JoGo: Joint Open Genome and Omics Platform

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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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
KRTAP5-2_chr11_1592177_1603294	1601522	GAGCGAGA others(12): Show GAGCGAGACCCTGTCTCAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	412	0.0024	-19	c.-32 others(30): Show c.-3291_-3273delTTTGAGACAGGGTCTCGCT	KRTAP5-2	ENSG00000205867.3	transcript	ENST00000412090.2	protein_coding		3229		chr11	TogoVar
KRTAP5-6_chr11_1692195_1702755	1695864	TTCCTGCC others(12): Show TTCCTGCCCTGATCCTGTGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 NA20752.hp1 HG03098.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	423	0.0047	-19	c.-13 others(30): Show c.-1381_-1363delTCCTGCCCTGATCCTGTGG	KRTAP5-6	ENSG00000205864.1	transcript	ENST00000382160.1	protein_coding		1330		chr11	TogoVar
KRTCAP3_chr2_27437381_27449297	27439995	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	286	0.0035	-19	c.-24 others(30): Show c.-2417_-2399delTTTTTTTTTTTTTTTTTTT	KRTCAP3	ENSG00000157992.12	transcript	ENST00000288873.7	protein_coding		2385		chr2	TogoVar
KSR2_chr12_117448012_117973990	117606584	TCTTCCTT others(12): Show TCTTCCTTCCTTCTTTCCTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG00609.hp2 others(55): Show HG00280.hp1 HG00597.hp1 HG00609.hp2 HG01071.hp1 HG01074.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02074.hp1 HG02523.hp1 HG02723.hp2 HG02895.hp2 HG02976.hp1 HG03041.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03669.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG06807.hp2 NA18943.hp1 NA18944.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18964.hp1 NA18968.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18983.hp1 NA19000.hp2 NA19011.hp2 NA19043.hp2 NA19056.hp2 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19074.hp1 NA19081.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0002c0010 a0003c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0001t0025 a0001c0001t0034 a0001c0001t0035 a0001c0001t0044 a0001c0001t0045 a0001c0001t0076 a0001c0001t0077 a0001c0001t0129 a0001c0001t0134 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 a0001c0002t0012 a0001c0002t0015 a0001c0002t0022 a0001c0002t0031 a0001c0002t0038 a0001c0002t0039 a0001c0002t0041 a0001c0002t0051 a0001c0002t0052 a0001c0002t0053 a0001c0002t0062 a0001c0002t0066 a0001c0002t0074 a0001c0002t0075 a0001c0002t0079 a0001c0002t0113 a0001c0002t0115 a0001c0002t0124 a0001c0002t0131 a0001c0002t0132 a0001c0002t0145 a0001c0002t0147 a0001c0002t0148 a0001c0003t0108 a0001c0004t0003 a0001c0004t0006 a0001c0004t0014 a0001c0004t0056 a0001c0004t0082 a0001c0004t0096 a0001c0004t0117 a0001c0004t0146 a0001c0007t0151 a0002c0010t0013 a0003c0018t0049	a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0002g0101 others(55): Show a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0002g0101 a0001c0001t0004g0102 a0001c0001t0014g0066 a0001c0001t0025g0192 a0001c0001t0034g0026 a0001c0001t0035g0015 a0001c0001t0044g0019 a0001c0001t0045g0017 a0001c0001t0076g0073 a0001c0001t0077g0065 a0001c0001t0129g0100 a0001c0001t0134g0121 a0001c0002t0001g0112 a0001c0002t0002g0086 a0001c0002t0002g0091 a0001c0002t0002g0158 a0001c0002t0003g0010 a0001c0002t0004g0109 a0001c0002t0009g0183 a0001c0002t0009g0191 a0001c0002t0012g0035 a0001c0002t0015g0076 a0001c0002t0022g0160 a0001c0002t0031g0005 a0001c0002t0038g0021 a0001c0002t0039g0023 a0001c0002t0041g0027 a0001c0002t0051g0034 a0001c0002t0052g0041 a0001c0002t0053g0038 a0001c0002t0062g0056 a0001c0002t0066g0047 a0001c0002t0074g0063 a0001c0002t0075g0069 a0001c0002t0079g0077 a0001c0002t0113g0156 a0001c0002t0115g0110 a0001c0002t0124g0123 a0001c0002t0131g0085 a0001c0002t0132g0095 a0001c0002t0145g0193 a0001c0002t0147g0188 a0001c0002t0148g0186 a0001c0003t0108g0083 a0001c0004t0003g0029 a0001c0004t0006g0090 a0001c0004t0014g0070 a0001c0004t0056g0033 a0001c0004t0082g0078 a0001c0004t0096g0105 a0001c0004t0117g0092 a0001c0004t0146g0185 a0001c0007t0151g0196 a0002c0010t0013g0049 a0002c0010t0013g0050 a0003c0018t0049g0037	58	196	0.2959	-19	c.117 others(40): Show c.1172-24244_1172-24226delGAGGAAAGAAGGAAGGAAG	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	5/19			chr12	TogoVar
KSR2_chr12_117448012_117973990	117847865	CAGTTCAA others(12): Show CAGTTCAATCCTGAAGTCCT	C C	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	196	0.0051	-19	c.472 others(36): Show c.472+7544_472+7562delAGGACTTCAGGATTGAACT	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	3/19			chr12	TogoVar
KTN1_chr14_55575207_55689579	55646441	CTTTTCCT others(12): Show CTTTTCCTTTTCCTTTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01993.hp1 HG04184.hp1 HG01099.hp2 HG01993.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0285 a0001c0001t0002g0288 a0001c0001t0002g0048 a0001c0001t0002g0285 a0001c0001t0002g0288	3	314	0.0096	-19	c.217 others(36): Show c.2173-528_2173-510delTCCTTTTCCTTTTCCTTTT	KTN1	ENSG00000126777.18	transcript	ENST00000395314.8	protein_coding	18/43		INFO_REALIGN_3_PRIME	chr14	TogoVar
KTN1_chr14_55575207_55689579	55646464	CCTTTCCT others(12): Show CCTTTCCTTTCCTTTCCTTT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	314	0.0032	-19	c.217 others(36): Show c.2173-507_2173-489delTTTCCTTTCCTTTCCTTTC	KTN1	ENSG00000126777.18	transcript	ENST00000395314.8	protein_coding	18/43		INFO_REALIGN_3_PRIME	chr14	TogoVar
KYAT1_chr9_128827942_128886950	128830632	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 NA20300.hp1 HG03041.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0231 a0001c0001t0002g0207 a0001c0001t0002g0231	2	326	0.0061	-19	c.29 others(30): Show c.2933_*2951delAAAAAAAAAAAAAAAAAAA	KYAT1	ENSG00000171097.14	transcript	ENST00000302586.8	protein_coding		2309		chr9	TogoVar
KYAT1_chr9_128827942_128886950	128865326	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0258	1	326	0.0031	-19	c.-7+ others(36): Show c.-7+16552_-7+16570delTATATATATATATATATAT	KYAT1	ENSG00000171097.14	transcript	ENST00000302586.8	protein_coding	1/12			chr9	TogoVar
KYAT1_chr9_128827942_128886950	128865330	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	326	0.0031	-19	c.-7+ others(36): Show c.-7+16548_-7+16566delTATATATATATATATATAT	KYAT1	ENSG00000171097.14	transcript	ENST00000302586.8	protein_coding	1/12			chr9	TogoVar
L1CAM_chrX_153856516_153891173	153860511	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02622.hp2 HG03041.hp2 others(2): Show HG02280.hp2 HG02622.hp2 HG03041.hp2 HG06807.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 a0001c0004t0001	a0001c0001t0001g0085 a0001c0001t0001g0160 a0001c0001t0009g0174 others(2): Show a0001c0001t0001g0085 a0001c0001t0001g0160 a0001c0001t0009g0174 a0001c0001t0012g0049 a0001c0004t0001g0077	5	283	0.0177	-19	c.21 others(30): Show c.2133_*2151delAAAGAAAGAAAGAAAGAAA	L1CAM	ENSG00000198910.14	transcript	ENST00000370060.7	protein_coding		1004		chrX	TogoVar
L3MBTL4_chr18_5949717_6419911	6265678	AAGTGAAA others(12): Show AAGTGAAATAAGTTAGGCAC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02818.hp1 HG02922.hp1 others(1): Show HG02559.hp1 HG02818.hp1 HG02922.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0005g0075 others(1): Show a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0005g0075 a0001c0001t0005g0088	4	94	0.0426	-19	c.128 others(36): Show c.128-1659_128-1641delGTGCCTAACTTATTTCACT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	4/18			chr18	TogoVar
LACTB2_chr8_70632266_70674185	70643208	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00673.hp2 HG00738.hp1 others(40): Show HG00140.hp2 HG00673.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01167.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01884.hp2 HG01978.hp2 HG01993.hp2 HG02055.hp1 HG02145.hp1 HG02148.hp2 HG02257.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02970.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03927.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0079 a0001c0002t0003g0008 a0001c0002t0003g0020 others(30): Show a0001c0002t0001g0079 a0001c0002t0003g0008 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0027 a0001c0002t0003g0045 a0001c0002t0003g0046 a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0050 a0001c0002t0003g0051 a0001c0002t0003g0052 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0056 a0001c0002t0003g0057 a0001c0002t0003g0058 a0001c0002t0003g0061 a0001c0002t0003g0062 a0001c0002t0003g0063 a0001c0002t0003g0064 a0001c0002t0003g0083 a0001c0002t0003g0084 a0001c0002t0003g0085 a0001c0002t0003g0086 a0001c0002t0003g0202 a0001c0002t0003g0203	43	352	0.1222	-19	c.592 others(34): Show c.592+838_592+856delAAAAAAAAAAAAAAAAAAA	LACTB2	ENSG00000147592.9	transcript	ENST00000276590.5	protein_coding	4/6			chr8	TogoVar
LAIR2_chr19_54497831_54515687	54514555	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02738.hp2 HG02976.hp2 HG01109.hp2 HG02738.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0094 a0001c0001t0003g0005 a0001c0001t0003g0119 a0001c0001t0001g0094 a0001c0001t0003g0005 a0001c0001t0003g0119	3	475	0.0063	-19	c.39 others(30): Show c.3987_*4005delTTTTTTTTTTTTTTTTTTT	LAIR2	ENSG00000167618.10	transcript	ENST00000301202.7	protein_coding		3869		chr19	TogoVar
LAMA3_chr18_23684453_23960066	23750432	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18960.hp1 NA18951.hp2 NA18960.hp1	a0002 a0002	a0002c0003 a0002c0050 a0002c0003 a0002c0050	a0002c0003t0001 a0002c0050t0001 a0002c0003t0001 a0002c0050t0001	a0002c0003t0001g0110 a0002c0050t0001g0212 a0002c0003t0001g0110 a0002c0050t0001g0212	2	280	0.0071	-19	c.685 others(34): Show c.685-469_685-451delTTTTTTTTTTTTTTTTTTT	LAMA3	ENSG00000053747.17	transcript	ENST00000313654.14	protein_coding	4/74		INFO_REALIGN_3_PRIME	chr18	TogoVar
LAMA5_chr20_62304065_62372312	62321194	TGGGGCCA others(12): Show TGGGGCCAGTGGAGGAAGAG	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0000 a0000	a0000c0094 a0000c0094	a0000c0094t0001 a0000c0094t0001	a0000c0094t0001g0098 a0000c0094t0001g0098	1	186	0.0054	-19	c.649 others(36): Show c.6497-323_6497-305delCTCTTCCTCCACTGGCCCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	48/79			chr20	TogoVar
LAMB4_chr7_108018553_108135361	108043545	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02818.hp1 HG04204.hp1 others(2): Show HG02145.hp1 HG02818.hp1 HG04204.hp1 NA19030.hp1 NA19043.hp1	a0006 a0011 a0017 others(1): Show a0006 a0011 a0017 a0031	a0006c0016 a0011c0014 a0017c0041 others(1): Show a0006c0016 a0011c0014 a0017c0041 a0031c0053	a0006c0016t0001 a0006c0016t0002 a0011c0014t0001 others(2): Show a0006c0016t0001 a0006c0016t0002 a0011c0014t0001 a0017c0041t0001 a0031c0053t0001	a0006c0016t0001g0083 a0006c0016t0002g0101 a0011c0014t0001g0214 others(2): Show a0006c0016t0001g0083 a0006c0016t0002g0101 a0011c0014t0001g0214 a0017c0041t0001g0003 a0031c0053t0001g0074	5	292	0.0171	-19	c.447 others(36): Show c.4471+188_4471+206delAAAAAAAAAAAAAAAAAAA	LAMB4	ENSG00000091128.13	transcript	ENST00000388781.8	protein_coding	29/33			chr7	TogoVar
LAMB4_chr7_108018553_108135361	108066053	AAACGACT others(12): Show AAACGACTTTTGGTTTTTAT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02109.hp2 HG02257.hp2 others(4): Show HG01496.hp1 HG02109.hp2 HG02257.hp2 HG02647.hp1 HG03041.hp1 HG03540.hp1 NA19043.hp2	a0003 a0007 a0010 a0003 a0007 a0010	a0003c0004 a0007c0011 a0010c0013 a0003c0004 a0007c0011 a0010c0013	a0003c0004t0002 a0007c0011t0002 a0010c0013t0002 a0003c0004t0002 a0007c0011t0002 a0010c0013t0002	a0003c0004t0002g0225 a0007c0011t0002g0156 a0007c0011t0002g0157 others(4): Show a0003c0004t0002g0225 a0007c0011t0002g0156 a0007c0011t0002g0157 a0010c0013t0002g0161 a0010c0013t0002g0171 a0010c0013t0002g0173 a0010c0013t0002g0221	7	292	0.0240	-19	c.267 others(36): Show c.2679-153_2679-135delATAAAAACCAAAAGTCGTT	LAMB4	ENSG00000091128.13	transcript	ENST00000388781.8	protein_coding	20/33			chr7	TogoVar
LAMB4_chr7_108018553_108135361	108133528	AGTAGAAA others(12): Show AGTAGAAACGGGGTTTCACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 NA19090.hp1 HG02080.hp2 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0238 a0001c0002t0003g0176 a0001c0002t0001g0238 a0001c0002t0003g0176	2	292	0.0069	-19	c.-32 others(30): Show c.-3275_-3257delGGTGAAACCCCGTTTCTAC	LAMB4	ENSG00000091128.13	transcript	ENST00000388781.8	protein_coding		3168		chr7	TogoVar
LAMC3_chr9_131004174_131099473	131096385	TGGCGGGA others(12): Show TGGCGGGAGGGGAGGGGAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(53): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00642.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01516.hp1 HG01517.hp2 HG01943.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp2 HG02055.hp2 HG02080.hp2 HG02083.hp1 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02818.hp1 HG03017.hp2 HG03704.hp2 HG03710.hp2 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 NA18943.hp1 NA18951.hp2 NA18961.hp1 NA18962.hp2 NA18966.hp2 NA18998.hp2 NA18999.hp2 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1	a0002 a0004 a0009 others(16): Show a0002 a0004 a0009 a0017 a0018 a0024 a0038 a0043 a0044 a0046 a0070 a0074 a0077 a0078 a0079 a0095 a0096 a0098 a0100	a0002c0021 a0004c0007 a0004c0016 others(31): Show a0002c0021 a0004c0007 a0004c0016 a0004c0029 a0004c0172 a0004c0175 a0004c0185 a0009c0005 a0009c0042 a0009c0046 a0009c0132 a0009c0146 a0017c0195 a0018c0006 a0018c0169 a0024c0044 a0024c0136 a0024c0149 a0038c0177 a0038c0200 a0043c0033 a0044c0067 a0044c0075 a0046c0118 a0046c0129 a0070c0198 a0074c0167 a0077c0170 a0078c0154 a0079c0064 a0095c0098 a0096c0135 a0098c0102 a0100c0096	a0002c0021t0001 a0004c0007t0003 a0004c0007t0018 others(38): Show a0002c0021t0001 a0004c0007t0003 a0004c0007t0018 a0004c0016t0003 a0004c0016t0017 a0004c0029t0003 a0004c0172t0003 a0004c0175t0003 a0004c0185t0030 a0009c0005t0003 a0009c0042t0003 a0009c0042t0011 a0009c0046t0003 a0009c0132t0029 a0009c0146t0003 a0017c0195t0001 a0018c0006t0003 a0018c0006t0017 a0018c0006t0044 a0018c0169t0003 a0024c0044t0003 a0024c0044t0011 a0024c0136t0018 a0024c0149t0011 a0038c0177t0005 a0038c0200t0005 a0043c0033t0003 a0043c0033t0031 a0044c0067t0003 a0044c0075t0003 a0046c0118t0005 a0046c0129t0005 a0070c0198t0003 a0074c0167t0005 a0077c0170t0037 a0078c0154t0003 a0079c0064t0043 a0095c0098t0003 a0096c0135t0003 a0098c0102t0005 a0100c0096t0003	a0002c0021t0001g0092 a0002c0021t0001g0190 a0004c0007t0003g0300 others(53): Show a0002c0021t0001g0092 a0002c0021t0001g0190 a0004c0007t0003g0300 a0004c0007t0003g0325 a0004c0007t0003g0326 a0004c0007t0003g0335 a0004c0007t0018g0338 a0004c0016t0003g0287 a0004c0016t0003g0299 a0004c0016t0003g0311 a0004c0016t0017g0286 a0004c0029t0003g0262 a0004c0029t0003g0263 a0004c0029t0003g0278 a0004c0172t0003g0095 a0004c0175t0003g0093 a0004c0185t0030g0308 a0009c0005t0003g0145 a0009c0005t0003g0161 a0009c0005t0003g0183 a0009c0005t0003g0202 a0009c0005t0003g0229 a0009c0042t0003g0153 a0009c0042t0011g0015 a0009c0046t0003g0141 a0009c0046t0003g0188 a0009c0132t0029g0140 a0009c0146t0003g0197 a0017c0195t0001g0331 a0018c0006t0003g0270 a0018c0006t0003g0332 a0018c0006t0003g0333 a0018c0006t0017g0281 a0018c0006t0044g0265 a0018c0169t0003g0277 a0024c0044t0003g0109 a0024c0044t0011g0149 a0024c0136t0018g0211 a0024c0149t0011g0244 a0038c0177t0005g0304 a0038c0200t0005g0097 a0043c0033t0003g0085 a0043c0033t0031g0054 a0044c0067t0003g0261 a0044c0075t0003g0115 a0046c0118t0005g0203 a0046c0129t0005g0019 a0070c0198t0003g0285 a0074c0167t0005g0297 a0077c0170t0037g0089 a0078c0154t0003g0218 a0079c0064t0043g0220 a0095c0098t0003g0351 a0096c0135t0003g0073 a0098c0102t0005g0108 a0100c0096t0003g0080	56	360	0.1556	-19	c.45 others(30): Show c.4599_*4617delGGCGGGAGGGGAGGGGAGA	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding		1913		chr9	TogoVar
LAMC3_chr9_131004174_131099473	131096421	AGAGGCGG others(12): Show AGAGGCGGGAGGGGAGGGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG03139.hp2 HG03516.hp2 others(2): Show HG02622.hp2 HG03139.hp2 HG03516.hp2 HG03540.hp1 NA19030.hp2	a0028 a0069 a0076 others(2): Show a0028 a0069 a0076 a0082 a0104	a0028c0025 a0069c0193 a0076c0161 others(2): Show a0028c0025 a0069c0193 a0076c0161 a0082c0062 a0104c0215	a0028c0025t0006 a0069c0193t0006 a0076c0161t0006 others(2): Show a0028c0025t0006 a0069c0193t0006 a0076c0161t0006 a0082c0062t0006 a0104c0215t0006	a0028c0025t0006g0090 a0069c0193t0006g0103 a0076c0161t0006g0266 others(2): Show a0028c0025t0006g0090 a0069c0193t0006g0103 a0076c0161t0006g0266 a0082c0062t0006g0012 a0104c0215t0006g0039	5	360	0.0139	-19	c.46 others(30): Show c.4635_*4653delGAGGCGGGAGGGGAGGGGC	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding		1949		chr9	TogoVar
LAMP1_chr13_113292239_113328672	113301639	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03130.hp1 HG03209.hp1 HG02723.hp2 HG03130.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0062 a0001c0001t0003g0074 a0001c0001t0003g0043 a0001c0001t0003g0062 a0001c0001t0003g0074	3	354	0.0085	-19	c.61+ others(34): Show c.61+4146_61+4164delAAAAATATATATATATATA	LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
LAMP1_chr13_113292239_113328672	113301641	AAAAATAT others(12): Show AAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03041.hp1 HG02615.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0072 a0001c0001t0003g0073	2	354	0.0057	-19	c.61+ others(34): Show c.61+4148_61+4166delAAATATATATATATATATA	LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
LAMP3_chr3_183117215_183167734	183149563	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00544.hp2 others(23): Show HG00408.hp1 HG00408.hp2 HG00544.hp2 HG01070.hp1 HG01123.hp1 HG01258.hp2 HG01934.hp2 HG01952.hp2 HG02015.hp1 HG02083.hp2 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02293.hp1 HG02300.hp2 HG03654.hp2 HG03710.hp2 HG03831.hp1 NA18946.hp1 NA18967.hp2 NA18969.hp2 NA18981.hp2 NA19005.hp1 NA19068.hp1 NA19084.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0084 others(20): Show a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0084 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0183 a0001c0001t0001g0187 a0002c0002t0001g0124 a0002c0002t0001g0127 a0002c0002t0001g0136	26	372	0.0699	-19	c.888 others(36): Show c.888+2793_888+2811delATATATATTTTTTTTTTTT	LAMP3	ENSG00000078081.8	transcript	ENST00000265598.8	protein_coding	3/5			chr3	TogoVar
LAMP3_chr3_183117215_183167734	183149565	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02572.hp1 HG02895.hp2 others(1): Show HG01978.hp2 HG02572.hp1 HG02895.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0289 others(1): Show a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0289 a0001c0001t0003g0117	4	372	0.0108	-19	c.888 others(36): Show c.888+2791_888+2809delATATATATATTTTTTTTTT	LAMP3	ENSG00000078081.8	transcript	ENST00000265598.8	protein_coding	3/5			chr3	TogoVar
LANCL2_chr7_55360337_55438737	55379032	GAGGCAGG others(12): Show GAGGCAGGAGAATGGTGTGA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03579.hp2 HG03225.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0013	a0001c0004t0013g0032 a0001c0004t0013g0033 a0001c0004t0013g0032 a0001c0004t0013g0033	2	352	0.0057	-19	c.205 others(38): Show c.205-12739_205-12721delGCAGGAGAATGGTGTGAAG	LANCL2	ENSG00000132434.10	transcript	ENST00000254770.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
LARGE1_chr22_33267509_33925476	33510969	AGGCAAGC others(12): Show AGGCAAGCATATATACAAAT	A A	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	110	0.0091	-19	c.787 others(38): Show c.787+53860_787+53878delATTTGTATATATGCTTGCC	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	6/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33730705	TTTGAGAC others(12): Show TTTGAGACGGAGTTTTACTC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0027 a0001c0001t0005g0027	1	110	0.0091	-19	c.106 others(38): Show c.106+30647_106+30665delGAGTAAAACTCCGTCTCAA	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	2/14			chr22	TogoVar
LARGE2_chr11_45917656_45934096	45923985	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG06807.hp2 HG03130.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	2	418	0.0048	-19	c.369 others(34): Show c.369-149_369-131delAAAAAAAAAAAAAAAAAAA	LARGE2	ENSG00000165905.18	transcript	ENST00000401752.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
LARGE2_chr11_45917656_45934096	45925661	TAAATAAG others(12): Show TAAATAAGTAAATAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	418	0.0024	-19	c.770 others(34): Show c.770-356_770-338delATAAGTAAATAAATAAAAA	LARGE2	ENSG00000165905.18	transcript	ENST00000401752.6	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
LARP1B_chr4_128056312_128216988	128073572	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01109.hp1 HG02723.hp1 others(4): Show HG01099.hp1 HG01109.hp1 HG02723.hp1 HG03041.hp2 HG03098.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0170 a0001c0001t0001g0275 a0002c0002t0002g0026 others(4): Show a0001c0001t0001g0170 a0001c0001t0001g0275 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0029 a0002c0002t0002g0094 a0002c0002t0002g0130	7	336	0.0208	-19	c.-77 others(34): Show c.-77-869_-77-851delTTTTTTTTTTTTTTTTTTT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128129164	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01192.hp1 HG02486.hp2 others(10): Show HG01070.hp1 HG01192.hp1 HG02486.hp2 HG02647.hp1 HG02809.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG03486.hp2 HG06807.hp2 NA19002.hp2 NA19240.hp2 NA20300.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 a0007c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0004g0328 a0001c0001t0017g0106 a0007c0008t0001g0138 a0007c0008t0001g0139 a0007c0008t0001g0158	13	336	0.0387	-19	c.152 others(38): Show c.1524+6998_1524+7016delAAAAAAAAAAAAAAAAAAA	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	11/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP4B_chr10_804497_936705	905660	GGGGAGGA others(12): Show GGGGAGGAGCTGAGGAGCAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(180): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp2 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18946.hp2 NA18947.hp2 NA18954.hp1 NA18957.hp2 NA18962.hp2 NA18966.hp1 NA18967.hp1 NA18971.hp1 NA18972.hp2 NA18977.hp1 NA18979.hp1 NA18983.hp1 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA19004.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19077.hp2 NA19088.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0002t0001 a0001c0004t0027 a0001c0005t0001 a0002c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(179): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0105 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0163 a0001c0001t0001g0185 a0001c0001t0001g0198 a0001c0001t0001g0211 a0001c0001t0001g0222 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0249 a0001c0001t0001g0262 a0001c0001t0002g0047 a0001c0001t0002g0063 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0132 a0001c0001t0002g0139 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0164 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0193 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0234 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0286 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0006g0131 a0001c0001t0006g0151 a0001c0001t0006g0159 a0001c0001t0006g0161 a0001c0001t0006g0162 a0001c0001t0006g0226 a0001c0001t0007g0241 a0001c0001t0007g0242 a0001c0001t0007g0244 a0001c0001t0007g0245 a0001c0001t0007g0246 a0001c0001t0007g0247 a0001c0001t0008g0173 a0001c0001t0008g0177 a0001c0001t0008g0191 a0001c0001t0008g0192 a0001c0001t0008g0228 a0001c0001t0009g0122 a0001c0001t0009g0250 a0001c0001t0010g0088 a0001c0001t0010g0140 a0001c0001t0010g0251 a0001c0001t0011g0003 a0001c0001t0012g0070 a0001c0001t0012g0097 a0001c0001t0012g0098 a0001c0001t0012g0146 a0001c0001t0013g0256 a0001c0001t0013g0257 a0001c0001t0013g0258 a0001c0001t0015g0116 a0001c0001t0015g0119 a0001c0001t0015g0120 a0001c0001t0016g0194 a0001c0001t0016g0220 a0001c0001t0019g0113 a0001c0001t0019g0127 a0001c0001t0020g0073 a0001c0001t0020g0195 a0001c0001t0021g0112 a0001c0001t0021g0114 a0001c0001t0024g0171 a0001c0001t0026g0240 a0001c0001t0028g0160 a0001c0001t0030g0123 a0001c0001t0031g0015 a0001c0001t0032g0093 a0001c0001t0034g0176 a0001c0001t0036g0184 a0001c0001t0037g0243 a0001c0001t0038g0239 a0001c0001t0039g0261 a0001c0001t0040g0014 a0001c0001t0043g0248 a0001c0001t0044g0271 a0001c0001t0045g0284 a0001c0001t0046g0285 a0001c0002t0001g0061 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0004t0027g0252 a0001c0005t0001g0095 a0002c0006t0001g0129	183	288	0.6354	-19	c.-39 others(38): Show c.-39-19919_-39-19901delTTGCTCCTCAGCTCCTCCC	LARP4B	ENSG00000107929.16	transcript	ENST00000316157.8	protein_coding	1/17			chr10	TogoVar
LARS1_chr5_146108034_146187650	146139779	GCAGGAGA others(12): Show GCAGGAGAATGGCGTGAACC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00438.hp1 others(135): Show HG00099.hp1 HG00323.hp2 HG00438.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp1 NA18944.hp2 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18967.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19007.hp2 NA19043.hp2 NA19056.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19068.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA19085.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20752.hp1 NA20905.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0005 a0001c0008 others(2): Show a0001c0001 a0001c0005 a0001c0008 a0005c0010 a0006c0009	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0005t0001 a0001c0008t0001 a0005c0010t0001 a0006c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0013 others(134): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0007g0017 a0001c0001t0007g0051 a0001c0001t0007g0097 a0001c0001t0008g0075 a0001c0001t0008g0117 a0001c0001t0010g0005 a0001c0001t0011g0012 a0001c0005t0001g0052 a0001c0005t0001g0074 a0001c0005t0001g0111 a0001c0005t0001g0112 a0001c0005t0001g0115 a0001c0005t0001g0116 a0001c0008t0001g0059 a0005c0010t0001g0121 a0006c0009t0001g0032	138	284	0.4859	-19	c.214 others(36): Show c.2148+406_2148+424delGGTTCACGCCATTCTCCTG	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	21/31			chr5	TogoVar
LARS1_chr5_146108034_146187650	146181848	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02647.hp2 HG02886.hp2 others(3): Show HG01891.hp1 HG02647.hp2 HG02886.hp2 HG02922.hp2 HG03098.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0197 a0001c0001t0001g0198	6	284	0.0211	-19	c.6+6 others(30): Show c.6+621_6+639delAAAAAAAAAAAAAAAAAAA	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	1/31			chr5	TogoVar
LAT2_chr7_74205006_74234834	74219009	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01081.hp2 HG00323.hp1 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0040 a0001c0002t0001g0016 a0001c0001t0001g0040 a0001c0002t0001g0016	2	344	0.0058	-19	c.135 others(34): Show c.135-715_135-697delTTTTTTTTTTTTTTTTTTT	LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
LATS2_chr13_20968036_21066586	20969694	AAAAATAT others(12): Show AAAAATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0018 a0002c0014t0018	a0002c0014t0018g0039 a0002c0014t0018g0039	1	316	0.0032	-19	c.51 others(30): Show c.5157_*5175delATATATATATATATATTTT	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding		3341		chr13	TogoVar
LATS2_chr13_20968036_21066586	20969698	ATATATAT others(12): Show ATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG01358.hp2 others(17): Show HG00438.hp1 HG00597.hp1 HG01358.hp2 HG02622.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03453.hp2 HG03492.hp2 HG04204.hp1 NA18954.hp2 NA18983.hp2 NA18984.hp2 NA18998.hp1 NA19005.hp2 NA19063.hp2 NA19064.hp2 NA19074.hp2 NA19085.hp2 NA19091.hp1	a0001 a0004 a0006 others(2): Show a0001 a0004 a0006 a0008 a0013	a0001c0001 a0001c0010 a0004c0004 others(3): Show a0001c0001 a0001c0010 a0004c0004 a0006c0011 a0008c0033 a0013c0029	a0001c0001t0001 a0001c0001t0010 a0001c0001t0022 others(5): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0022 a0001c0010t0001 a0004c0004t0005 a0006c0011t0001 a0008c0033t0001 a0013c0029t0001	a0001c0001t0001g0178 a0001c0001t0001g0191 a0001c0001t0001g0192 others(17): Show a0001c0001t0001g0178 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0280 a0001c0001t0010g0112 a0001c0001t0022g0174 a0001c0010t0001g0061 a0004c0004t0005g0251 a0004c0004t0005g0290 a0004c0004t0005g0311 a0006c0011t0001g0080 a0008c0033t0001g0304 a0013c0029t0001g0243	20	316	0.0633	-19	c.51 others(30): Show c.5153_*5171delATATATATATATATATATA	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding		3337		chr13	TogoVar
LATS2_chr13_20968036_21066586	21023665	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0003 a0003	a0003c0032 a0003c0032	a0003c0032t0016 a0003c0032t0016	a0003c0032t0016g0315 a0003c0032t0016g0315	1	316	0.0032	-19	c.342 others(38): Show c.342+22001_342+22019delGTTTTTTTTTTTTTTTTTT	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7			chr13	TogoVar
LATS2_chr13_20968036_21066586	21030593	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01358.hp1 HG01496.hp2 others(10): Show HG00597.hp2 HG01358.hp1 HG01496.hp2 HG01943.hp2 HG02145.hp2 NA18969.hp1 NA18991.hp2 NA18999.hp2 NA19011.hp1 NA19012.hp2 NA19058.hp2 NA19064.hp1 NA19079.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0011 a0002c0006t0004g0012 a0002c0006t0004g0015 others(10): Show a0002c0006t0004g0011 a0002c0006t0004g0012 a0002c0006t0004g0015 a0002c0006t0004g0019 a0002c0006t0004g0020 a0002c0006t0004g0021 a0002c0006t0004g0022 a0002c0006t0004g0164 a0002c0006t0004g0169 a0002c0006t0004g0210 a0002c0006t0004g0212 a0002c0006t0004g0213 a0002c0006t0004g0219	13	316	0.0411	-19	c.342 others(38): Show c.342+15073_342+15091delCTTTTTTTTTTTTTTTTTT	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7			chr13	TogoVar
LAX1_chr1_203760183_203781372	203769398	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0295 a0001c0001t0003g0295	1	422	0.0024	-19	c.90- others(34): Show c.90-1427_90-1409delGAAAGAAAGAAAGAAAGAA	LAX1	ENSG00000122188.13	transcript	ENST00000442561.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
LBHD1_chr11_62657817_62677267	62658722	CCTCCCGG others(12): Show CCTCCCGGGTTCACACCATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0001 a0001c0004 a0003c0003 others(2): Show a0001c0001 a0001c0004 a0003c0003 a0005c0006 a0006c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0004t0001 a0003c0003t0001 a0005c0006t0001 a0006c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(100): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0015 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0078 a0001c0001t0002g0086 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0096 a0001c0001t0002g0103 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0126 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0004g0005 a0001c0001t0004g0012 a0001c0001t0004g0022 a0001c0001t0004g0033 a0001c0001t0004g0044 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0138 a0001c0001t0007g0110 a0001c0001t0008g0150 a0001c0004t0001g0082 a0003c0003t0001g0123 a0003c0003t0001g0124 a0005c0006t0001g0145 a0006c0005t0001g0122	267	360	0.7417	-19	c.43 others(30): Show c.4388_*4406delAATGGTGTGAACCCGGGAG	LBHD1	ENSG00000162194.13	transcript	ENST00000354588.8	protein_coding		4094		chr11	TogoVar
LCA5_chr6_79479991_79542430	79525764	TTTGTAAC others(12): Show TTTGTAACTAACAACTGACC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00609.hp2 others(149): Show HG00280.hp2 HG00438.hp2 HG00609.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01256.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02027.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02280.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03834.hp2 HG03927.hp1 HG04204.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18964.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18978.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19009.hp2 NA19012.hp2 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19087.hp2 NA19089.hp2 NA19090.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0012	a0001c0001 a0001c0009 a0002c0002 others(4): Show a0001c0001 a0001c0009 a0002c0002 a0003c0003 a0005c0005 a0006c0006 a0012c0011	a0001c0001t0001 a0001c0001t0010 a0001c0001t0013 others(12): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0009t0001 a0002c0002t0006 a0003c0003t0001 a0003c0003t0005 a0003c0003t0011 a0003c0003t0012 a0005c0005t0001 a0006c0006t0001 a0012c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(72): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0010g0062 a0001c0001t0013g0074 a0001c0001t0013g0075 a0001c0001t0014g0049 a0001c0001t0016g0076 a0001c0001t0017g0084 a0001c0009t0001g0069 a0002c0002t0006g0015 a0002c0002t0006g0022 a0002c0002t0006g0114 a0002c0002t0006g0115 a0002c0002t0006g0116 a0003c0003t0001g0044 a0003c0003t0001g0045 a0003c0003t0001g0109 a0003c0003t0001g0205 a0003c0003t0005g0009 a0003c0003t0005g0046 a0003c0003t0005g0047 a0003c0003t0005g0048 a0003c0003t0005g0053 a0003c0003t0005g0054 a0003c0003t0005g0211 a0003c0003t0005g0212 a0003c0003t0005g0213 a0003c0003t0005g0214 a0003c0003t0005g0215 a0003c0003t0005g0216 a0003c0003t0005g0217 a0003c0003t0011g0110 a0003c0003t0011g0111 a0003c0003t0012g0107 a0003c0003t0012g0108 a0005c0005t0001g0004 a0005c0005t0001g0090 a0005c0005t0001g0091 a0006c0006t0001g0014 a0006c0006t0001g0077 a0012c0011t0001g0083	152	400	0.3800	-19	c.-19 others(38): Show c.-191-6698_-191-6680delGGTCAGTTGTTAGTTACAA	LCA5	ENSG00000135338.14	transcript	ENST00000369846.9	protein_coding	1/7			chr6	TogoVar
LCP2_chr5_170241233_170302777	170272592	ATTTTCTT others(12): Show ATTTTCTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0344 a0001c0002t0001g0344	1	384	0.0026	-19	c.324 others(36): Show c.324+1690_325-1676delAAAAAAAAAAAAAAGAAAA	LCP2	ENSG00000043462.13	transcript	ENST00000046794.10	protein_coding	6/20			chr5	TogoVar
LCP2_chr5_170241233_170302777	170290965	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02809.hp1 HG03195.hp1 others(2): Show HG01167.hp1 HG02809.hp1 HG03195.hp1 NA18522.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0006 a0001c0002t0007 others(1): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0007 a0001c0003t0002	a0001c0002t0001g0283 a0001c0002t0006g0321 a0001c0002t0007g0322 others(2): Show a0001c0002t0001g0283 a0001c0002t0006g0321 a0001c0002t0007g0322 a0001c0002t0007g0323 a0001c0003t0002g0324	5	384	0.0130	-19	c.141 others(36): Show c.141+2326_141+2344delCTTTCTTTCTTTCTTTCTT	LCP2	ENSG00000043462.13	transcript	ENST00000046794.10	protein_coding	2/20			chr5	TogoVar
LCP2_chr5_170241233_170302777	170290989	AAAGAAAG others(12): Show AAAGAAAGAAAGAGAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02055.hp2 HG01175.hp1 HG02055.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0011 a0001c0006 a0002c0011	a0001c0006t0001 a0002c0011t0001 a0001c0006t0001 a0002c0011t0001	a0001c0006t0001g0213 a0002c0011t0001g0212 a0001c0006t0001g0213 a0002c0011t0001g0212	2	384	0.0052	-19	c.141 others(36): Show c.141+2302_141+2320delCTTTCTCTCTTTCTTTCTT	LCP2	ENSG00000043462.13	transcript	ENST00000046794.10	protein_coding	2/20			chr5	TogoVar
LCT_chr2_135782850_135842184	135785409	ACCAACAG others(12): Show ACCAACAGTCATGAGAATGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0189 a0002c0002t0001g0189	1	366	0.0027	-19	c.28 others(30): Show c.2896_*2914delACATTCTCATGACTGTTGG	LCT	ENSG00000115850.10	transcript	ENST00000264162.7	protein_coding		2440		chr2	TogoVar
LDB1_chr10_102101489_102125368	102106541	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18971.hp2 NA18982.hp2 NA18984.hp2 others(2): Show NA18971.hp2 NA18982.hp2 NA18984.hp2 NA18986.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0027 a0001c0001t0015g0114 a0001c0001t0015g0179 a0001c0001t0015g0027 a0001c0001t0015g0114 a0001c0001t0015g0179	5	376	0.0133	-19	c.15 others(30): Show c.1533_*1551delTTTTTTTTTTTTTTTTTTT	LDB1	ENSG00000198728.11	transcript	ENST00000673968.1	protein_coding	11/11	1533		chr10	TogoVar
LDB2_chr4_16496541_16903645	16570462	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03225.hp1 HG03579.hp1 HG02258.hp2 HG03225.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0001t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0151 a0001c0001t0004g0062 a0001c0002t0001g0052 a0001c0001t0001g0151 a0001c0001t0004g0062 a0001c0002t0001g0052	3	162	0.0185	-19	c.615 others(38): Show c.615+15441_615+15459delTTTTTTTTTTTTTTTTTTT	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	5/7			chr4	TogoVar
LDB2_chr4_16496541_16903645	16649398	TGAGAGAG others(12): Show TGAGAGAGAGAGAGATGAGA	T T	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02300.hp2 homoSapiens_chm13v2.hp1 HG01258.hp1 HG02300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0103 a0001c0001t0001g0128 a0001c0001t0002g0093 a0001c0001t0001g0103 a0001c0001t0001g0128 a0001c0001t0002g0093	3	162	0.0185	-19	c.236 others(38): Show c.236-53542_236-53524delTCTCATCTCTCTCTCTCTC	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	2/7			chr4	TogoVar

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