTTCT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	18/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	5958124	GAAGAAAA others(29): Show GAAGAAAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02257.hp2 HG00639.hp1 HG02257.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0028 a0002c0002t0001g0001 a0001c0001t0002g0028 a0002c0002t0001g0001	2	94	0.0213	-36	c.167 others(55): Show c.1678-1773_1678-1738delGTTCTTCTTCTTCTTCTTCTTCTTCT TCTTTTTCTT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	18/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6071728	GGAAAGAA others(29): Show GGAAAGAAAGAAGGAAGGAAAGAAAGAAAGAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02080.hp1 HG02080.hp2 others(4): Show HG00673.hp2 HG02080.hp1 HG02080.hp2 HG03017.hp1 HG04184.hp2 NA19002.hp2 NA19009.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0009 a0001c0001 a0002c0002 a0004c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0004c0009t0002	a0001c0001t0002g0027 a0001c0001t0002g0045 a0001c0001t0002g0062 others(4): Show a0001c0001t0002g0027 a0001c0001t0002g0045 a0001c0001t0002g0062 a0001c0001t0003g0023 a0001c0001t0004g0059 a0002c0002t0001g0038 a0004c0009t0002g0012	7	94	0.0745	-36	c.144 others(55): Show c.1444+9117_1444+9152delTTTTTTTCTTTCTTTCTTTCCTTCCT TCTTTCTTTC	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	16/18			chr18	TogoVar
LAMA2_chr6_128878138_129521566	128961318	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02451.hp1 HG02559.hp1 others(6): Show HG00140.hp1 HG02451.hp1 HG02559.hp1 HG02698.hp1 HG02965.hp1 HG02965.hp2 HG04204.hp1 HG06807.hp2 NA20129.hp2	a0001 a0003 a0005 others(4): Show a0001 a0003 a0005 a0014 a0021 a0029 a0033	a0001c0011 a0003c0027 a0003c0031 others(5): Show a0001c0011 a0003c0027 a0003c0031 a0005c0042 a0014c0008 a0021c0023 a0029c0045 a0033c0058	a0001c0011t0002 a0003c0027t0001 a0003c0031t0002 others(5): Show a0001c0011t0002 a0003c0027t0001 a0003c0031t0002 a0005c0042t0002 a0014c0008t0002 a0021c0023t0002 a0029c0045t0002 a0033c0058t0009	a0001c0011t0002g0003 a0003c0027t0001g0002 a0003c0031t0002g0005 others(6): Show a0001c0011t0002g0003 a0003c0027t0001g0002 a0003c0031t0002g0005 a0005c0042t0002g0007 a0014c0008t0002g0084 a0014c0008t0002g0085 a0021c0023t0002g0086 a0029c0045t0002g0006 a0033c0058t0009g0004	9	88	0.1023	-36	c.112 others(55): Show c.112+77976_112+78011delATATATATATATATATATATATATAT ATATATATAT	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	1/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA3_chr18_23684453_23960066	23889689	GAAGGAAG others(29): Show GAAGGAAGGGAGGGAGGAAGGGAGGAAGGAAGGAAGA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02723.hp2 HG02615.hp2 HG02723.hp2	a0007 a0007	a0007c0020 a0007c0020	a0007c0020t0001 a0007c0020t0001	a0007c0020t0001g0003 a0007c0020t0001g0007 a0007c0020t0001g0003 a0007c0020t0001g0007	2	280	0.0071	-36	c.530 others(53): Show c.5304-313_5304-278delGAGGGAGGAAGGGAGGAAGGAAGGAAGA AAGGAAGG	LAMA3	ENSG00000053747.17	transcript	ENST00000313654.14	protein_coding	41/74		INFO_REALIGN_3_PRIME	chr18	TogoVar
LAMA3_chr18_23868020_23960066	23889689	GAAGGAAG others(29): Show GAAGGAAGGGAGGGAGGAAGGGAGGAAGGAAGGAAGA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02723.hp2 HG02615.hp2 HG02723.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0206 a0005c0010t0001g0207 a0005c0010t0001g0206 a0005c0010t0001g0207	2	334	0.0060	-36	c.477 others(51): Show c.477-313_477-278delGAGGGAGGAAGGGAGGAAGGAAGGAAGAAA GGAAGG	LAMA3	ENSG00000053747.17	transcript	ENST00000269217.11	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr18	TogoVar
LAMB4_chr7_108018553_108135361	108043545	GTTTTTTT others(29): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01981.hp1 NA20300.hp1 HG01255.hp1 HG01981.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0065 a0001c0002t0001g0067 a0001c0002t0001g0068	3	292	0.0103	-36	c.447 others(53): Show c.4471+171_4471+206delAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	LAMB4	ENSG00000091128.13	transcript	ENST00000388781.8	protein_coding	29/33			chr7	TogoVar
LARP1_chr5_154750377_154822605	154795986	TTATATAT others(29): Show TTATATATTTTTATATATATTATATATTTATATATTA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01081.hp1 HG01123.hp2 others(33): Show HG00597.hp2 HG01081.hp1 HG01123.hp2 HG01255.hp1 HG01346.hp2 HG01516.hp1 HG01975.hp2 HG01993.hp2 HG02015.hp1 HG02080.hp1 HG02148.hp2 HG02257.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp2 HG02735.hp2 HG02809.hp1 HG03130.hp1 HG03831.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18945.hp2 NA18946.hp1 NA18951.hp1 NA18971.hp1 NA18998.hp1 NA19066.hp2 NA19075.hp1 NA19085.hp1 NA19090.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0002c0004 a0001c0001 a0001c0010 a0002c0004	a0001c0001t0003 a0001c0001t0013 a0001c0001t0014 others(6): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0029 a0001c0010t0013 a0002c0004t0003 a0002c0004t0014 a0002c0004t0016	a0001c0001t0003g0003 a0001c0001t0003g0010 a0001c0001t0003g0011 others(31): Show a0001c0001t0003g0003 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0265 a0001c0001t0003g0267 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0013g0264 a0001c0001t0013g0277 a0001c0001t0014g0263 a0001c0001t0014g0266 a0001c0001t0016g0269 a0001c0001t0029g0276 a0001c0010t0013g0268 a0002c0004t0003g0009 a0002c0004t0003g0010 a0002c0004t0003g0270 a0002c0004t0014g0009 a0002c0004t0016g0003	36	304	0.1184	-36	c.137 others(53): Show c.1377+709_1377+744delATTTTTATATATATTATATATTTATATA TTATATAT	LARP1	ENSG00000155506.19	transcript	ENST00000518297.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
LAT2_chr7_74205006_74234834	74214525	AATATATA others(29): Show AATATATATATGAATATATATATATATATATGAAAAT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	344	0.0029	-36	c.-21 others(53): Show c.-218-283_-218-248delTATATATATATATATATGAAAATATATA TATATGAA	LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
LATS2_chr13_20968036_21066586	20969697	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0015 a0001c0010t0015	a0001c0010t0015g0003 a0001c0010t0015g0003	1	316	0.0032	-36	c.51 others(47): Show c.5137_*5172delATATATATATATATATATATATATATATATATAT AT	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding		3338		chr13	TogoVar
LCOR_chr10_96827298_97000956	96941056	TGGCCGAC others(29): Show TGGCCGACCCCCCCCCCGCCTCCCTCCCGGACGGGGC	T T	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18998.hp2 NA18944.hp1 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0039 a0002c0002t0019 a0002c0002t0039	a0002c0002t0019g0110 a0002c0002t0039g0084 a0002c0002t0019g0110 a0002c0002t0039g0084	2	288	0.0069	-36	c.-18 others(55): Show c.-183-3053_-183-3018delCGACCCCCCCCCCGCCTCCCTCCCGG ACGGGGCGGC	LCOR	ENSG00000196233.14	transcript	ENST00000421806.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
LCP1_chr13_46120923_46187177	46144879	AATTGAGA others(29): Show AATTGAGACAGGGAAAAGAACAGTATGGACTGAACTT	A A	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0374 a0001c0001t0028g0374	1	382	0.0026	-36	c.117 others(53): Show c.1175-395_1175-360delAAGTTCAGTCCATACTGTTCTTTTCCCT GTCTCAAT	LCP1	ENSG00000136167.15	transcript	ENST00000323076.7	protein_coding	10/15			chr13	TogoVar
LCP2_chr5_170241233_170302777	170290966	AAGAAAGA others(29): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02055.hp1 HG02280.hp1 others(7): Show HG00639.hp2 HG02055.hp1 HG02280.hp1 HG02486.hp2 HG02922.hp2 HG03098.hp1 HG03130.hp2 HG03471.hp1 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0003t0002 a0001c0003t0008 a0001c0004t0024	a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 others(7): Show a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0007g0252 a0001c0002t0001g0251 a0001c0003t0002g0254 a0001c0003t0008g0255 a0001c0003t0008g0256 a0001c0004t0024g0331	10	384	0.0260	-36	c.141 others(53): Show c.141+2308_141+2343delCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT	LCP2	ENSG00000043462.13	transcript	ENST00000046794.10	protein_coding	2/20			chr5	TogoVar
LCTL_chr15_66542532_66570998	66568863	CACACACA others(29): Show CACACACACACACATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01069.hp2 HG00733.hp2 HG01069.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0026 a0004c0007t0001g0026	2	434	0.0046	-36	c.-30 others(47): Show c.-3065_-3030delATATATATATATATATATATATATGTGTGTGTGT GT	LCTL	ENSG00000188501.12	transcript	ENST00000695545.1	protein_coding		2866		chr15	TogoVar
LCTL_chr15_66542532_66570998	66568867	CACACACA others(29): Show CACACACACATATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 NA18949.hp1 NA19007.hp1 others(3): Show HG00673.hp2 NA18949.hp1 NA19007.hp1 NA19079.hp2 NA19090.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0014 a0002c0002t0001 a0001c0001t0001 a0001c0001t0014 a0002c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0190 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0190 a0001c0001t0014g0225 a0002c0002t0001g0206	6	434	0.0138	-36	c.-30 others(47): Show c.-3069_-3034delATATATATATATATATATATATATATATGTGTGT GT	LCTL	ENSG00000188501.12	transcript	ENST00000695545.1	protein_coding		2870		chr15	TogoVar
LCTL_chr15_66542532_66570998	66568869	CACACACA others(29): Show CACACACATATATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG04184.hp2 HG03491.hp1 HG03492.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0193 a0001c0001t0001g0016 a0001c0001t0001g0193	3	434	0.0069	-36	c.-30 others(47): Show c.-3071_-3036delATATATATATATATATATATATATATATATGTGT GT	LCTL	ENSG00000188501.12	transcript	ENST00000695545.1	protein_coding		2872		chr15	TogoVar
LCTL_chr15_66542532_66570998	66568871	CACACATA others(29): Show CACACATATATATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	434	0.0023	-36	c.-30 others(47): Show c.-3073_-3038delATATATATATATATATATATATATATATATATGT GT	LCTL	ENSG00000188501.12	transcript	ENST00000695545.1	protein_coding		2874		chr15	TogoVar
LDB2_chr4_16496541_16903645	16739618	ACATGTGT others(29): Show ACATGTGTGTGTATATATGTATATATACATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	162	0.0062	-36	c.235 others(55): Show c.235+19504_235+19539delCACACATATGTATATATACATATATA CACACACATG	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	2/7			chr4	TogoVar
LDB2_chr4_16496541_16903645	16739704	GTGTATAT others(29): Show GTGTATATATGTATATATACATATATGTGTATATACA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG01496.hp1 others(16): Show HG00423.hp1 HG00438.hp1 HG01496.hp1 HG01934.hp1 HG02015.hp1 HG02258.hp1 HG02258.hp2 HG02698.hp2 HG02976.hp1 HG03017.hp1 HG03516.hp1 HG04184.hp1 NA18970.hp1 NA18984.hp1 NA19003.hp2 NA19064.hp1 NA19065.hp2 NA19070.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0036 others(16): Show a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0085 a0001c0001t0001g0104 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0132 a0001c0001t0002g0020 a0001c0001t0002g0064 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0107 a0001c0001t0003g0026 a0001c0001t0003g0091 a0001c0001t0003g0133 a0001c0002t0001g0007 a0001c0002t0001g0052 a0001c0003t0001g0097	19	162	0.1173	-36	c.235 others(55): Show c.235+19418_235+19453delTGTATATACACATATATGTATATATA CATATATACA	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	2/7			chr4	TogoVar
LDB2_chr4_16496541_16903645	16755516	TGTGTGTG others(29): Show TGTGTGTGTATGTGAGAGAGAGAGAGACAGACAGACA	T T	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	162	0.0062	-36	c.235 others(53): Show c.235+3606_235+3641delTGTCTGTCTGTCTCTCTCTCTCTCACAT ACACACAC	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	2/7			chr4	TogoVar
LDB2_chr4_16496541_16903645	16897910	ATATATAT others(29): Show ATATATATATATATATATATATATATATACACATATG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18993.hp1 NA19064.hp1 others(1): Show HG02615.hp2 NA18993.hp1 NA19064.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 others(1): Show a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0002g0077	4	162	0.0247	-36	c.132 others(51): Show c.132+408_132+443delCATATGTGTATATATATATATATATATATA TATATA	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	1/7			chr4	TogoVar
LEKR1_chr3_156821353_157051129	157049640	TTATATTC others(29): Show TTATATTCATTAGTTAAAAAAAATTTACTAAACATCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	244	0.0041	-36	c.38 others(47): Show c.3891_*3926delTATATTCATTAGTTAAAAAAAATTTACTAAACAT CC	LEKR1	ENSG00000197980.14	transcript	ENST00000356539.9	protein_coding		3512		chr3	TogoVar
LFNG_chr7_2514774_2533429	2515019	TATCCATC others(29): Show TATCCATCCATCCATCCATCCATCCATCTGTCCATCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0052 a0001c0001t0015g0052	1	414	0.0024	-36	c.-48 others(47): Show c.-4842_-4807delATCCATCCATCCATCCATCCATCCATCTGTCCAT CC	LFNG	ENSG00000106003.14	transcript	ENST00000222725.10	protein_coding		4754		chr7	TogoVar
LFNG_chr7_2514774_2533429	2517950	ATAGGAGT others(29): Show ATAGGAGTGGGTGGGATGGGGGTGGAGGCTGCCCAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	414	0.0024	-36	c.-19 others(47): Show c.-1911_-1876delTAGGAGTGGGTGGGATGGGGGTGGAGGCTGCCCA AG	LFNG	ENSG00000106003.14	transcript	ENST00000222725.10	protein_coding		1823		chr7	TogoVar
LGMN_chr14_92698809_92753627	92719183	TCACCACC others(29): Show TCACCACCACCGCCACCAACACCACCACCGCCACCAA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18906.hp2 HG02486.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0187 a0001c0001t0002g0188	2	420	0.0048	-36	c.139 others(51): Show c.139-375_139-340delTTGGTGGCGGTGGTGGTGTTGGTGGCGGTG GTGGTG	LGMN	ENSG00000100600.15	transcript	ENST00000334869.9	protein_coding	2/13			chr14	TogoVar
LGMN_chr14_92698809_92753627	92719263	ACCGCCGC others(29): Show ACCGCCGCCGCCGCCACCGCCGCCGCCGCCGCCGCCG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0120 a0002c0005t0001g0120	1	420	0.0024	-36	c.139 others(51): Show c.139-455_139-420delCGGCGGCGGCGGCGGCGGCGGTGGCGGCGG CGGCGG	LGMN	ENSG00000100600.15	transcript	ENST00000334869.9	protein_coding	2/13			chr14	TogoVar
LHFPL6_chr13_39337892_39608193	39352936	TGTGTGTA others(29): Show TGTGTGTATATATATATACATACATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02109.hp2 HG02129.hp2 others(7): Show HG01975.hp2 HG02109.hp2 HG02129.hp2 HG02818.hp2 HG02965.hp2 NA18973.hp2 NA18975.hp2 NA18990.hp2 NA19063.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 others(3): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0001t0019 a0001c0001t0022 a0001c0005t0005	a0001c0001t0005g0036 a0001c0001t0005g0044 a0001c0001t0005g0063 others(7): Show a0001c0001t0005g0036 a0001c0001t0005g0044 a0001c0001t0005g0063 a0001c0001t0005g0082 a0001c0001t0005g0169 a0001c0001t0010g0031 a0001c0001t0012g0158 a0001c0001t0019g0002 a0001c0001t0022g0210 a0001c0005t0005g0052	10	242	0.0413	-36	c.485 others(53): Show c.485-8918_485-8883delGTGTGTGTGTGTATGTATGTATATATAT ATACACAC	LHFPL6	ENSG00000183722.9	transcript	ENST00000379589.4	protein_coding	3/3			chr13	TogoVar
LIFR_chr5_38469668_38561646	38553622	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG01175.hp2 others(44): Show HG00408.hp1 HG00639.hp2 HG01175.hp2 HG01358.hp1 HG01943.hp2 HG02015.hp2 HG02027.hp2 HG02071.hp1 HG02074.hp2 HG02132.hp2 HG02523.hp2 HG02559.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp1 NA18944.hp2 NA18949.hp1 NA18957.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18978.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18987.hp2 NA18988.hp2 NA18993.hp1 NA18994.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19005.hp2 NA19006.hp1 NA19010.hp1 NA19060.hp1 NA19066.hp1 NA19077.hp1 NA19079.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19089.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0035 a0002c0002t0003 a0002c0002t0025 others(4): Show a0001c0001t0035 a0002c0002t0003 a0002c0002t0025 a0002c0002t0026 a0002c0002t0027 a0002c0002t0052 a0003c0003t0004	a0001c0001t0035g0159 a0002c0002t0003g0001 a0002c0002t0003g0002 others(38): Show a0001c0001t0035g0159 a0002c0002t0003g0001 a0002c0002t0003g0002 a0002c0002t0003g0004 a0002c0002t0003g0133 a0002c0002t0003g0134 a0002c0002t0003g0135 a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0139 a0002c0002t0003g0140 a0002c0002t0003g0141 a0002c0002t0003g0142 a0002c0002t0003g0143 a0002c0002t0003g0144 a0002c0002t0003g0145 a0002c0002t0003g0146 a0002c0002t0003g0147 a0002c0002t0003g0148 a0002c0002t0003g0149 a0002c0002t0003g0151 a0002c0002t0003g0152 a0002c0002t0003g0153 a0002c0002t0003g0154 a0002c0002t0003g0155 a0002c0002t0003g0156 a0002c0002t0003g0157 a0002c0002t0003g0158 a0002c0002t0003g0160 a0002c0002t0003g0161 a0002c0002t0003g0162 a0002c0002t0003g0163 a0002c0002t0003g0164 a0002c0002t0003g0165 a0002c0002t0025g0166 a0002c0002t0026g0150 a0002c0002t0027g0136 a0002c0002t0052g0350 a0003c0003t0004g0077 a0003c0003t0004g0078 a0003c0003t0004g0079	47	374	0.1257	-36	c.-20 others(53): Show c.-20+2676_-20+2711delTATATATATATATATATATATATATATA TATATATA	LIFR	ENSG00000113594.10	transcript	ENST00000453190.7	protein_coding	1/19			chr5	TogoVar
LILRA5_chr19_54302070_54318166	54308335	GTATATAT others(29): Show GTATATATATGTATATATAAATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp2 NA19030.hp2 HG02145.hp1 HG02451.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0001 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0135 a0001c0001t0004g0134 a0001c0001t0006g0109 a0001c0001t0001g0135 a0001c0001t0004g0134 a0001c0001t0006g0109	3	409	0.0073	-36	c.713 others(51): Show c.713-623_713-588delTATATATATATATATATTTATATATACATA TATATA	LILRA5	ENSG00000187116.14	transcript	ENST00000432233.8	protein_coding	5/6			chr19	TogoVar
LILRA5_chr19_54302070_54318166	54308345	GTATATAT others(29): Show GTATATATAAATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	409	0.0024	-36	c.713 others(51): Show c.713-633_713-598delTATATATATATATATATATATATATATTTA TATATA	LILRA5	ENSG00000187116.14	transcript	ENST00000432233.8	protein_coding	5/6			chr19	TogoVar
LILRB1_chr19_54625484_54643022	54625674	TCTCACTC others(29): Show TCTCACTCACCCCTTCCCCGTGTTAGGGAGCCTCGCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	435	0.0023	-36	c.-50 others(47): Show c.-5007_-4972delCTCACTCACCCCTTCCCCGTGTTAGGGAGCCTCG CA	LILRB1	ENSG00000104972.16	transcript	ENST00000324602.12	protein_coding		4809		chr19	TogoVar
LILRB1_chr19_54625484_54643022	54625883	CCTCTCAC others(29): Show CCTCTCACTCACTCACCCCTTCCCCGTGTTAGAGAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 NA18951.hp1 HG01243.hp1 NA18951.hp1	a0001 a0004 a0001 a0004	a0001c0004 a0004c0007 a0001c0004 a0004c0007	a0001c0004t0004 a0004c0007t0001 a0001c0004t0004 a0004c0007t0001	a0001c0004t0004g0002 a0004c0007t0001g0003 a0001c0004t0004g0002 a0004c0007t0001g0003	2	435	0.0046	-36	c.-47 others(47): Show c.-4798_-4763delCTCTCACTCACTCACCCCTTCCCCGTGTTAGAGA AT	LILRB1	ENSG00000104972.16	transcript	ENST00000324602.12	protein_coding		4600		chr19	TogoVar
LIMS1_chr2_108529470_108692246	108552266	ATAGTATA others(29): Show ATAGTATATATATGAAACTATATATATACTATACGTG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02602.hp2 HG02965.hp1 others(13): Show HG01192.hp1 HG02602.hp2 HG02965.hp1 HG03017.hp2 HG03209.hp1 HG03239.hp2 HG03491.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG03834.hp1 HG04184.hp1 NA18962.hp2 NA18994.hp2 NA19056.hp1 NA19081.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0006 a0001c0001 a0001c0002 a0004c0006	a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 a0004c0006t0004	a0001c0001t0002g0121 a0001c0001t0002g0125 a0001c0002t0001g0017 others(13): Show a0001c0001t0002g0121 a0001c0001t0002g0125 a0001c0002t0001g0017 a0001c0002t0004g0225 a0001c0002t0004g0227 a0001c0002t0004g0228 a0001c0002t0004g0231 a0001c0002t0004g0232 a0001c0002t0004g0233 a0001c0002t0004g0235 a0001c0002t0004g0240 a0001c0002t0004g0241 a0001c0002t0004g0242 a0001c0002t0004g0244 a0001c0002t0004g0245 a0004c0006t0004g0243	16	246	0.0650	-36	c.32+ others(53): Show c.32+17732_32+17767delTATACTATACGTGTAGTATATATATGAA ACTATATA	LIMS1	ENSG00000169756.17	transcript	ENST00000544547.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
LIN7C_chr11_27489418_27511769	27500626	AAAGAAAT others(29): Show AAAGAAATCAAGATTTACTGAACACCCGTTATCTTTG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp1 HG03540.hp1 HG02572.hp1 HG02723.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0019	3	406	0.0074	-36	c.228 others(51): Show c.228+833_228+868delCAAAGATAACGGGTGTTCAGTAAATCTTGA TTTCTT	LIN7C	ENSG00000148943.12	transcript	ENST00000278193.7	protein_coding	3/4			chr11	TogoVar
LINGO2_chr9_27932617_29218601	27985582	CAAAACAC others(29): Show CAAAACACAAGAAAAAGTGTAGTACAAGATAAGGCAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02109.hp1 HG02451.hp1 others(7): Show HG00639.hp2 HG02109.hp1 HG02451.hp1 HG02630.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp1 HG03209.hp1 HG03486.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 others(5): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0001c0001t0019 a0001c0001t0025 a0001c0001t0034 a0001c0001t0035	a0001c0001t0004g0033 a0001c0001t0004g0039 a0001c0001t0006g0003 others(7): Show a0001c0001t0004g0033 a0001c0001t0004g0039 a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0010g0001 a0001c0001t0014g0008 a0001c0001t0019g0053 a0001c0001t0025g0055 a0001c0001t0034g0061 a0001c0001t0035g0060	10	62	0.1613	-36	c.-35 others(55): Show c.-35-34912_-35-34877delATGCCTTATCTTGTACTACACTTTTT CTTGTGTTTT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar

Search by Variant

Search

Search Results (Total: 3870 hits)