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 limited to 10,000 hits. Refine your search for more specific results.

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
KLHL1_chr13_69695597_70113452	69721062	G G	GATATATA others(97): Show GATATATATATATATATATATATATATATATATATATATATATATATATA TACACAAATTCCTTGTAAGGGAGGTACATAGCTTTATATATATATATATA TATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0072 a0001c0001t0006g0072	1	182	0.0055	104	c.180 others(123): Show c.1803-1482_1803-1481insATATATATATATATATATATAAAGCT ATGTACCTCCCTTACAAGGAATTTGTGTATATATATATATATATATATAT ATATATATATATATATATATATATATAT	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	8/10			chr13	TogoVar
KLHL1_chr13_69695597_70113452	69721062	G G	GATATATA others(97): Show GATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATACAAATTCCTTGTAAGGGAGGTACATAGCTTTATATA TATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02735.hp2 HG04115.hp1 HG02258.hp2 HG02735.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0001 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0034 a0001c0001t0004g0006 a0001c0001t0007g0149 a0001c0001t0001g0034 a0001c0001t0004g0006 a0001c0001t0007g0149	3	182	0.0165	104	c.180 others(123): Show c.1803-1482_1803-1481insATATATATATAAAGCTATGTACCTCC CTTACAAGGAATTTGTATATATATATATATATATATATATATATATATAT ATATATATATATATATATATATATATAT	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	8/10			chr13	TogoVar
KLHL25_chr15_85754326_85799925	85757581	T T	TCCTCCTC others(97): Show TCCTCCTCCCTCCTCCCCCTCCCCCTCCTCCTCCCCCTCCTCCCCCTCCT CCTCCTCCCCTTCCTCCCCCCTTCCTCCCTCCCCTCCCCTCCTCCCTCCC CTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0052 a0002c0003t0006g0052	1	406	0.0025	104	c.34 others(115): Show c.3454_*3455insGGGAGGGGAGGGAGGAGGGGAGGGGAGGGAGGAA GGGGGGAGGAAGGGGAGGAGGAGGAGGGGGAGGAGGGGGAGGAGGAGGGG GAGGGGGAGGAGGGAGGAGG	KLHL25	ENSG00000183655.13	transcript	ENST00000337975.6	protein_coding		1744		chr15	TogoVar
KLHL25_chr15_85754326_85799925	85757581	T T	TCCTCCTC others(97): Show TCCTCCTCCTCCTCCCCCTCCCCCTCCTCCCCCTCCTCCTCCCCCTCCTC CCCCTCCTCCTCCTCCCCCTCCTCCCCCCTTCCTCCCCCTCCCCCCTCCC CTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03239.hp2 HG03492.hp2 others(5): Show HG03017.hp2 HG03239.hp2 HG03492.hp2 HG03688.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0002 a0001c0001t0002 a0001c0006t0002	a0001c0001t0002g0001 a0001c0001t0002g0020 a0001c0001t0002g0100 others(5): Show a0001c0001t0002g0001 a0001c0001t0002g0020 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0119 a0001c0001t0002g0141 a0001c0006t0002g0122 a0001c0006t0002g0143	8	406	0.0197	104	c.34 others(115): Show c.3454_*3455insGGGAGGGGAGGGGGGAGGGGGAGGAAGGGGGGAG GAGGGGGAGGAGGAGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAGGG GGAGGGGGAGGAGGAGGAGG	KLHL25	ENSG00000183655.13	transcript	ENST00000337975.6	protein_coding		1744		chr15	TogoVar
KLHL25_chr15_85754326_85799925	85757581	T T	TCCTCCTC others(97): Show TCCTCCTCCTCCTCCCCCTCCCCCTCCTCCTCCCCCTCCTCCCCCTCCCC CTCCTCCCCCCTTCCTCCCCCTCCCCCCTCCCCTCCCCCTCCTCCCTCCC CTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02258.hp1 HG02258.hp2 others(6): Show HG01243.hp1 HG02258.hp1 HG02258.hp2 HG02886.hp1 HG02970.hp1 HG02976.hp1 HG03139.hp2 HG03486.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0016 a0001c0001t0021 others(1): Show a0001c0001t0011 a0001c0001t0016 a0001c0001t0021 a0001c0001t0030	a0001c0001t0011g0007 a0001c0001t0011g0163 a0001c0001t0011g0164 others(5): Show a0001c0001t0011g0007 a0001c0001t0011g0163 a0001c0001t0011g0164 a0001c0001t0011g0166 a0001c0001t0016g0167 a0001c0001t0016g0168 a0001c0001t0021g0045 a0001c0001t0030g0165	9	406	0.0222	104	c.34 others(115): Show c.3454_*3455insGGGAGGGGAGGGAGGAGGGGGAGGGGAGGGGGGA GGGGGAGGAAGGGGGGAGGAGGGGGAGGGGGAGGAGGGGGAGGAGGAGGG GGAGGGGGAGGAGGAGGAGG	KLHL25	ENSG00000183655.13	transcript	ENST00000337975.6	protein_coding		1744		chr15	TogoVar
KLHL25_chr15_85754326_85799925	85757581	T T	TCCTCCTC others(97): Show TCCTCCTCCTCCTCCCCCTCCCCCTCCTCCTCCCCCTCCTCCTCCTCCCC CTCCTCCCCCCTTCCTCCCCCTCCCCCCTCCCCTCCCCCTCCTCCCTCCC CTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02809.hp2 HG02896.hp1 others(3): Show HG02630.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp2 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0043 a0001c0001t0010g0044 a0001c0001t0010g0048 others(3): Show a0001c0001t0010g0043 a0001c0001t0010g0044 a0001c0001t0010g0048 a0001c0001t0010g0049 a0001c0001t0010g0050 a0001c0001t0010g0054	6	406	0.0148	104	c.34 others(115): Show c.3454_*3455insGGGAGGGGAGGGAGGAGGGGGAGGGGAGGGGGGA GGGGGAGGAAGGGGGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGG GGAGGGGGAGGAGGAGGAGG	KLHL25	ENSG00000183655.13	transcript	ENST00000337975.6	protein_coding		1744		chr15	TogoVar
KPNA7_chr7_99168572_99213115	99181014	T T	TCTCCCCG others(97): Show TCTCCCCGTCTGTGTCTCTCTCTCCCCGTCTGTGTCTCTCTCTCTCCCCC CGTCTGTCTCTCTCTCTCCCCATCTCTCTCTCCCCGTCTGTGTCTCTCTC TCCCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp1 HG03041.hp1 others(2): Show HG02109.hp2 HG02615.hp1 HG03041.hp1 HG03516.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0096 others(2): Show a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098	5	334	0.0150	104	c.131 others(121): Show c.1317+868_1317+869insGGGGAGAGAGAGACACAGACGGGGAGAG AGAGATGGGGAGAGAGAGAGACAGACGGGGGGAGAGAGAGAGACACAGAC GGGGAGAGAGAGACACAGACGGGGAG	KPNA7	ENSG00000185467.8	transcript	ENST00000327442.7	protein_coding	9/10			chr7	TogoVar
LCP2_chr5_170241233_170302777	170278448	G G	GGGGGGAT others(97): Show GGGGGGATGGGAGTGCAGGGGTGGGGGGGCTGGTGAGGGGGATGGGAGTG CAGGGGTGGGGGGGCTGGTGAGGGGGATGGGAGTGCAGGGGTGGGGGGCT GGTGA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0243 a0001c0003t0008g0243	1	384	0.0026	104	c.189 others(121): Show c.189-2589_189-2588insTCACCAGCCCCCCACCCCTGCACTCCCA TCCCCCTCACCAGCCCCCCCACCCCTGCACTCCCATCCCCCTCACCAGCC CCCCCACCCCTGCACTCCCATCCCCC	LCP2	ENSG00000043462.13	transcript	ENST00000046794.10	protein_coding	3/20			chr5	TogoVar
LDLRAD4_chr18_13213760_13657751	13288610	A A	AGTAGCAG others(97): Show AGTAGCAGCCCCGCAGACCGTGGTCACTCTGCAAGGTGAGTCACGGGGCC ACGGTAGCAGCCCCACAGACCGTGGTCACTCTGCAAGGTGAGTCACGGGG CCATG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00597.hp1 others(43): Show HG00408.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00642.hp1 HG01074.hp1 HG01192.hp1 HG01261.hp1 HG01952.hp1 HG01981.hp1 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02257.hp1 HG02486.hp1 HG02486.hp2 HG02683.hp1 HG02683.hp2 HG02896.hp2 HG02976.hp1 HG03225.hp1 HG03453.hp1 HG03704.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18959.hp1 NA18964.hp2 NA18966.hp2 NA18971.hp2 NA18977.hp1 NA18980.hp2 NA18984.hp1 NA18990.hp1 NA19004.hp2 NA19010.hp1 NA19010.hp2 NA19057.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0021 a0001c0001t0036 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0047 a0001c0001t0049 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0067 a0001c0001t0069	a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0026 others(43): Show a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0068 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0124 a0001c0001t0001g0134 a0001c0001t0001g0146 a0001c0001t0001g0167 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0090 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0024 a0001c0001t0003g0045 a0001c0001t0003g0064 a0001c0001t0003g0066 a0001c0001t0003g0121 a0001c0001t0007g0020 a0001c0001t0009g0007 a0001c0001t0009g0031 a0001c0001t0012g0040 a0001c0001t0012g0079 a0001c0001t0013g0005 a0001c0001t0016g0070 a0001c0001t0021g0035 a0001c0001t0036g0129 a0001c0001t0038g0012 a0001c0001t0040g0127 a0001c0001t0041g0029 a0001c0001t0042g0120 a0001c0001t0044g0010 a0001c0001t0047g0114 a0001c0001t0049g0067 a0001c0001t0056g0059 a0001c0001t0057g0038 a0001c0001t0058g0063 a0001c0001t0067g0173 a0001c0001t0069g0172	46	178	0.2584	104	c.-38 others(125): Show c.-383+10524_-383+10525insTGGTAGCAGCCCCGCAGACCGTGG TCACTCTGCAAGGTGAGTCACGGGGCCACGGTAGCAGCCCCACAGACCGT GGTCACTCTGCAAGGTGAGTCACGGGGCCA	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13288653	C C	CGGGGCCA others(97): Show CGGGGCCACGGTAGCAGCCCCACAGACCGTGGTCACTCTGCAAGGTGAGT CACGGGGCCATGGTAGCAGCCCCGCAGACCGTGGTCACTCTGCAAGGTGA GTCAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0177 a0001c0001t0005g0177	1	178	0.0056	104	c.-38 others(125): Show c.-383+10524_-383+10525insTGGTAGCAGCCCCGCAGACCGTGG TCACTCTGCAAGGTGAGTCATGGGGCCACGGTAGCAGCCCCACAGACCGT GGTCACTCTGCAAGGTGAGTCACGGGGCCA	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13288664	T T	TAGCAGCC others(97): Show TAGCAGCCCCACAGACCGTGGTCACTCTGCAAGGTGAGTCACGGGGCCAT GGTAGCAGCCCTGCAGACCGTGGTCACTCTGCAAGGTGAGTCACGGGGCC ACGGC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0100	1	178	0.0056	104	c.-38 others(125): Show c.-383+10524_-383+10525insTGGTAGCAGCCCTGCAGACCGTGG TCACTCTGCAAGGTGAGTCACGGGGCCACGGCAGCAGCCCCACAGACCGT GGTCACTCTGCAAGGTGAGTCACGGGGCCA	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LEMD3_chr12_65164583_65253355	65194817	C C	CTTTAGAT others(97): Show CTTTAGATTATAATTTATAAATTATAATTTAGATTATAATTTATAAATTA TAATTTAGATTATAATTTATAAATTATAATTTAGATTATAATTTATAAAT TATAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00642.hp2 others(31): Show HG00280.hp2 HG00423.hp1 HG00642.hp2 HG01099.hp2 HG01192.hp2 HG01934.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02622.hp2 HG02698.hp1 HG02735.hp2 HG02965.hp2 HG03017.hp1 HG03225.hp2 HG03490.hp2 HG03704.hp1 HG03834.hp2 NA18941.hp1 NA18942.hp2 NA18968.hp2 NA18974.hp2 NA18981.hp1 NA18993.hp1 NA18997.hp1 NA19001.hp1 NA19005.hp1 NA19009.hp2 NA19057.hp2 NA19068.hp1 NA19077.hp2 NA19085.hp2 NA19091.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0012 others(1): Show a0001c0001 a0001c0002 a0002c0012 a0003c0011	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0002c0012t0001 a0003c0011t0001	a0001c0001t0001g0009 a0001c0001t0001g0060 a0001c0001t0001g0061 others(25): Show a0001c0001t0001g0009 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0126 a0001c0001t0004g0336 a0001c0002t0001g0005 a0001c0002t0001g0017 a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0310 a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0002t0001g0314 a0001c0002t0001g0315 a0002c0012t0001g0304 a0003c0011t0001g0285	34	398	0.0854	104	c.152 others(125): Show c.1523-16037_1523-16036insTTATAATTTAGATTATAATTTATA AATTATAATTTAGATTATAATTTATAAATTATAATTTAGATTATAATTTA TAAATTATAATTTAGATTATAATTTATAAA	LEMD3	ENSG00000174106.3	transcript	ENST00000308330.3	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
LEMD3_chr12_65164583_65253355	65194817	C C	CTTTAGAT others(97): Show CTTTAGATTATAATTTATAAATTATACTTTAGATTATAATTTATAAATTA TAATTTAGATTATAATTTATAAATTATAATTTAGATTATAATTTATAAAT TATAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00639.hp1 others(81): Show HG00438.hp2 HG00558.hp1 HG00639.hp1 HG00642.hp1 HG00741.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp2 HG02155.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02647.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03710.hp2 HG03927.hp1 HG04115.hp2 HG04228.hp2 NA18939.hp1 NA18941.hp2 NA18944.hp1 NA18946.hp1 NA18957.hp1 NA18961.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18972.hp1 NA18978.hp1 NA18981.hp2 NA18987.hp1 NA18997.hp2 NA19000.hp2 NA19001.hp2 NA19003.hp1 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19057.hp1 NA19058.hp2 NA19063.hp2 NA19072.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0013 a0007c0006 a0001c0001 a0001c0013 a0007c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0013t0002 a0007c0006t0006	a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0002g0001 others(73): Show a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0070 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0201 a0001c0001t0002g0210 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0322 a0001c0001t0004g0323 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0326 a0001c0001t0004g0327 a0001c0001t0004g0328 a0001c0001t0004g0329 a0001c0001t0004g0330 a0001c0001t0004g0331 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0004g0338 a0001c0001t0004g0339 a0001c0001t0004g0340 a0001c0001t0004g0341 a0001c0001t0004g0342 a0001c0001t0004g0344 a0001c0001t0004g0345 a0001c0001t0004g0346 a0001c0001t0004g0347 a0001c0001t0006g0089 a0001c0001t0006g0091 a0001c0001t0006g0093 a0001c0001t0006g0203 a0001c0001t0011g0278 a0001c0001t0012g0120 a0001c0001t0013g0082 a0001c0001t0014g0337 a0001c0001t0015g0083 a0001c0013t0002g0110 a0007c0006t0006g0202	84	398	0.2111	104	c.152 others(125): Show c.1523-16084_1523-16083insCTTTAGATTATAATTTATAAATTA TAATTTAGATTATAATTTATAAATTATAATTTAGATTATAATTTATAAAT TATAATTTAGATTATAATTTATAAATTATA	LEMD3	ENSG00000174106.3	transcript	ENST00000308330.3	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
LEMD3_chr12_65164583_65253355	65194817	C C	CTTTAGAT others(97): Show CTTTAGATTATAATTTATAAATTATACTTTAGATTATAATTTATAAATTA TAATTTAGATTATAATTTATAAATTATACTTTAGATTATAATTTATAAAT TATAA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	398	0.0025	104	c.152 others(125): Show c.1523-16084_1523-16083insCTTTAGATTATAATTTATAAATTA TAATTTAGATTATAATTTATAAATTATACTTTAGATTATAATTTATAAAT TATAATTTAGATTATAATTTATAAATTATA	LEMD3	ENSG00000174106.3	transcript	ENST00000308330.3	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
LIN54_chr4_82919603_83015823	83001895	G G	GGAAAGGA others(97): Show GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGACAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAAGGAAAGGAAAGGAAAGGAAAGGAA AGGAA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0131	1	304	0.0033	104	c.-33 others(121): Show c.-33+8588_-33+8589insTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTGTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTC	LIN54	ENSG00000189308.11	transcript	ENST00000340417.8	protein_coding	1/12			chr4	TogoVar
LMCD1_chr3_8496823_8579668	8502362	T T	TTATATAT others(97): Show TTATATATATTATATATAATATATATTATATATAAAATATATAATATATA TTATATATAATATATATAATATATATTATATATAAAATATATATAATATA TATTA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02622.hp1 HG02683.hp1 others(14): Show HG00423.hp1 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02895.hp2 HG03017.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp1 HG03834.hp2 NA18939.hp1 NA18972.hp2 NA18981.hp1 NA18984.hp2 NA19005.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0002t0001 a0001c0002t0003 a0001c0002t0011 a0001c0002t0019 a0001c0002t0054 a0001c0002t0056	a0001c0001t0001g0209 a0001c0001t0001g0217 a0001c0001t0001g0306 others(14): Show a0001c0001t0001g0209 a0001c0001t0001g0217 a0001c0001t0001g0306 a0001c0001t0002g0214 a0001c0001t0003g0218 a0001c0001t0003g0221 a0001c0001t0004g0215 a0001c0001t0015g0222 a0001c0001t0015g0223 a0001c0002t0001g0216 a0001c0002t0003g0212 a0001c0002t0011g0208 a0001c0002t0011g0210 a0001c0002t0011g0211 a0001c0002t0019g0220 a0001c0002t0054g0213 a0001c0002t0056g0219	17	314	0.0541	104	c.42+ others(117): Show c.42+388_42+389insTATTATATATAATATATATTATATATAAAATA TATAATATATATTATATATAATATATATAATATATATTATATATAAAATA TATATAATATATATTATATATA	LMCD1	ENSG00000071282.12	transcript	ENST00000157600.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMLN_chr3_197955217_198048720	198004609	A A	ACATCTAT others(97): Show ACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTT TGCCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAG TTTGC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0010 a0002c0002t0016g0010	1	258	0.0039	104	c.131 others(123): Show c.1319+1535_1319+1536insCCATCTATCTATATATCATCTATACA GATACATATCATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATA CAGATACATATCATACGTAGTAAGTTTG	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMLN_chr3_197955217_198048720	198005094	A A	ATCTATAC others(97): Show ATCTATACAGATACATATCATACGTAGTAAGTTTGACATCTATCTATATA TCATCTATACAGATACATATCATACGTAGTAAGTTTGACATCTATCTATA TATCG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0133 a0001c0001t0027g0133	1	258	0.0039	104	c.131 others(123): Show c.1319+2072_1319+2073insGTCTATACAGATACATATCATACGTA GTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACG TAGTAAGTTTGACATCTATCTATATATC	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMNB2_chr19_2423166_2461959	2433668	C C	CCCCCATC others(97): Show CCCCCATCAGCTGGGTCACCCCGTTACCCCCATGCCCCGGTCATTCCGGT CACCTTGTCCCCTGCCTCGCATTGGCCGGCAGCCCCGTCACCCTGACCCT GGTCA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG00738.hp1 others(43): Show HG00323.hp1 HG00642.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp2 HG01175.hp1 HG01358.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG02109.hp2 HG02155.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02486.hp1 HG02622.hp2 HG02723.hp2 HG02809.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG06807.hp2 NA18522.hp2 NA18948.hp1 NA18962.hp1 NA18969.hp1 NA19010.hp2 NA19240.hp1 NA19240.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0018 a0001c0001t0019	a0001c0001t0002g0120 a0001c0001t0002g0131 a0001c0001t0003g0007 others(36): Show a0001c0001t0002g0120 a0001c0001t0002g0131 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0003g0046 a0001c0001t0003g0099 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0136 a0001c0001t0003g0242 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0272 a0001c0001t0007g0018 a0001c0001t0007g0137 a0001c0001t0018g0108 a0001c0001t0019g0135	46	356	0.1292	104	c.148 others(120): Show c.1482+54_1482+157dupTGACCAGGGTCAGGGTGACGGGGCTGCCG GCCAATGCGAGGCAGGGGACAAGGTGACCGGAATGACCGGGGCATGGGGG TAACGGGGTGACCCAGCTGATGGGG	LMNB2	ENSG00000176619.13	transcript	ENST00000325327.4	protein_coding	8/11			chr19	TogoVar
LMNB2_chr19_2423166_2461959	2433668	C C	CCCCCATC others(97): Show CCCCCATCAGCTGGGTCACCCCGTTACCCCCATGCCCCGGTCTTTCCGGT CACCTTGTCCCCTGCCTCGCATTGGCCGGCAGCCCCGTCACCCTGACCCT GGTCA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	356	0.0028	104	c.148 others(121): Show c.1482+157_1482+158insTGACCAGGGTCAGGGTGACGGGGCTGCC GGCCAATGCGAGGCAGGGGACAAGGTGACCGGAAAGACCGGGGCATGGGG GTAACGGGGTGACCCAGCTGATGGGG	LMNB2	ENSG00000176619.13	transcript	ENST00000325327.4	protein_coding	8/11			chr19	TogoVar
LMNB2_chr19_2423166_2461959	2433753	C C	CGTCACCC others(97): Show CGTCACCCTGACCCTGGTCACCCCATCAGCTGGGTCACCCCGTTACCCCC ATGCCCCGGTCATTCCGGTCACCTTGTCCCCTGCCTCGCATTGGCCGGCA GCCCT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0128 a0001c0001t0003g0128	1	356	0.0028	104	c.148 others(119): Show c.1482+72_1482+73insAGGGCTGCCGGCCAATGCGAGGCAGGGGAC AAGGTGACCGGAATGACCGGGGCATGGGGGTAACGGGGTGACCCAGCTGA TGGGGTGACCAGGGTCAGGGTGAC	LMNB2	ENSG00000176619.13	transcript	ENST00000325327.4	protein_coding	8/11			chr19	TogoVar
LMO7_chr13_75631330_75864866	75776166	T T	TATATATA others(97): Show TATATATATATATATATATATCGGATATATATATATATATATATATATCG GATATATATATATATATATATATATCGGATATATATATATATATATATAT ATCGG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0038 a0002c0011t0002g0038	1	272	0.0037	104	c.317 others(123): Show c.317+15148_317+15149insCGGATATATATATATATATATATATA TCGGATATATATATATATATATATATATCGGATATATATATATATATATA TATATCGGATATATATATATATATATAT	LMO7	ENSG00000136153.20	transcript	ENST00000377534.8	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr13	TogoVar
LOC114841035_chr11_64236095_64249132	64237127	G G	GAGAGAGA others(97): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGATATATATATATATATATATATATATATATATATATATATATA TATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	104	c.-41 others(115): Show c.-4153_-4152insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATATATATATAT ATATATATATATATATATAT	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		3967		chr11	TogoVar
LOC114841035_chr11_64236095_64249132	64237127	G G	GAGAGAGA others(97): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGATATATATATATATATATATATATATATATATATATATATATATATA TATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	330	0.0030	104	c.-41 others(115): Show c.-4153_-4152insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGATATATATATATATATATATATATATATATAT ATATATATATATATATATAT	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		3967		chr11	TogoVar
LOC127933115_chrX_23778278_23788367	23780126	C C	CATATATA others(97): Show CATATATATGTGTATATATATGTGTATATATACACATATATATGTGTATA TATATGTGTATATATACACATATATATGTGTATATATATGTATATATATA TACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	334	0.0030	104	c.-31 others(115): Show c.-3152_-3151insATATATATGTGTATATATATGTGTATATATACAC ATATATATGTGTATATATATGTGTATATATACACATATATATGTGTATAT ATATGTATATATATATACCT	LOC127933115	ENSG00000288706.1	transcript	ENST00000683890.1	protein_coding		3151		chrX	TogoVar
LPP_chr3_188149157_188895671	188203511	A A	ATTTAAAT others(97): Show ATTTAAATATATATATATATTTAAATATATATATATATTTTTAAATATAT ATAAATATATATATTTTTAAATATATATAAATATATATTTAAATATATAT ATATT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	76	0.0132	104	c.-18 others(125): Show c.-189-21880_-189-21879insTATATTTAAATATATATATATATT TTTAAATATATATAAATATATATATTTTTAAATATATATAAATATATATT TAAATATATATATATTTTTAAATATATATA	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRP5_chr11_68307591_68454275	68390600	T T	TGCTGTGG others(97): Show TGCTGTGGTCGGGTTTCAGTGGCCTCGTCCCGTGGACGCAGCCTCGCCCT GCCGCTGTGGTCGGGTTTCAGTGGCCTCGTCCCGTGGACGCAGCCTCGCC CTGCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0095 a0001c0027t0001g0095	1	212	0.0047	104	c.158 others(121): Show c.1584+578_1584+681dupCGTGGACGCAGCCTCGCCCTGCCGCTGT GGTCGGGTTTCAGTGGCCTCGTCCCGTGGACGCAGCCTCGCCCTGCCGCT GTGGTCGGGTTTCAGTGGCCTCGTCC	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LRP8_chr1_53237364_53333070	53283422	C C	CACTTACT others(97): Show CACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCCA CTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCCGGGC CACTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19030.hp1 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0019 a0001c0004t0031 a0001c0004t0019 a0001c0004t0031	a0001c0004t0019g0022 a0001c0004t0031g0282 a0001c0004t0019g0022 a0001c0004t0031g0282	2	296	0.0068	104	c.368 others(121): Show c.368-2811_368-2708dupAAGTGGCCCGGGTATGTAGTAAGTAAGT AAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAA GTGGCCCGGGTATGTAGTAAGTAAGT	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283422	C C	CACTTACT others(97): Show CACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCCA CTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGC CACTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01123.hp1 HG01993.hp2 others(14): Show HG01099.hp2 HG01123.hp1 HG01993.hp2 HG02004.hp2 HG02074.hp1 HG02083.hp1 HG02300.hp1 HG02738.hp1 NA18939.hp1 NA18983.hp1 NA18988.hp1 NA18990.hp1 NA18993.hp2 NA19010.hp1 NA19080.hp1 NA19085.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0002c0002 a0002c0009	a0001c0001t0001 a0001c0004t0003 a0001c0006t0013 others(4): Show a0001c0001t0001 a0001c0004t0003 a0001c0006t0013 a0001c0006t0018 a0002c0002t0001 a0002c0009t0018 a0002c0009t0026	a0001c0001t0001g0180 a0001c0001t0001g0189 a0001c0001t0001g0191 others(14): Show a0001c0001t0001g0180 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0004t0003g0192 a0001c0006t0013g0205 a0001c0006t0013g0206 a0001c0006t0013g0208 a0001c0006t0018g0266 a0002c0002t0001g0035 a0002c0002t0001g0045 a0002c0002t0001g0048 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0125 a0002c0009t0018g0135 a0002c0009t0026g0112	17	296	0.0574	104	c.368 others(121): Show c.368-2708_368-2707insAAGTGGCCCGGGTATGTAGTAAGTAAGT GGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAA GTGGCCCGGGTATGTAGTAAGTAAGT	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283601	T T	TTACTTAC others(97): Show TTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGG CCACG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0250 a0001c0008t0001g0250	1	296	0.0034	104	c.368 others(121): Show c.368-2887_368-2886insCGTGGCCCGGGTATGTAGTAAGTAAGTG GCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAG TGGCCCGGGTATGTAGTAAGTAAGTA	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC24_chr8_144517388_144532033	144531191	A A	AGAGCAGC others(97): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	398	0.0025	104	c.-42 others(115): Show c.-4292_-4291insGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCC ACTCCCCACCTGCTGCTCGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGC CCACTCCCCACCTGCTGCTC	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4159		chr8	TogoVar
LRRC24_chr8_144517388_144532033	144531192	G G	GAGCAGCA others(97): Show GAGCAGCAGGTGGGATGTGGACTGGACACAGCAGGCACAGCAGAAGGGCA GCGAGCAGCAGGTGGGGAATGGGCTAGACATAGCAGGCACGGCAGAAGGG CAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0007 a0001c0005t0001g0007	1	398	0.0025	104	c.-42 others(115): Show c.-4293_-4292insTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCC CATTCCCCACCTGCTGCTCGCTGCCCTTCTGCTGTGCCTGCTGTGTCCAG TCCACATCCCACCTGCTGCT	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4160		chr8	TogoVar
LRRC24_chr8_144517388_144532033	144531192	G G	GAGCAGCA others(97): Show GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGGCA GCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG03139.hp1 HG03516.hp2 others(2): Show HG00733.hp1 HG03139.hp1 HG03516.hp2 HG03579.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	5	398	0.0126	104	c.-42 others(115): Show c.-4293_-4292insTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTAG CCCACTCCCCACCTGCTGCT	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4160		chr8	TogoVar
LRRC24_chr8_144517388_144532033	144531192	G G	GAGCAGCA others(97): Show GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA GCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGG CAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG03540.hp1 HG02818.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0002 a0001c0001t0001g0016	2	398	0.0050	104	c.-42 others(115): Show c.-4293_-4292insTGCTGCCTTTCTGCCGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAG CCCACTCCCCACCTGCTGCT	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4160		chr8	TogoVar
LRRC24_chr8_144517388_144532033	144531192	G G	GAGCAGCA others(97): Show GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA GCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 NA18612.hp2 NA19062.hp1 HG03710.hp2 NA18612.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	398	0.0075	104	c.-42 others(115): Show c.-4293_-4292insTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAG CCCACTCCCCACCTGCTGCT	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4160		chr8	TogoVar
LRRC24_chr8_144517388_144532033	144531241	A A	AGCGAGCA others(97): Show AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCACAGGGCAGCGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAAGCAC AGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	398	0.0025	104	c.-43 others(115): Show c.-4342_-4341insCTGCTGTGCTTGCTGTGTCCAGTCCACACCCCAC CTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCC ACTCCCCACCTGCTGCTCGC	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4209		chr8	TogoVar
LRRC24_chr8_144517388_144532033	144531242	C C	CAGGGCAG others(97): Show CAGGGCAGAGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGAAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACG GCAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA19088.hp1 NA18975.hp2 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	2	398	0.0050	104	c.-43 others(115): Show c.-4343_-4342insTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTCGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCC CACCTGCTGCTCTCTGCCCT	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4210		chr8	TogoVar
LRRC24_chr8_144517388_144532033	144531242	C C	CAGGGCAG others(97): Show CAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGGC AGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACG GCAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	398	0.0025	104	c.-43 others(115): Show c.-4343_-4342insTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTGTGTCCAGTCCACACCC CACCTGCTGCTCCCTGCCCT	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4210		chr8	TogoVar
LRRC27_chr10_132327193_132386508	132364368	T T	TACACCCA others(97): Show TACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACGCCCACA ATTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCA CACTC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	290	0.0035	104	c.129 others(123): Show c.1290-1014_1290-1013insGCCCACAATTACACCCACCCACACTT ACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACCCTTACATCTACCTCCAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364393	C C	CCTTACAT others(97): Show CCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCC ACCCTTACATCTACCTCCACACCCGCGCTTACACCCACCCACACTTACAC CTACG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0014 a0002c0004t0010g0014	1	290	0.0035	104	c.129 others(123): Show c.1290-1010_1290-1009insACACTCACACCCACCCACACTTACAC CCACCCTTACATCTACCTCCACACCCGCGCTTACACCCACCCACACTTAC ACCTACGCTTACATCTACCTCCACACCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364393	C C	CCTTACAT others(97): Show CCTTACATCTACCTCCACGCCCACAATTACACCCACCCACACTTACACCC ACCCTTACATCTACCTCCACACCCGCGCTTACACCCACCCACACTTACAC CTACG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0022 a0002c0004t0022	a0002c0004t0022g0012 a0002c0004t0022g0012	1	290	0.0035	104	c.129 others(123): Show c.1290-1014_1290-1013insGCCCACAATTACACCCACCCACACTT ACACCCACCCTTACATCTACCTCCACACCCGCGCTTACACCCACCCACAC TTACACCTACGCTTACATCTACCTCCAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC47_chr1_3773559_3801498	3797681	T T	TTAATTTT others(97): Show TTAATTTTTATATTAACCGTGTTAATATAATTTTTATATTAACCGTGTTA ATATAATTTTTATATTAACCGTGTTAATATAATTTTTATATTAACCGTGT TAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01192.hp2 HG02809.hp2 others(4): Show HG01168.hp1 HG01192.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG03195.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0007 a0001c0001t0003 a0001c0004t0007	a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0167 others(3): Show a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0167 a0001c0001t0003g0170 a0001c0004t0007g0173 a0001c0004t0007g0177	7	412	0.0170	104	c.-12 others(115): Show c.-1206_-1205insTATTAACACGGTTAATATAAAAATTATATTAACA CGGTTAATATAAAAATTATATTAACACGGTTAATATAAAAATTATATTAA CACGGTTAATATAAAAATTA	LRRC47	ENSG00000130764.10	transcript	ENST00000378251.3	protein_coding		1184		chr1	TogoVar
LRRC4C_chr11_40109209_41464652	40696747	T T	TGTATATA others(97): Show TGTATATATATATATATATATATATATATATATATATATATATCTGAGTA TATATATATATATATATATATCTGAGTATATATATATATATATATATATA TCTGA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	48	0.0208	104	c.-40 others(125): Show c.-406-48470_-406-48469insTCAGATATATATATATATATATAT ATATACTCAGATATATATATATATATATATATACTCAGATATATATATAT ATATATATATATATATATATATATATATAC	LRRC4C	ENSG00000148948.8	transcript	ENST00000528697.6	protein_coding	2/6			chr11	TogoVar
LRRK1_chr15_100914357_101083257	100962819	A A	ACACATAT others(97): Show ACACATATATATATACATATATATATATACATATATATATATACATATAT ATATATATACATATATATATATACATATATATATATATATATTTTTTTTT TTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0231 a0001c0050t0231	a0001c0050t0231g0123 a0001c0050t0231g0123	1	338	0.0030	104	c.98- others(121): Show c.98-10985_98-10984insCACATATATATATACATATATATATATA CATATATATATATACATATATATATATATACATATATATATATACATATA TATATATATATATTTTTTTTTTTTTT	LRRK1	ENSG00000154237.13	transcript	ENST00000388948.8	protein_coding	2/33			chr15	TogoVar
LUC7L_chr16_183990_234449	186115	C C	CGGGAGGA others(97): Show CGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGAACAGCGAC ACGGGGAACAGCGACACGGGAGGAACAGCGACACGGGAGGAACAGCGACA CGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	350	0.0029	104	c.30 others(115): Show c.3082_*3083insTCCCGTGTCGCTGTTCCTCCCGTGTCGCTGTTCC TCCCGTGTCGCTGTTCCCCGTGTCGCTGTTCCTCCCGTGTCGCTGTTCCC CCCGTGTCGCTGTTCCTCCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2874		chr16	TogoVar
LUC7L_chr16_183990_234449	186122	A A	AACAGCGA others(97): Show AACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GGACAGCGACACGGGGGAGGAACAGCGACACGGGGGGGACAGCGACACGG GGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	350	0.0029	104	c.30 others(115): Show c.3075_*3076insCCCCCCCGTGTCGCTGTCCCCCCCGTGTCGCTGT TCCTCCCCCGTGTCGCTGTCCCCCCCGTGTCGCTGTTCCCCCCGTGTCGC TGTTCCCTCCGTGTCGCTGT	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2867		chr16	TogoVar
LUC7L_chr16_183990_234449	186713	G G	GGGGGACA others(97): Show GGGGGACAGCGACACGGGGGGGACAGCGACACGGGGGGGACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	350	0.0029	104	c.24 others(115): Show c.2484_*2485insTCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTC CCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTCCCCCCCGTGTCGCTGTC CCCCCCGTGTCGCTGTCCCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2276		chr16	TogoVar
LUC7L_chr16_183990_234449	186863	C C	CGGGGAGG others(97): Show CGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGGACAGCGA CACGGGGGGGACAGCGACACGGGGGGGACAGCGACACGGGGGGGACAGCG ACACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	350	0.0029	104	c.23 others(115): Show c.2334_*2335insCGTGTCGCTGTCCCCCCCGTGTCGCTGTCCCCCC CGTGTCGCTGTCCCCCCCGTGTCGCTGTCCCCCCCGTGTCGCTGTTCCCT CCGTGTCGCTGTTCCTCCCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2126		chr16	TogoVar
LUC7L_chr16_183990_234449	187159	A A	AACAGCGA others(97): Show AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GGACAGCGACACGGGGGAGGAACAGCGACACGGGGGGGACAGCGACACGG GGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	350	0.0029	104	c.20 others(115): Show c.2038_*2039insCCCCCCCGTGTCGCTGTCCCCCCCGTGTCGCTGT TCCTCCCCCGTGTCGCTGTCCCCCCCGTGTCGCTGTTCCCCCCGTGTCGC TGTTCCCCCCGTGTCGCTGT	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1830		chr16	TogoVar
LUZP2_chr11_24492053_25087638	24601880	G G	GTATATAT others(97): Show GTATATATGTATATATATGTATATATGTATATATGTATATATATGTATAT ATGTATATATGTATATATGTATATATATGTATATATGTATATATGTATAT ATGTA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp2 HG02258.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0004 a0001c0001t0005 a0001c0003t0004	a0001c0001t0005g0030 a0001c0003t0004g0055 a0001c0001t0005g0030 a0001c0003t0004g0055	2	116	0.0172	104	c.62+ others(123): Show c.62+104590_62+104591insATGTATATATGTATATATGTATATAT ATGTATATATGTATATATGTATATATGTATATATATGTATATATGTATAT ATGTATATATGTATATATATGTATATAT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar

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Search Results (Total: 10000 hits)