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 (≤).

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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
KRTAP1-3_chr17_41028884_41039874	41035786	CCTTCCTT others(25): Show CCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0000 a0004c0004t0002g0000	1	435	0.0023	-32	c.-99 others(41): Show c.-997_-966delAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAG	KRTAP1-3	ENSG00000221880.4	transcript	ENST00000344363.7	protein_coding		913		chr17	TogoVar
KRTAP10-7_chr21_44595597_44607174	44599256	TACAGAAA others(25): Show TACAGAAAGACAATTCATCCCACCGTGTAACTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	446	0.0022	-32	c.-13 others(43): Show c.-1365_-1334delACAGAAAGACAATTCATCCCACCGTGTAACTG	KRTAP10-7	ENSG00000272804.3	transcript	ENST00000609664.2	protein_coding		1340		chr21	TogoVar
KRTAP12-3_chr21_44652932_44663341	44662522	AAATCAGA others(25): Show AAATCAGATTTGTCATTGGACTTCAGCTTCAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	424	0.0024	-32	c.42 others(43): Show c.4253_*4284delAATCAGATTTGTCATTGGACTTCAGCTTCAAG	KRTAP12-3	ENSG00000205439.10	transcript	ENST00000397907.1	protein_coding		4182		chr21	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310330	GAAGAAAG others(25): Show GAAGAAAGAAAAGAAGAAAGAAAGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01109.hp1 HG01255.hp2 others(20): Show HG01074.hp2 HG01109.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG02055.hp2 HG02683.hp1 HG03239.hp1 HG03654.hp2 NA18960.hp1 NA18967.hp2 NA18979.hp2 NA18991.hp2 NA18993.hp1 NA18997.hp2 NA19064.hp2 NA19080.hp2 NA19086.hp2 NA20300.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0001 a0002c0005t0001 a0002c0002t0001 a0002c0005t0001	a0002c0002t0001g0000 a0002c0005t0001g0000 a0002c0002t0001g0000 a0002c0005t0001g0000	23	421	0.0546	-32	c.-11 others(43): Show c.-1109_-1078delTCTTTCTTTCTTTCTTTCTTCTTTTCTTTCTT	KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding		1022		chr17	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310330	GAAGAAAG others(25): Show GAAGAAAGAAAAGAAGAAAGAAAGAAAGAAAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01109.hp1 HG01255.hp1 others(19): Show HG01074.hp2 HG01109.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG02055.hp1 HG02683.hp1 HG03239.hp2 HG03654.hp1 NA18960.hp2 NA18967.hp2 NA18979.hp2 NA18993.hp2 NA19064.hp1 NA19072.hp2 NA19080.hp2 NA19086.hp2 NA20300.hp2 NA21309.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0002 a0002c0002t0005 a0003c0004t0001 a0002c0002t0002 a0002c0002t0005 a0003c0004t0001	a0002c0002t0002g0000 a0002c0002t0005g0000 a0003c0004t0001g0000 a0002c0002t0002g0000 a0002c0002t0005g0000 a0003c0004t0001g0000	22	413	0.0533	-32	c.49 others(43): Show c.4971_*5002delTCTTTCTTTCTTTCTTTCTTCTTTTCTTTCTT	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding		4581		chr17	TogoVar
KRTAP19-7_chr21_30555875_30566314	30562379	ATATATAT others(25): Show ATATATATATATGTATATATATATATATACATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp1 others(92): Show HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01261.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02293.hp1 HG02572.hp2 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG03017.hp1 HG03453.hp2 HG03490.hp2 HG03492.hp2 HG03704.hp1 HG03704.hp2 HG04115.hp2 NA18612.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18943.hp1 NA18947.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18963.hp1 NA18964.hp1 NA18967.hp1 NA18974.hp2 NA18976.hp1 NA18977.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18987.hp1 NA18989.hp2 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19054.hp2 NA19062.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19084.hp1 NA19090.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	95	422	0.2251	-32	c.-11 others(43): Show c.-1122_-1091delCATGTATATATATATATATACATATATATATA	KRTAP19-7	ENSG00000244362.3	transcript	ENST00000334849.2	protein_coding		1066		chr21	TogoVar
KRTAP4-1_chr17_41179100_41189911	41188773	GTCCCAGC others(25): Show GTCCCAGCTACACGGGAGGCTGAGGCAGGAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	426	0.0024	-32	c.-39 others(43): Show c.-3951_-3920delTTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGA	KRTAP4-1	ENSG00000198443.8	transcript	ENST00000398472.2	protein_coding		3863		chr17	TogoVar
KRTAP4-7_chr17_41079150_41090144	41088196	CCTTCCTT others(25): Show CCTTCCTTTACAAGGAAGGCAAGATTTATTTTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	442	0.0023	-32	c.35 others(43): Show c.3523_*3554delCTTCCTTTACAAGGAAGGCAAGATTTATTTTA	KRTAP4-7	ENSG00000240871.7	transcript	ENST00000391417.6	protein_coding		3053		chr17	TogoVar
KRTAP5-10_chr11_71560563_71571735	71568568	GCATGGTG others(25): Show GCATGGTGACACCCACTTGTAGTCTTGTTTACT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0000 a0002c0002t0005g0000	1	468	0.0021	-32	c.23 others(43): Show c.2373_*2404delCATGGTGACACCCACTTGTAGTCTTGTTTACT	KRTAP5-10	ENSG00000204572.10	transcript	ENST00000398531.3	protein_coding		1834		chr11	TogoVar
KRTAP9-3_chr17_41227449_41238454	41235836	AAAGGAAG others(25): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0010 a0003c0005t0010	a0003c0005t0010g0000 a0003c0005t0010g0000	1	439	0.0023	-32	c.28 others(43): Show c.2856_*2887delAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	KRTAP9-3	ENSG00000204873.5	transcript	ENST00000411528.4	protein_coding		2383		chr17	TogoVar
KRTAP9-8_chr17_41232999_41244004	41235836	AAAGGAAG others(25): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	435	0.0023	-32	c.-22 others(43): Show c.-2215_-2184delAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	KRTAP9-8	ENSG00000187272.7	transcript	ENST00000254072.7	protein_coding		2162		chr17	TogoVar
KSR1_chr17_27451448_27631435	27629599	CAACTCAC others(25): Show CAACTCACCAAGCAGTTTTTCTTTTTATTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0017 a0002c0004t0005g0017	1	246	0.0041	-32	c.62 others(43): Show c.6208_*6239delAACTCACCAAGCAGTTTTTCTTTTTATTTTTT	KSR1	ENSG00000141068.17	transcript	ENST00000644974.2	protein_coding		3165		chr17	TogoVar
KSR2_chr12_117448012_117973990	117692449	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02965.hp1 NA18975.hp2 HG02055.hp1 HG02965.hp1 NA18975.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0004 a0001c0004t0005 a0001c0004t0082 a0001c0003t0004 a0001c0004t0005 a0001c0004t0082	a0001c0003t0004g0146 a0001c0004t0005g0173 a0001c0004t0082g0078 a0001c0003t0004g0146 a0001c0004t0005g0173 a0001c0004t0082g0078	3	196	0.0153	-32	c.987 others(51): Show c.987-24823_987-24792delATATATATATATATATATATATATAT ATATAT	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	4/19			chr12	TogoVar
KSR2_chr12_117448012_117973990	117794000	ACACACAC others(25): Show ACACACACCAACATGCACACTCACACCAACATG	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0183 a0001c0002t0009g0191 a0001c0002t0009g0183 a0001c0002t0009g0191	2	196	0.0102	-32	c.473 others(51): Show c.473-32508_473-32477delCATGTTGGTGTGAGTGTGCATGTTGG TGTGTG	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	3/19			chr12	TogoVar
KSR2_chr12_117448012_117973990	117794039	CCAACATG others(25): Show CCAACATGCACACTCGTACCAACATGCACACAT	C C	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0054 a0001c0005t0054	a0001c0005t0054g0036 a0001c0005t0054g0036	1	196	0.0051	-32	c.473 others(51): Show c.473-32547_473-32516delATGTGTGCATGTTGGTACGAGTGTGC ATGTTG	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	3/19			chr12	TogoVar
KYAT1_chr9_128827942_128886950	128865308	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(108): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01192.hp1 HG01192.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02273.hp2 HG02300.hp2 HG02523.hp2 HG02683.hp2 HG02735.hp2 HG02738.hp2 HG03017.hp1 HG03195.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18747.hp2 NA18940.hp2 NA18943.hp2 NA18946.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp2 NA18967.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19066.hp1 NA19068.hp1 NA19072.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0002c0002 a0005c0004 others(1): Show a0001c0001 a0002c0002 a0005c0004 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0001 a0005c0004t0001 a0006c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0037 others(104): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0002g0088 a0001c0001t0002g0133 a0001c0001t0002g0137 a0001c0001t0002g0233 a0001c0001t0005g0087 a0002c0002t0001g0029 a0002c0002t0001g0030 a0005c0004t0001g0052 a0006c0007t0001g0106	111	326	0.3405	-32	c.-7+ others(49): Show c.-7+16557_-7+16588delATATATATATATATATATATATATATAT ATAT	KYAT1	ENSG00000171097.14	transcript	ENST00000302586.8	protein_coding	1/12			chr9	TogoVar
KYNU_chr2_142872664_143060833	143042583	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp1 HG02717.hp2 HG02735.hp2 others(1): Show HG02280.hp1 HG02717.hp2 HG02735.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0135 a0001c0001t0192 a0001c0001t0193 others(1): Show a0001c0001t0135 a0001c0001t0192 a0001c0001t0193 a0001c0001t0194	a0001c0001t0135g0148 a0001c0001t0192g0138 a0001c0001t0193g0139 others(1): Show a0001c0001t0135g0148 a0001c0001t0192g0138 a0001c0001t0193g0139 a0001c0001t0194g0006	4	332	0.0121	-32	c.42 others(41): Show c.428_*459delATATATATATATATATATATATATATATATAT	KYNU	ENSG00000115919.15	transcript	ENST00000264170.9	protein_coding	14/14	428	INFO_REALIGN_3_PRIME	chr2	TogoVar
L3MBTL4_chr18_5949717_6419911	6071729	GAAAGAAA others(25): Show GAAAGAAAGAAGGAAGGAAAGAAAGAAAGAAAA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01192.hp1 HG02486.hp1 others(3): Show HG01081.hp2 HG01192.hp1 HG02486.hp1 HG02809.hp2 HG03834.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0002c0002t0001	a0001c0001t0003g0011 a0001c0001t0003g0030 a0001c0001t0003g0031 others(3): Show a0001c0001t0003g0011 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0005g0094 a0001c0001t0008g0005 a0002c0002t0001g0091	6	94	0.0638	-32	c.144 others(51): Show c.1444+9120_1444+9151delTTTTCTTTCTTTCTTTCCTTCCTTCT TTCTTT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	16/18			chr18	TogoVar
LACTB2_chr8_70632266_70674185	70670244	TGCCTGCC others(25): Show TGCCTGCCCAGAGAGCTAGGCTGGTCTTGTGGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0085 a0001c0002t0003g0085	1	352	0.0028	-32	c.-11 others(43): Show c.-1156_-1125delTCCACAAGACCAGCCTAGCTCTCTGGGCAGGC	LACTB2	ENSG00000147592.9	transcript	ENST00000276590.5	protein_coding		1060		chr8	TogoVar
LAMA2_chr6_128878138_129521566	128879505	ATATATAT others(25): Show ATATATATATGCCATTATATATATATATGCCAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0028 a0028	a0028c0053 a0028c0053	a0028c0053t0003 a0028c0053t0003	a0028c0053t0003g0079 a0028c0053t0003g0079	1	88	0.0114	-32	c.-37 others(43): Show c.-3740_-3709delTATATATATGCCATTATATATATATATGCCAT	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding		3632		chr6	TogoVar
LAMA4_chr6_112102931_112259567	112241140	TATATATA others(25): Show TATATATATGAATATATATATGAATATATATGA	T T	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0012 a0004c0010t0012	a0004c0010t0012g0177 a0004c0010t0012g0177	1	314	0.0032	-32	c.195 others(51): Show c.195+12784_195+12815delTCATATATATTCATATATATATTCAT ATATAT	LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	2/38			chr6	TogoVar
LAMA5_chr20_62304065_62372312	62321242	GAGGGGTG others(25): Show GAGGGGTGGGGCCAGTGGAGGCAGGGTCAGTGA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp1 HG02922.hp2 HG02976.hp1	a0021 a0021	a0021c0048 a0021c0077 a0021c0048 a0021c0077	a0021c0048t0001 a0021c0077t0001 a0021c0048t0001 a0021c0077t0001	a0021c0048t0001g0058 a0021c0077t0001g0018 a0021c0048t0001g0058 a0021c0077t0001g0018	2	186	0.0108	-32	c.649 others(49): Show c.6497-384_6497-353delTCACTGACCCTGCCTCCACTGGCCCCAC CCCT	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	48/79			chr20	TogoVar
LAMP5_chr20_9509590_9535524	9532690	ACATCTGA others(25): Show ACATCTGAGAAATGTGAATGGAGAAAGGGGAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	448	0.0022	-32	c.28 others(43): Show c.2871_*2902delCATCTGAGAAATGTGAATGGAGAAAGGGGAGG	LAMP5	ENSG00000125869.10	transcript	ENST00000246070.3	protein_coding		2167		chr20	TogoVar
LAP3_chr4_17572198_17612970	17577191	CGCGGGCG others(25): Show CGCGGGCGCACACGAATGCGGGCGCACACGAAT	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0218 a0001c0001t0011g0218	1	300	0.0033	-32	c.-27 others(41): Show c.-274_-243delGCGGGCGCACACGAATGCGGGCGCACACGAAT	LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding	1/13	243		chr4	TogoVar
LARGE1_chr22_33267509_33925476	33556564	GAGGCAGG others(25): Show GAGGCAGGCAGGCAGGCAGGCAGGAAGGCAGGC	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp1 HG00741.hp1 others(16): Show HG00621.hp1 HG00735.hp1 HG00741.hp1 HG01071.hp1 HG01099.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01517.hp1 HG02055.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02683.hp1 HG02683.hp2 HG03098.hp1 HG03491.hp1 HG03579.hp1 HG03654.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0008 others(3): Show a0001c0001 a0001c0002 a0001c0008 a0001c0013 a0001c0016 a0003c0020	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0026 a0001c0001t0031 a0001c0002t0001 a0001c0002t0002 a0001c0002t0021 a0001c0008t0012 a0001c0013t0001 a0001c0016t0020 a0003c0020t0010	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0072 others(16): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0072 a0001c0001t0003g0032 a0001c0001t0003g0051 a0001c0001t0005g0024 a0001c0001t0006g0081 a0001c0001t0026g0091 a0001c0001t0031g0109 a0001c0002t0001g0021 a0001c0002t0001g0033 a0001c0002t0001g0041 a0001c0002t0001g0055 a0001c0002t0002g0097 a0001c0002t0021g0099 a0001c0008t0012g0094 a0001c0013t0001g0036 a0001c0016t0020g0002 a0003c0020t0010g0008	19	110	0.1727	-32	c.787 others(49): Show c.787+8252_787+8283delGCCTGCCTTCCTGCCTGCCTGCCTGCCT GCCT	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	6/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33766913	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01517.hp1 HG01071.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0026 a0001c0002t0001 a0001c0001t0026 a0001c0002t0001	a0001c0001t0026g0091 a0001c0002t0001g0041 a0001c0001t0026g0091 a0001c0002t0001g0041	2	110	0.0182	-32	c.-82 others(49): Show c.-82-5387_-82-5356delATATATATATATATATATATATATATAT ATAT	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	1/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33785123	GCATATAT others(25): Show GCATATATGTGTATACATACATATGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp1 HG00735.hp2 others(44): Show HG00280.hp1 HG00621.hp1 HG00735.hp2 HG01099.hp1 HG01099.hp2 HG01257.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02523.hp1 HG02559.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp2 HG03540.hp1 HG03710.hp1 HG04228.hp2 NA18522.hp1 NA19030.hp2 NA19068.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0012 a0001c0019 a0002c0005 a0002c0010 a0002c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0001t0030 a0001c0002t0001 a0001c0002t0002 a0001c0002t0022 a0001c0003t0003 a0001c0003t0009 a0001c0003t0011 a0001c0004t0004 a0001c0004t0005 a0001c0004t0013 a0001c0006t0004 a0001c0007t0004 a0001c0008t0016 a0001c0009t0003 a0001c0009t0009 a0001c0012t0019 a0001c0019t0003 a0002c0005t0008 a0002c0010t0008 a0002c0018t0008	a0001c0001t0001g0009 a0001c0001t0001g0031 a0001c0001t0001g0044 others(44): Show a0001c0001t0001g0009 a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0002g0100 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0005g0024 a0001c0001t0005g0028 a0001c0001t0006g0052 a0001c0001t0006g0065 a0001c0001t0007g0034 a0001c0001t0007g0048 a0001c0001t0007g0066 a0001c0001t0007g0070 a0001c0001t0010g0073 a0001c0001t0013g0095 a0001c0001t0017g0074 a0001c0001t0030g0106 a0001c0002t0001g0013 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0069 a0001c0002t0002g0089 a0001c0002t0022g0103 a0001c0003t0003g0062 a0001c0003t0009g0001 a0001c0003t0011g0018 a0001c0004t0004g0077 a0001c0004t0005g0026 a0001c0004t0013g0102 a0001c0006t0004g0064 a0001c0007t0004g0061 a0001c0008t0016g0042 a0001c0009t0003g0084 a0001c0009t0009g0049 a0001c0012t0019g0029 a0001c0019t0003g0025 a0002c0005t0008g0071 a0002c0010t0008g0054 a0002c0018t0008g0068	47	110	0.4273	-32	c.-82 others(51): Show c.-82-23597_-82-23566delTATATACACATATGTATGTATACACA TATATG	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	1/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33825359	AAAAGACA others(25): Show AAAAGACATACCCGAGACTGGGTAATTGCTAAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00741.hp2 HG01070.hp2 others(5): Show HG00621.hp2 HG00741.hp2 HG01070.hp2 HG01192.hp2 HG01257.hp2 HG02280.hp1 HG03654.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0013 others(2): Show a0001c0001 a0001c0002 a0001c0013 a0001c0014 a0002c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0031 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0031 a0001c0002t0003 a0001c0013t0001 a0001c0014t0012 a0002c0005t0008	a0001c0001t0002g0085 a0001c0001t0002g0096 a0001c0001t0003g0032 others(5): Show a0001c0001t0002g0085 a0001c0001t0002g0096 a0001c0001t0003g0032 a0001c0001t0031g0109 a0001c0002t0003g0003 a0001c0013t0001g0036 a0001c0014t0012g0086 a0002c0005t0008g0014	8	110	0.0727	-32	c.-82 others(51): Show c.-82-63833_-82-63802delATTAGCAATTACCCAGTCTCGGGTAT GTCTTT	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	1/14			chr22	TogoVar
LARP1_chr5_154750377_154822605	154757780	TCCTTCCC others(25): Show TCCTTCCCCCCTGCTCCCCTTCCCCCCTGCTCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01081.hp1 HG01123.hp2 others(32): Show HG00323.hp1 HG01081.hp1 HG01123.hp2 HG01255.hp1 HG01346.hp2 HG01516.hp1 HG01975.hp2 HG01993.hp2 HG02015.hp1 HG02080.hp1 HG02109.hp2 HG02148.hp2 HG02257.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp2 HG02735.hp2 HG02809.hp1 HG03130.hp1 HG03225.hp1 HG03471.hp1 HG04199.hp1 HG06807.hp2 NA18945.hp2 NA18946.hp1 NA18951.hp1 NA18971.hp1 NA18998.hp1 NA19066.hp2 NA19085.hp1 NA19090.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0016 a0001c0001t0029 a0002c0004t0003 a0002c0004t0014 a0002c0004t0016	a0001c0001t0001g0240 a0001c0001t0002g0020 a0001c0001t0002g0021 others(30): Show a0001c0001t0001g0240 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0003g0003 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0022 a0001c0001t0003g0265 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0289 a0001c0001t0013g0264 a0001c0001t0013g0277 a0001c0001t0016g0269 a0001c0001t0029g0276 a0002c0004t0003g0009 a0002c0004t0003g0010 a0002c0004t0003g0270 a0002c0004t0014g0009 a0002c0004t0016g0003	35	304	0.1151	-32	c.436 others(49): Show c.436+1647_436+1678delGCTCCCCTTCCCCCCTGCTCCCCTTCCC CCCT	LARP1	ENSG00000155506.19	transcript	ENST00000518297.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
LARP4B_chr10_804497_936705	923302	CTGAATGG others(25): Show CTGAATGGTTAAAGCAATGAACTAGAAATCCAT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	288	0.0035	-32	c.-40 others(49): Show c.-40+8094_-40+8125delATGGATTTCTAGTTCATTGCTTTAACCA TTCA	LARP4B	ENSG00000107929.16	transcript	ENST00000316157.8	protein_coding	1/17			chr10	TogoVar
LARS2_chr3_45383576_45554407	45415872	TATATAGA others(25): Show TATATAGAGAGAGAGAGAGAGGGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18945.hp2 HG00609.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0144 a0001c0001t0014g0148 a0001c0001t0003g0144 a0001c0001t0014g0148	2	242	0.0083	-32	c.364 others(49): Show c.364-1608_364-1577delTATAGAGAGAGAGAGAGAGGGAGAGAGA GAGA	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
LASP1NB_chr17_38920614_38934381	38933519	TTGACATA others(25): Show TTGACATAAGATGGTATTTCCAGCTGCACCTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	-32	c.72 others(43): Show c.7224_*7255delTGACATAAGATGGTATTTCCAGCTGCACCTTC	LASP1NB	ENSG00000263874.3	transcript	ENST00000583195.3	protein_coding		4139		chr17	TogoVar
LAT2_chr7_74205006_74234834	74214524	AAATATAT others(25): Show AAATATATATATGAATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG01106.hp1 others(21): Show HG00639.hp1 HG00642.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG02132.hp1 HG02145.hp2 HG02155.hp2 HG02258.hp1 HG02486.hp1 HG02559.hp1 HG02683.hp1 HG02723.hp1 HG02809.hp1 HG03041.hp1 HG03453.hp2 HG03831.hp1 NA18612.hp1 NA18612.hp2 NA18947.hp2 NA18950.hp2 NA18971.hp1 NA19057.hp2 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0005 a0004c0007 a0001c0001 a0001c0005 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0004c0007t0001	a0001c0001t0001g0081 a0001c0001t0001g0097 a0001c0001t0001g0106 others(21): Show a0001c0001t0001g0081 a0001c0001t0001g0097 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0190 a0001c0001t0001g0207 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0225 a0001c0001t0001g0236 a0001c0001t0001g0257 a0001c0001t0002g0148 a0001c0005t0001g0093 a0004c0007t0001g0223	24	344	0.0698	-32	c.-21 others(49): Show c.-218-295_-218-264delTATATATATGAATATATATATATATATA TGAA	LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
LAT2_chr7_74205006_74234834	74214555	TGAAAATA others(25): Show TGAAAATATATATATATGAAAATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02280.hp1 NA18945.hp1 others(1): Show HG00621.hp1 HG02280.hp1 NA18945.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0001t0001g0046 others(1): Show a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047	4	344	0.0116	-32	c.-21 others(49): Show c.-218-266_-218-235delGAAAATATATATATATGAAAATATATAT ATAA	LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13			chr7	TogoVar
LATS2_chr13_20968036_21066586	20969697	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG03209.hp2 HG06807.hp1 others(1): Show HG02258.hp2 HG03209.hp2 HG06807.hp1 NA19043.hp2	a0004 a0005 a0004 a0005	a0004c0004 a0005c0016 a0004c0004 a0005c0016	a0004c0004t0019 a0004c0004t0030 a0005c0016t0014 a0004c0004t0019 a0004c0004t0030 a0005c0016t0014	a0004c0004t0019g0026 a0004c0004t0019g0292 a0004c0004t0030g0295 others(1): Show a0004c0004t0019g0026 a0004c0004t0019g0292 a0004c0004t0030g0295 a0005c0016t0014g0035	4	316	0.0127	-32	c.51 others(43): Show c.5141_*5172delATATATATATATATATATATATATATATATAT	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding		3338		chr13	TogoVar
LCE4A_chr1_152703160_152714434	152710006	CTCTCTCT others(25): Show CTCTCTCTCTGTGTGTGTGTGTGTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(34): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00558.hp1 HG00733.hp2 HG00741.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp2 HG02015.hp1 HG02258.hp2 HG02559.hp2 HG02572.hp2 HG03041.hp1 HG04115.hp1 NA18906.hp1 NA18945.hp1 NA18954.hp2 NA18966.hp2 NA18974.hp1 NA18994.hp1 NA18998.hp2 NA19078.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0001 a0008c0009t0001 a0001c0001t0001 a0008c0009t0001	a0001c0001t0001g0001 a0008c0009t0001g0001 a0001c0001t0001g0001 a0008c0009t0001g0001	37	416	0.0889	-32	c.63 others(41): Show c.632_*663delTCTCTCTCTGTGTGTGTGTGTGTGTGTGTGTG	LCE4A	ENSG00000187170.6	transcript	ENST00000368777.2	protein_coding		573		chr1	TogoVar
LCLAT1_chr2_30442246_30649225	30607845	CTGTGTGT others(25): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02280.hp2 HG02809.hp2 others(6): Show HG01433.hp1 HG02280.hp2 HG02809.hp2 HG02965.hp2 HG02970.hp1 HG03139.hp1 HG06807.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0354 a0001c0001t0008g0355 a0001c0001t0008g0356 others(6): Show a0001c0001t0008g0354 a0001c0001t0008g0355 a0001c0001t0008g0356 a0001c0001t0008g0357 a0001c0001t0008g0358 a0001c0001t0008g0359 a0001c0001t0008g0360 a0001c0001t0008g0361 a0001c0001t0008g0362	9	366	0.0246	-32	c.629 others(51): Show c.629-32248_629-32217delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	LCLAT1	ENSG00000172954.14	transcript	ENST00000379509.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
LCOR_chr10_96827298_97000956	96844090	ACCCTCCC others(25): Show ACCCTCCCTCCCTCCCTTCCTTCCCCCCTCCCT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp1 HG02717.hp1 others(6): Show HG01109.hp1 HG02257.hp1 HG02717.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp2 HG06807.hp2 NA19030.hp1 NA19043.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0021 a0004c0005t0042 a0004c0005t0043 others(6): Show a0004c0005t0021 a0004c0005t0042 a0004c0005t0043 a0004c0005t0045 a0004c0005t0046 a0004c0005t0047 a0004c0005t0048 a0004c0005t0049 a0004c0005t0050	a0004c0005t0021g0171 a0004c0005t0042g0170 a0004c0005t0043g0124 others(6): Show a0004c0005t0021g0171 a0004c0005t0042g0170 a0004c0005t0043g0124 a0004c0005t0045g0168 a0004c0005t0046g0125 a0004c0005t0047g0172 a0004c0005t0048g0167 a0004c0005t0049g0169 a0004c0005t0050g0173	9	288	0.0313	-32	c.-33 others(53): Show c.-330+10616_-330+10647delCCCTCCCTCCCTTCCTTCCCCCCT CCCTCCCT	LCOR	ENSG00000196233.14	transcript	ENST00000421806.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
LCP2_chr5_170241233_170302777	170290970	AAGAAAGA others(25): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG01081.hp1 others(16): Show HG00280.hp1 HG00639.hp1 HG01081.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG01975.hp1 HG01978.hp1 HG02015.hp1 HG02056.hp2 HG02293.hp1 HG02523.hp1 HG02818.hp2 HG03704.hp1 HG03834.hp2 NA18953.hp2 NA19065.hp2 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0002t0007 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0007 a0001c0003t0002 a0001c0004t0002 a0001c0004t0026 a0001c0005t0001 a0001c0005t0002 a0001c0006t0001	a0001c0001t0001g0262 a0001c0001t0001g0273 a0001c0002t0001g0263 others(16): Show a0001c0001t0001g0262 a0001c0001t0001g0273 a0001c0002t0001g0263 a0001c0002t0001g0272 a0001c0002t0001g0276 a0001c0002t0001g0279 a0001c0002t0007g0264 a0001c0003t0002g0265 a0001c0004t0002g0266 a0001c0004t0002g0277 a0001c0004t0002g0278 a0001c0004t0026g0231 a0001c0005t0001g0268 a0001c0005t0001g0271 a0001c0005t0001g0274 a0001c0005t0002g0267 a0001c0005t0002g0269 a0001c0006t0001g0270 a0001c0006t0001g0275	19	384	0.0495	-32	c.141 others(49): Show c.141+2308_141+2339delCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT	LCP2	ENSG00000043462.13	transcript	ENST00000046794.10	protein_coding	2/20			chr5	TogoVar
LCTL_chr15_66542532_66570998	66566739	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0227 a0007c0010t0001g0227	1	434	0.0023	-32	c.-93 others(41): Show c.-937_-906delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	LCTL	ENSG00000188501.12	transcript	ENST00000695545.1	protein_coding		742		chr15	TogoVar
LCTL_chr15_66542532_66570998	66568865	CACACACA others(25): Show CACACACACACATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02615.hp2 HG02809.hp1 HG02451.hp1 HG02615.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0001g0049 a0001c0001t0007g0058 a0001c0001t0001g0001 a0001c0001t0001g0049 a0001c0001t0007g0058	3	434	0.0069	-32	c.-30 others(43): Show c.-3063_-3032delATATATATATATATATATATATGTGTGTGTGT	LCTL	ENSG00000188501.12	transcript	ENST00000695545.1	protein_coding		2868		chr15	TogoVar
LCTL_chr15_66542532_66570998	66568867	CACACACA others(25): Show CACACACACATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01099.hp1 HG03486.hp2 HG01074.hp1 HG01099.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0218 a0001c0001t0001g0031 a0001c0001t0001g0218	3	434	0.0069	-32	c.-30 others(43): Show c.-3065_-3034delATATATATATATATATATATATATGTGTGTGT	LCTL	ENSG00000188501.12	transcript	ENST00000695545.1	protein_coding		2870		chr15	TogoVar
LCTL_chr15_66542532_66570998	66568869	CACACACA others(25): Show CACACACATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	434	0.0023	-32	c.-30 others(43): Show c.-3067_-3036delATATATATATATATATATATATATATGTGTGT	LCTL	ENSG00000188501.12	transcript	ENST00000695545.1	protein_coding		2872		chr15	TogoVar
LCTL_chr15_66542532_66570998	66568873	CACATATA others(25): Show CACATATATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 NA19077.hp1 HG00558.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0117 a0001c0001t0001g0036 a0001c0001t0001g0117	2	434	0.0046	-32	c.-30 others(43): Show c.-3071_-3040delATATATATATATATATATATATATATATATGT	LCTL	ENSG00000188501.12	transcript	ENST00000695545.1	protein_coding		2876		chr15	TogoVar
LCT_chr2_135782850_135842184	135835482	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0186 a0002c0002t0001g0186	1	366	0.0027	-32	c.640 others(49): Show c.640+1016_640+1047delTATATATATATATATATATATATATATA TATA	LCT	ENSG00000115850.10	transcript	ENST00000264162.7	protein_coding	1/16			chr2	TogoVar
LDB2_chr4_16496541_16903645	16519372	ACAGCTAT others(25): Show ACAGCTATTTGAAGGGCAGAGAAGAGGTTCAGT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	162	0.0062	-32	c.616 others(49): Show c.616-7300_616-7269delACTGAACCTCTTCTCTGCCCTTCAAATA GCTG	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	5/7			chr4	TogoVar
LDB2_chr4_16496541_16903645	16755520	TGTGTATG others(25): Show TGTGTATGTGAGAGAGAGAGAGACAGACAGACA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00438.hp2 others(23): Show HG00140.hp1 HG00140.hp2 HG00438.hp2 HG00741.hp2 HG01081.hp2 HG01169.hp1 HG01243.hp1 HG02015.hp1 HG02132.hp1 HG02602.hp1 HG02698.hp1 HG02809.hp2 HG02818.hp2 HG03017.hp1 HG03098.hp1 HG03579.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp2 HG06807.hp2 NA18522.hp2 NA18993.hp2 NA19070.hp2 NA20129.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0015 a0001c0001t0001g0041 a0001c0001t0001g0046 others(23): Show a0001c0001t0001g0015 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0132 a0001c0001t0001g0147 a0001c0001t0002g0040 a0001c0001t0002g0112 a0001c0001t0002g0122 a0001c0001t0003g0028 a0001c0001t0003g0068 a0001c0001t0003g0091 a0001c0001t0003g0131 a0001c0001t0003g0136 a0001c0001t0003g0152 a0001c0001t0003g0157 a0001c0001t0004g0062 a0001c0002t0001g0142 a0001c0002t0001g0156	26	162	0.1605	-32	c.235 others(49): Show c.235+3606_235+3637delTGTCTGTCTGTCTCTCTCTCTCTCACAT ACAC	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	2/7			chr4	TogoVar
LDB2_chr4_16496541_16903645	16897914	ATATATAT others(25): Show ATATATATATATATATATATATATACACATATG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	162	0.0062	-32	c.132 others(47): Show c.132+408_132+439delCATATGTGTATATATATATATATATATATA TA	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	1/7			chr4	TogoVar
LDHAL6A_chr11_18450856_18484601	18453586	GTATATGT others(25): Show GTATATGTGTATGTGTGTGTATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02895.hp1 HG02896.hp2 others(5): Show HG02818.hp2 HG02895.hp1 HG02896.hp2 HG03209.hp1 HG03453.hp1 HG03540.hp2 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0001t0032 a0001c0001t0037 others(3): Show a0001c0001t0019 a0001c0001t0032 a0001c0001t0037 a0001c0002t0013 a0001c0002t0031 a0001c0002t0034	a0001c0001t0019g0319 a0001c0001t0019g0320 a0001c0001t0032g0318 others(5): Show a0001c0001t0019g0319 a0001c0001t0019g0320 a0001c0001t0032g0318 a0001c0001t0037g0284 a0001c0002t0013g0289 a0001c0002t0013g0305 a0001c0002t0031g0287 a0001c0002t0034g0288	8	420	0.0191	-32	c.-30 others(43): Show c.-3094_-3063delTATATGTGTATGTGTGTGTATATATATATATA	LDHAL6A	ENSG00000166800.11	transcript	ENST00000280706.3	protein_coding		2269		chr11	TogoVar
LDHAL6A_chr11_18450856_18484601	18455865	CTCACACC others(25): Show CTCACACCTGCCAAGCATCACACCTGCCAAGCA	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00438.hp1 HG00621.hp2 HG00735.hp1 others(70): Show HG00438.hp1 HG00621.hp2 HG00735.hp1 HG00741.hp1 HG01074.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01515.hp2 HG01884.hp1 HG01928.hp1 HG02055.hp2 HG02083.hp2 HG02135.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02486.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03831.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18951.hp1 NA18953.hp2 NA18955.hp2 NA18965.hp1 NA18968.hp2 NA18988.hp1 NA18992.hp1 NA18995.hp2 NA19001.hp1 NA19009.hp2 NA19043.hp1 NA19055.hp2 NA19065.hp2 NA19066.hp2 NA19075.hp1 NA19077.hp1 NA19084.hp1 NA19088.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 others(22): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0002c0003t0004 a0002c0003t0012	a0001c0001t0004g0031 a0001c0001t0004g0322 a0001c0001t0004g0324 others(67): Show a0001c0001t0004g0031 a0001c0001t0004g0322 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0326 a0001c0001t0004g0327 a0001c0001t0004g0328 a0001c0001t0004g0330 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0004g0336 a0001c0001t0004g0338 a0001c0001t0004g0339 a0001c0001t0004g0340 a0001c0001t0004g0341 a0001c0001t0004g0342 a0001c0001t0004g0344 a0001c0001t0004g0346 a0001c0001t0004g0347 a0001c0001t0004g0348 a0001c0001t0004g0349 a0001c0001t0004g0350 a0001c0001t0004g0352 a0001c0001t0004g0353 a0001c0001t0004g0354 a0001c0001t0004g0355 a0001c0001t0004g0356 a0001c0001t0008g0029 a0001c0001t0008g0262 a0001c0001t0008g0263 a0001c0001t0008g0265 a0001c0001t0008g0266 a0001c0001t0008g0268 a0001c0001t0012g0052 a0001c0001t0012g0331 a0001c0001t0012g0343 a0001c0001t0015g0246 a0001c0001t0015g0247 a0001c0001t0015g0248 a0001c0001t0016g0126 a0001c0001t0016g0345 a0001c0001t0016g0358 a0001c0001t0021g0030 a0001c0001t0022g0274 a0001c0001t0022g0316 a0001c0001t0023g0279 a0001c0001t0023g0308 a0001c0001t0024g0241 a0001c0001t0024g0243 a0001c0001t0025g0312 a0001c0001t0025g0314 a0001c0001t0026g0242 a0001c0001t0026g0244 a0001c0001t0061g0270 a0001c0001t0062g0084 a0001c0001t0063g0098 a0001c0001t0064g0363 a0001c0001t0065g0337 a0001c0001t0066g0323 a0001c0001t0067g0197 a0001c0001t0068g0313 a0001c0001t0069g0261 a0001c0001t0070g0311 a0001c0001t0071g0269 a0001c0001t0072g0267 a0002c0003t0004g0357 a0002c0003t0012g0351 a0002c0003t0012g0359	73	420	0.1738	-32	c.-77 others(41): Show c.-773_-742delCAAGCATCACACCTGCCAAGCATCACACCTGC	LDHAL6A	ENSG00000166800.11	transcript	ENST00000280706.3	protein_coding	1/7	742	INFO_REALIGN_3_PRIME	chr11	TogoVar

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