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
KRTAP2-2_chr17_41049498_41060230	41051006	A A	ATATATAT others(21): Show ATATATATAGTAAAATATATATAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01258.hp2 NA18946.hp2 HG00544.hp1 HG01258.hp2 NA18946.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0000 a0002c0003t0001g0000 a0001c0002t0001g0000 a0002c0003t0001g0000	3	411	0.0073	28	c.38 others(39): Show c.3833_*3834insATATATTATATATATTTTACTATATATA	KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding		3491		chr17	TogoVar
KRTAP2-2_chr17_41049498_41060230	41051090	T T	TTATATAT others(21): Show TTATATATAGTAAAATATATAATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	411	0.0024	28	c.37 others(39): Show c.3749_*3750insTAATATATTATATATTTTACTATATATA	KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding		3407		chr17	TogoVar
KRTAP3-1_chr17_41003521_41014128	41007665	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG04204.hp1 HG03927.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	439	0.0046	28	c.11 others(39): Show c.1112_*1113insTATATATATATATATATATATATATATA	KRTAP3-1	ENSG00000212901.4	transcript	ENST00000391588.3	protein_coding		855		chr17	TogoVar
KRTAP5-1_chr11_1579342_1590283	1583879	G G	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00597.hp1 others(21): Show HG00099.hp2 HG00323.hp2 HG00597.hp1 HG01106.hp1 HG01106.hp2 HG01243.hp2 HG01258.hp1 HG01261.hp1 HG01891.hp2 HG01993.hp2 HG02004.hp1 HG02129.hp2 HG02293.hp1 HG03239.hp2 HG03516.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18978.hp1 NA18989.hp2 NA19002.hp2 NA19081.hp1 NA19083.hp1 NA19090.hp1	a0002 a0003 a0010 a0002 a0003 a0010	a0002c0002 a0003c0003 a0010c0017 a0002c0002 a0003c0003 a0010c0017	a0002c0002t0001 a0003c0003t0001 a0010c0017t0001 a0002c0002t0001 a0003c0003t0001 a0010c0017t0001	a0002c0002t0001g0000 a0003c0003t0001g0000 a0010c0017t0001g0000 a0002c0002t0001g0000 a0003c0003t0001g0000 a0010c0017t0001g0000	24	429	0.0559	28	c.53 others(37): Show c.533_*534insACACACACACACACACACACACACACAC	KRTAP5-1	ENSG00000205869.2	transcript	ENST00000382171.2	protein_coding		462		chr11	TogoVar
KRTAP7-1_chr21_30824039_30834759	30825290	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	426	0.0024	28	c.41 others(39): Show c.4144_*4145insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	KRTAP7-1	ENSG00000274749.1	transcript	ENST00000621162.1	protein_coding		3748		chr21	TogoVar
KRTAP9-6_chr17_41260378_41270860	41263222	T T	TGAAGGAA others(21): Show TGAAGGAAGGAAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01192.hp1 HG01257.hp2 others(20): Show HG01070.hp2 HG01192.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01928.hp2 HG01981.hp2 HG02080.hp2 HG02132.hp2 HG02965.hp1 HG03209.hp1 HG03516.hp1 NA18944.hp1 NA18945.hp1 NA18986.hp2 NA18999.hp2 NA19043.hp2 NA19077.hp1 NA19079.hp2 NA19085.hp2 NA19089.hp2 NA19240.hp2	a0000 a0000	a0000c0001 a0000c0001	a0000c0001t0000 a0000c0001t0000	a0000c0001t0000g0000 a0000c0001t0000g0000	23	248	0.0927	28	c.-21 others(39): Show c.-2156_-2155insGAAGGAAGGAAGGAAGGAAGGAAGGAAG	KRTAP9-6	ENSG00000212659.2	transcript	ENST00000391355.2	protein_coding		2155		chr17	TogoVar
KSR1_chr17_27451448_27631435	27526044	T T	TTTCTTTT others(21): Show TTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01433.hp2 HG02132.hp2 others(9): Show HG00738.hp2 HG01433.hp2 HG02132.hp2 HG02258.hp2 HG02273.hp2 HG02717.hp2 HG03098.hp1 HG03225.hp1 NA18952.hp1 NA18954.hp1 NA18967.hp2 NA20129.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0006c0019	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 a0001c0001t0018 a0001c0002t0001 a0001c0002t0009 a0002c0003t0004 a0006c0019t0004	a0001c0001t0002g0015 a0001c0001t0003g0119 a0001c0001t0009g0097 others(9): Show a0001c0001t0002g0015 a0001c0001t0003g0119 a0001c0001t0009g0097 a0001c0001t0013g0103 a0001c0001t0018g0244 a0001c0002t0001g0155 a0001c0002t0001g0182 a0001c0002t0001g0190 a0001c0002t0001g0193 a0001c0002t0009g0099 a0002c0003t0004g0227 a0006c0019t0004g0166	12	246	0.0488	28	c.232 others(47): Show c.232-24523_232-24522insTCTTTTCTTTTCTTTTCTTTTCTTTT CT	KSR1	ENSG00000141068.17	transcript	ENST00000644974.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr17	TogoVar
KSR2_chr12_117448012_117973990	117452573	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0016 a0001c0006t0016	a0001c0006t0016g0179 a0001c0006t0016g0179	1	196	0.0051	28	c.14 others(41): Show c.14625_*14626insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding		438		chr12	TogoVar
KSR2_chr12_117448012_117973990	117586629	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02723.hp1 HG00438.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0058 a0001c0001t0046 a0001c0001t0058	a0001c0001t0046g0028 a0001c0001t0058g0044 a0001c0001t0046g0028 a0001c0001t0058g0044	2	196	0.0102	28	c.117 others(47): Show c.1172-4298_1172-4271dupCTTTCTTTCTTTCTTTCTTTCTTTCT TT	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	5/19			chr12	TogoVar
KSR2_chr12_117448012_117973990	117611445	G G	GACACACA others(21): Show GACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp2 HG01074.hp2 others(31): Show HG00280.hp1 HG00597.hp2 HG01074.hp2 HG01168.hp1 HG01361.hp2 HG01928.hp1 HG01928.hp2 HG01978.hp2 HG02004.hp1 HG02015.hp2 HG02572.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG06807.hp2 NA18943.hp1 NA18944.hp2 NA18959.hp2 NA18962.hp1 NA18973.hp2 NA18975.hp2 NA19000.hp1 NA19011.hp2 NA19056.hp2 NA19064.hp1 NA19066.hp1 NA19081.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0003c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0025 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0025 a0001c0001t0044 a0001c0001t0078 a0001c0001t0100 a0001c0001t0101 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 a0001c0002t0012 a0001c0002t0022 a0001c0002t0051 a0001c0002t0052 a0001c0002t0062 a0001c0002t0075 a0001c0002t0079 a0001c0002t0113 a0001c0002t0124 a0001c0002t0145 a0001c0002t0147 a0001c0003t0003 a0001c0003t0108 a0001c0003t0121 a0001c0004t0056 a0001c0004t0082 a0001c0004t0096 a0001c0004t0146 a0001c0006t0016 a0003c0018t0049	a0001c0001t0001g0079 a0001c0001t0002g0101 a0001c0001t0025g0192 others(31): Show a0001c0001t0001g0079 a0001c0001t0002g0101 a0001c0001t0025g0192 a0001c0001t0044g0019 a0001c0001t0078g0072 a0001c0001t0100g0104 a0001c0001t0101g0087 a0001c0002t0001g0112 a0001c0002t0002g0086 a0001c0002t0002g0091 a0001c0002t0002g0158 a0001c0002t0003g0010 a0001c0002t0004g0109 a0001c0002t0009g0191 a0001c0002t0012g0035 a0001c0002t0022g0160 a0001c0002t0051g0034 a0001c0002t0052g0041 a0001c0002t0062g0056 a0001c0002t0075g0069 a0001c0002t0079g0077 a0001c0002t0113g0156 a0001c0002t0124g0123 a0001c0002t0145g0193 a0001c0002t0147g0188 a0001c0003t0003g0012 a0001c0003t0108g0083 a0001c0003t0121g0089 a0001c0004t0056g0033 a0001c0004t0082g0078 a0001c0004t0096g0105 a0001c0004t0146g0185 a0001c0006t0016g0081 a0003c0018t0049g0037	34	196	0.1735	28	c.117 others(49): Show c.1172-29087_1172-29086insGTGTGTGTGTGTGTGTGTGTGTGT GTGT	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	5/19			chr12	TogoVar
KSR2_chr12_117448012_117973990	117842984	G G	GGGAAGGA others(21): Show GGGAAGGAGGGAGGAGGAAGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0144 a0001c0001t0144	a0001c0001t0144g0189 a0001c0001t0144g0189	1	196	0.0051	28	c.472 others(47): Show c.472+12443_472+12444insTCCTCCCTCCTTCCTCCTCCCTCCTT CC	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	3/19			chr12	TogoVar
KSR2_chr12_117448012_117973990	117947187	A A	AAAGAAAA others(21): Show AAAGAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0023 a0001c0007t0023	a0001c0007t0023g0126 a0001c0007t0023g0126	1	196	0.0051	28	c.180 others(47): Show c.180+20888_180+20889insCTTTCTTTCTTTCTTTCTTTCTTTTC TT	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	1/19			chr12	TogoVar
KTN1_chr14_55575207_55689579	55631341	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA19063.hp2 NA18522.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0114 a0001c0001t0001g0095 a0001c0001t0001g0114	2	314	0.0064	28	c.122 others(47): Show c.1221+1245_1221+1272dupATATATATATATATATATATATATAT AT	KTN1	ENSG00000126777.18	transcript	ENST00000395314.8	protein_coding	7/43		INFO_REALIGN_3_PRIME	chr14	TogoVar
KTN1_chr14_55575207_55689579	55631341	G G	GATTGATA others(21): Show GATTGATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	314	0.0032	28	c.122 others(47): Show c.1221+1246_1221+1247insTGATATATATATATATATATATATAT AT	KTN1	ENSG00000126777.18	transcript	ENST00000395314.8	protein_coding	7/43		INFO_REALIGN_3_PRIME	chr14	TogoVar
KYNU_chr2_142872664_143060833	142977372	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG01243.hp2 others(12): Show HG00323.hp1 HG00558.hp1 HG01243.hp2 HG01891.hp2 HG02258.hp1 HG02886.hp1 HG03017.hp2 HG03453.hp2 HG03516.hp2 NA18953.hp2 NA18962.hp2 NA18993.hp1 NA19077.hp1 NA19088.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0015 a0001c0001t0024 a0001c0001t0125 a0001c0001t0140 a0001c0001t0141 a0001c0003t0107 a0002c0002t0027 a0002c0002t0045 a0002c0002t0070 a0002c0002t0076	a0001c0001t0001g0012 a0001c0001t0001g0117 a0001c0001t0004g0032 others(12): Show a0001c0001t0001g0012 a0001c0001t0001g0117 a0001c0001t0004g0032 a0001c0001t0008g0180 a0001c0001t0008g0187 a0001c0001t0015g0024 a0001c0001t0024g0070 a0001c0001t0125g0183 a0001c0001t0140g0221 a0001c0001t0141g0222 a0001c0003t0107g0098 a0002c0002t0027g0044 a0002c0002t0045g0140 a0002c0002t0070g0319 a0002c0002t0076g0074	15	332	0.0452	28	c.730 others(45): Show c.730-7698_730-7697insATATATATATATATATATATATATATAT	KYNU	ENSG00000115919.15	transcript	ENST00000264170.9	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
L1TD1_chr1_62189849_62217328	62215590	T T	TTTTATTT others(21): Show TTTTATTTATTTATTTATTTATTTATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG03490.hp1 others(2): Show HG01515.hp2 HG01517.hp2 HG03490.hp1 HG04115.hp2 HG04204.hp1	a0010 a0017 a0010 a0017	a0010c0011 a0017c0021 a0010c0011 a0017c0021	a0010c0011t0011 a0017c0021t0011 a0010c0011t0011 a0017c0021t0011	a0010c0011t0011g0006 a0010c0011t0011g0354 a0010c0011t0011g0356 others(1): Show a0010c0011t0011g0006 a0010c0011t0011g0354 a0010c0011t0011g0356 a0017c0021t0011g0357	5	414	0.0121	28	c.42 others(39): Show c.4218_*4219insTTTATTTATTTATTTATTTATTTATTTA	L1TD1	ENSG00000240563.2	transcript	ENST00000498273.2	protein_coding		3263		chr1	TogoVar
L3MBTL2_chr22_41200312_41236271	41215704	A A	ACCCTCTC others(21): Show ACCCTCTCCCGAACATTCGCCTATGTGGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp2 others(141): Show HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp2 HG02004.hp1 HG02109.hp1 HG02129.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp2 NA18951.hp1 NA18953.hp2 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18970.hp1 NA18971.hp2 NA18979.hp1 NA18980.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA19000.hp2 NA19003.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0002 a0001c0006 a0001c0009 others(7): Show a0001c0002 a0001c0006 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0015 a0003c0005 a0004c0007 a0005c0008	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(12): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0006t0001 a0001c0009t0002 a0001c0011t0002 a0001c0012t0002 a0001c0013t0001 a0001c0015t0002 a0003c0005t0002 a0003c0005t0008 a0004c0007t0006 a0005c0008t0002	a0001c0002t0001g0012 a0001c0002t0001g0026 a0001c0002t0001g0035 others(111): Show a0001c0002t0001g0012 a0001c0002t0001g0026 a0001c0002t0001g0035 a0001c0002t0001g0244 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0013 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0056 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0003g0087 a0001c0002t0004g0122 a0001c0002t0004g0216 a0001c0002t0004g0217 a0001c0002t0004g0218 a0001c0002t0004g0219 a0001c0002t0004g0220 a0001c0002t0004g0221 a0001c0002t0004g0222 a0001c0002t0004g0223 a0001c0002t0004g0224 a0001c0002t0004g0225 a0001c0002t0007g0018 a0001c0006t0001g0012 a0001c0006t0001g0240 a0001c0006t0001g0241 a0001c0006t0001g0243 a0001c0009t0002g0238 a0001c0009t0002g0239 a0001c0011t0002g0081 a0001c0012t0002g0121 a0001c0013t0001g0242 a0001c0015t0002g0005 a0003c0005t0002g0024 a0003c0005t0002g0025 a0003c0005t0002g0227 a0003c0005t0002g0228 a0003c0005t0002g0229 a0003c0005t0002g0230 a0003c0005t0008g0024 a0004c0007t0006g0034 a0004c0007t0006g0126 a0005c0008t0002g0231 a0005c0008t0002g0232	144	370	0.3892	28	c.397 others(43): Show c.397-408_397-407insGCCCTCTCCCGAACATTCGCCTATGTGG	L3MBTL2	ENSG00000100395.15	transcript	ENST00000216237.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
L3MBTL2_chr22_41200312_41236271	41215704	A A	ACCCTCTC others(21): Show ACCCTCTCCTGAACATTCGCCTATGTGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01433.hp1 HG02738.hp1 HG00099.hp2 HG01433.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0090 a0001c0002t0002g0104 a0001c0002t0002g0146 a0001c0002t0002g0090 a0001c0002t0002g0104 a0001c0002t0002g0146	3	370	0.0081	28	c.397 others(43): Show c.397-427_397-426insTGAACATTCGCCTATGTGGGCCCTCTCC	L3MBTL2	ENSG00000100395.15	transcript	ENST00000216237.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
L3MBTL3_chr6_130013581_130146438	130048941	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0081 a0001c0003t0001g0081	1	298	0.0034	28	c.103 others(43): Show c.103-339_103-312dupCACACACACACACACACACACACACACA	L3MBTL3	ENSG00000198945.8	transcript	ENST00000361794.7	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
L3MBTL3_chr6_130013581_130146438	130066286	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03516.hp2 HG06807.hp1 HG02486.hp1 HG03516.hp2 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0218 a0001c0003t0001g0219 a0001c0003t0001g0220 a0001c0003t0001g0218 a0001c0003t0001g0219 a0001c0003t0001g0220	3	298	0.0101	28	c.865 others(41): Show c.865-50_865-49insATATATATATATATATATATATATATAT	L3MBTL3	ENSG00000198945.8	transcript	ENST00000361794.7	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
L3MBTL4_chr18_5949717_6419911	6099585	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01192.hp2 HG01081.hp2 HG01192.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0002c0002t0001 a0001c0001t0008 a0002c0002t0001	a0001c0001t0008g0005 a0002c0002t0001g0022 a0001c0001t0008g0005 a0002c0002t0001g0022	2	94	0.0213	28	c.120 others(47): Show c.1200-6058_1200-6057insATATATATATATATATATATATATAT AT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	14/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6118208	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01978.hp2 HG02258.hp1 others(8): Show HG01081.hp1 HG01978.hp2 HG02258.hp1 HG02559.hp2 HG02922.hp2 HG03017.hp1 HG03130.hp2 HG03492.hp1 HG03516.hp1 NA18975.hp1 NA19030.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0005c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0003t0005 a0002c0002t0001 a0005c0010t0002	a0001c0001t0002g0033 a0001c0001t0002g0062 a0001c0001t0003g0024 others(8): Show a0001c0001t0002g0033 a0001c0001t0002g0062 a0001c0001t0003g0024 a0001c0001t0004g0055 a0001c0001t0005g0094 a0001c0001t0006g0093 a0001c0001t0007g0077 a0001c0003t0005g0002 a0002c0002t0001g0019 a0002c0002t0001g0068 a0005c0010t0002g0089	11	94	0.1170	28	c.119 others(49): Show c.1199+19985_1199+19986insGTGTGTGTGTGTGTGTGTGTGTGT GTGT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	14/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6144196	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02976.hp1 NA19043.hp1 HG02486.hp2 HG02976.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0005 a0001c0003 a0003c0005	a0001c0003t0002 a0003c0005t0004 a0001c0003t0002 a0003c0005t0004	a0001c0003t0002g0039 a0003c0005t0004g0085 a0003c0005t0004g0086 a0001c0003t0002g0039 a0003c0005t0004g0085 a0003c0005t0004g0086	3	94	0.0319	28	c.109 others(47): Show c.1097-5901_1097-5900insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	13/18			chr18	TogoVar
LACC1_chr13_43874904_43898932	43879778	T T	TGGGCGAG others(21): Show TGGGCGAGGTGGGCGAGGTGAGGCGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG02004.hp2 HG02135.hp1 others(25): Show HG01978.hp1 HG02004.hp2 HG02135.hp1 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02647.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG03139.hp2 HG03209.hp2 HG03471.hp2 HG03579.hp1 NA18747.hp2 NA18955.hp1 NA18959.hp1 NA18967.hp1 NA18975.hp2 NA18987.hp2 NA18999.hp2 NA19011.hp2 NA19063.hp2 NA19067.hp2 NA19070.hp1 NA19076.hp2 NA19086.hp2 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0009 a0002c0002t0027 a0002c0002t0001 a0002c0002t0009 a0002c0002t0027	a0002c0002t0001g0001 a0002c0002t0001g0012 a0002c0002t0001g0022 others(5): Show a0002c0002t0001g0001 a0002c0002t0001g0012 a0002c0002t0001g0022 a0002c0002t0001g0028 a0002c0002t0001g0085 a0002c0002t0001g0097 a0002c0002t0009g0001 a0002c0002t0027g0001	28	456	0.0614	28	c.-37 others(37): Show c.-376_-375insGGGCGAGGTGGGCGAGGTGAGGCGGGGC	LACC1	ENSG00000179630.11	transcript	ENST00000325686.7	protein_coding		125		chr13	TogoVar
LAMA1_chr18_6936742_7122797	7031680	C C	CAAATAAA others(21): Show CAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02055.hp2 HG02257.hp1 others(7): Show HG00639.hp1 HG02055.hp2 HG02257.hp1 HG02280.hp2 HG02630.hp2 HG02647.hp2 HG02896.hp2 HG02970.hp2 HG03139.hp1 HG03579.hp1	a0007 a0009 a0040 others(7): Show a0007 a0009 a0040 a0042 a0046 a0054 a0074 a0082 a0117 a0120	a0007c0131 a0009c0134 a0040c0207 others(7): Show a0007c0131 a0009c0134 a0040c0207 a0042c0209 a0046c0056 a0054c0169 a0074c0136 a0082c0174 a0117c0047 a0120c0050	a0007c0131t0002 a0009c0134t0002 a0040c0207t0002 others(7): Show a0007c0131t0002 a0009c0134t0002 a0040c0207t0002 a0042c0209t0001 a0046c0056t0001 a0054c0169t0001 a0074c0136t0001 a0082c0174t0001 a0117c0047t0001 a0120c0050t0001	a0007c0131t0002g0002 a0009c0134t0002g0121 a0040c0207t0002g0013 others(7): Show a0007c0131t0002g0002 a0009c0134t0002g0121 a0040c0207t0002g0013 a0042c0209t0001g0195 a0046c0056t0001g0243 a0054c0169t0001g0188 a0074c0136t0001g0245 a0082c0174t0001g0176 a0117c0047t0001g0255 a0120c0050t0001g0254	10	278	0.0360	28	c.227 others(45): Show c.2274+385_2274+386insATTTATTTATTTATTTATTTATTTATTT	LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	16/62			chr18	TogoVar
LAMA2_chr6_128878138_129521566	129048493	T T	TTTCTTTC others(21): Show TTTCTTTCTTTCTTTCTTTCTTTCCTTCC	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0009 a0009	a0009c0064 a0009c0064	a0009c0064t0004 a0009c0064t0004	a0009c0064t0004g0076 a0009c0064t0004g0076	1	88	0.0114	28	c.113 others(45): Show c.113-1422_113-1421insTTTCTTTCTTTCTTTCTTTCCTTCCTTC	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	1/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA2_chr6_128878138_129521566	129051655	C C	CATATCTA others(21): Show CATATCTATAGATCGATCTATAGATATCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19043.hp2 HG02257.hp2 NA19043.hp2	a0004 a0034 a0004 a0034	a0004c0051 a0034c0055 a0004c0051 a0034c0055	a0004c0051t0001 a0034c0055t0002 a0004c0051t0001 a0034c0055t0002	a0004c0051t0001g0008 a0034c0055t0002g0030 a0004c0051t0001g0008 a0034c0055t0002g0030	2	88	0.0227	28	c.283 others(45): Show c.283+1608_283+1635dupCGATCTATAGATATCTATATCTATAGAT	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	2/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA2_chr6_128878138_129521566	129055176	T T	TTTATTAT others(21): Show TTTATTATTATTATTTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02970.hp2 HG02818.hp2 HG02970.hp2	a0002 a0007 a0002 a0007	a0002c0035 a0007c0047 a0002c0035 a0007c0047	a0002c0035t0006 a0007c0047t0006 a0002c0035t0006 a0007c0047t0006	a0002c0035t0006g0028 a0007c0047t0006g0026 a0002c0035t0006g0028 a0007c0047t0006g0026	2	88	0.0227	28	c.284 others(45): Show c.284-4594_284-4593insTATTATTATTATTATTATTATTATTATT	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	2/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA2_chr6_128878138_129521566	129200400	A A	ATGTACAC others(21): Show ATGTACACATATACATATACGTGTATATG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp1 HG02965.hp1 others(1): Show HG02559.hp1 HG02572.hp1 HG02965.hp1 NA18906.hp1	a0003 a0005 a0006 others(1): Show a0003 a0005 a0006 a0021	a0003c0031 a0005c0009 a0006c0007 others(1): Show a0003c0031 a0005c0009 a0006c0007 a0021c0023	a0003c0031t0002 a0005c0009t0001 a0006c0007t0002 others(1): Show a0003c0031t0002 a0005c0009t0001 a0006c0007t0002 a0021c0023t0002	a0003c0031t0002g0005 a0005c0009t0001g0019 a0006c0007t0002g0009 others(1): Show a0003c0031t0002g0005 a0005c0009t0001g0019 a0006c0007t0002g0009 a0021c0023t0002g0086	4	88	0.0455	28	c.178 others(47): Show c.1782+7566_1782+7593dupCGTGTATATGTGTACACATATACATA TA	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	12/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA2_chr6_128878138_129521566	129205478	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA20129.hp1 HG02055.hp1 NA20129.hp1	a0002 a0012 a0002 a0012	a0002c0004 a0012c0005 a0002c0004 a0012c0005	a0002c0004t0001 a0012c0005t0003 a0002c0004t0001 a0012c0005t0003	a0002c0004t0001g0033 a0012c0005t0003g0035 a0002c0004t0001g0033 a0012c0005t0003g0035	2	88	0.0227	28	c.178 others(49): Show c.1782+12641_1782+12642insTATATATATATATATATATATATA TATA	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	12/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA2_chr6_128878138_129521566	129314398	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA20129.hp2 HG02723.hp1 NA20129.hp2	a0017 a0033 a0017 a0033	a0017c0071 a0033c0058 a0017c0071 a0033c0058	a0017c0071t0005 a0033c0058t0009 a0017c0071t0005 a0033c0058t0009	a0017c0071t0005g0050 a0033c0058t0009g0004 a0017c0071t0005g0050 a0033c0058t0009g0004	2	88	0.0227	28	c.341 others(45): Show c.3412-236_3412-235insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	23/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA3_chr18_23684453_23960066	23687746	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG03225.hp1 NA19030.hp1 HG01243.hp1 HG03225.hp1 NA19030.hp1	a0006 a0025 a0032 a0006 a0025 a0032	a0006c0008 a0025c0041 a0032c0026 a0006c0008 a0025c0041 a0032c0026	a0006c0008t0002 a0025c0041t0001 a0032c0026t0001 a0006c0008t0002 a0025c0041t0001 a0032c0026t0001	a0006c0008t0002g0116 a0025c0041t0001g0246 a0032c0026t0001g0152 a0006c0008t0002g0116 a0025c0041t0001g0246 a0032c0026t0001g0152	3	280	0.0107	28	c.-19 others(39): Show c.-1938_-1937insTGTGTGTGTGTGTGTGTGTGTGTGTGTG	LAMA3	ENSG00000053747.17	transcript	ENST00000313654.14	protein_coding		1706		chr18	TogoVar
LAMA3_chr18_23684453_23960066	23837570	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0215	1	280	0.0036	28	c.309 others(45): Show c.3093+505_3093+506insATATATATATATATATATATATATATAT	LAMA3	ENSG00000053747.17	transcript	ENST00000313654.14	protein_coding	25/74		INFO_REALIGN_3_PRIME	chr18	TogoVar
LAMA4_chr6_112102931_112259567	112190947	C C	CTTTCCTT others(21): Show CTTTCCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0081 a0003c0004t0001g0081	1	314	0.0032	28	c.718 others(43): Show c.718+688_718+689insAAAGAAAGAAAGAAAGAAAGAAAGGAAA	LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	6/38			chr6	TogoVar
LAMA4_chr6_112102931_112259567	112207518	A A	AAACCAAC others(21): Show AAACCAACCAACGAACCAACCAACCAACC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02109.hp1 HG02109.hp2 others(9): Show HG00741.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02559.hp1 HG02615.hp2 HG02630.hp1 HG02922.hp1 HG02970.hp2 HG03471.hp1 HG03486.hp1 NA19030.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0011 a0004c0007 a0001c0002 a0001c0011 a0004c0007	a0001c0002t0001 a0001c0011t0003 a0004c0007t0001 a0001c0002t0001 a0001c0011t0003 a0004c0007t0001	a0001c0002t0001g0192 a0001c0002t0001g0254 a0001c0011t0003g0062 others(9): Show a0001c0002t0001g0192 a0001c0002t0001g0254 a0001c0011t0003g0062 a0001c0011t0003g0159 a0001c0011t0003g0236 a0001c0011t0003g0255 a0001c0011t0003g0293 a0004c0007t0001g0157 a0004c0007t0001g0158 a0004c0007t0001g0161 a0004c0007t0001g0162 a0004c0007t0001g0211	12	314	0.0382	28	c.298 others(43): Show c.298-374_298-373insGGTTGGTTGGTTGGTTCGTTGGTTGGTT	LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	3/38			chr6	TogoVar
LAMA5_chr20_62304065_62372312	62313816	C C	CGAGGGGT others(21): Show CGAGGGGTGGCGAGTGGGCACGGAGAGAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0049 a0049	a0049c0121 a0049c0121	a0049c0121t0006 a0049c0121t0006	a0049c0121t0006g0076 a0049c0121t0006g0076	1	186	0.0054	28	c.850 others(43): Show c.8505-42_8505-15dupATCTCTCCGTGCCCACTCGCCACCCCTC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	62/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62332926	T T	TGCAGGAG others(21): Show TGCAGGAGGCAGGAGGCAGGAGGCAGGAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01071.hp2 HG01074.hp1 others(6): Show HG00733.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01192.hp2 HG02071.hp1 HG02572.hp1 HG03491.hp1 HG03579.hp1	a0002 a0007 a0015 others(6): Show a0002 a0007 a0015 a0022 a0040 a0043 a0062 a0063 a0085	a0002c0012 a0007c0014 a0015c0020 others(6): Show a0002c0012 a0007c0014 a0015c0020 a0022c0035 a0040c0089 a0043c0097 a0062c0037 a0063c0038 a0085c0056	a0002c0012t0001 a0007c0014t0001 a0015c0020t0001 others(6): Show a0002c0012t0001 a0007c0014t0001 a0015c0020t0001 a0022c0035t0001 a0040c0089t0001 a0043c0097t0002 a0062c0037t0001 a0063c0038t0001 a0085c0056t0001	a0002c0012t0001g0164 a0007c0014t0001g0176 a0015c0020t0001g0153 others(6): Show a0002c0012t0001g0164 a0007c0014t0001g0176 a0015c0020t0001g0153 a0022c0035t0001g0174 a0040c0089t0001g0109 a0043c0097t0002g0088 a0062c0037t0001g0172 a0063c0038t0001g0171 a0085c0056t0001g0035	9	186	0.0484	28	c.328 others(45): Show c.3282+163_3282+164insCTCCTGCCTCCTGCCTCCTGCCTCCTGC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	26/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62360662	A A	ATGGGTGG others(21): Show ATGGGTGGGTGGGTGGGTGGATGGATAGG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0170 a0007c0014t0001g0170	1	186	0.0054	28	c.450 others(45): Show c.450+1737_450+1738insCCTATCCATCCACCCACCCACCCACCCA	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LAMB3_chr1_209609870_209657425	209624880	G G	GAGGAAGG others(21): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0279 a0001c0003t0002g0279	1	444	0.0023	28	c.197 others(45): Show c.1976+740_1976+767dupTCCTTCCTTCCTTCCTTCCTTCCTTCCT	LAMB3	ENSG00000196878.15	transcript	ENST00000356082.9	protein_coding	14/22			chr1	TogoVar
LAMB4_chr7_108018553_108135361	108024714	G G	GATCCATC others(21): Show GATCCATCCATCCATCCATCCATCCATCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19240.hp1 HG02559.hp1 NA19240.hp1	a0022 a0029 a0022 a0029	a0022c0029 a0029c0067 a0022c0029 a0029c0067	a0022c0029t0002 a0029c0067t0002 a0022c0029t0002 a0029c0067t0002	a0022c0029t0002g0284 a0029c0067t0002g0257 a0022c0029t0002g0284 a0029c0067t0002g0257	2	292	0.0069	28	c.514 others(45): Show c.5147-564_5147-537dupGGATGGATGGATGGATGGATGGATGGAT	LAMB4	ENSG00000091128.13	transcript	ENST00000388781.8	protein_coding	33/33			chr7	TogoVar
LAMC1_chr1_183018420_183150592	183077776	G G	GTGTGTGT others(21): Show GTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG03225.hp2 HG03669.hp1 HG01928.hp1 HG03225.hp2 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0021 a0001c0002t0002 a0001c0002t0021	a0001c0002t0002g0093 a0001c0002t0002g0098 a0001c0002t0021g0021 a0001c0002t0002g0093 a0001c0002t0002g0098 a0001c0002t0021g0021	3	308	0.0097	28	c.419 others(47): Show c.419-25551_419-25550insGTGTGTGTATATATATATATATATAT AT	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
LAMC1_chr1_183018420_183150592	183149661	C C	CCTCCTCA others(21): Show CCTCCTCACACCACACAGCTCACACCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0010 a0010	a0010c0025 a0010c0025	a0010c0025t0022 a0010c0025t0022	a0010c0025t0022g0146 a0010c0025t0022g0146	1	308	0.0033	28	c.68 others(39): Show c.6871_*6872insCTCCTCACACCACACAGCTCACACCCCT	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		4070		chr1	TogoVar
LAMC1_chr1_183018420_183150592	183149755	C C	CCTCCTCA others(21): Show CCTCCTCACACCACAGAGCCCACACCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03540.hp2 NA20129.hp1 HG03471.hp1 HG03540.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0030 a0002c0006 a0001c0003 a0001c0030 a0002c0006	a0001c0003t0003 a0001c0030t0029 a0002c0006t0002 a0001c0003t0003 a0001c0030t0029 a0002c0006t0002	a0001c0003t0003g0292 a0001c0030t0029g0243 a0002c0006t0002g0179 a0001c0003t0003g0292 a0001c0030t0029g0243 a0002c0006t0002g0179	3	308	0.0097	28	c.69 others(39): Show c.6965_*6966insCTCCTCACACCACAGAGCCCACACCCCT	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		4164		chr1	TogoVar
LAMC1_chr1_183018420_183150592	183149880	T T	TCCTCCTC others(21): Show TCCTCCTCACACACCACACAGCCCACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0010 a0010	a0010c0025 a0010c0025	a0010c0025t0022 a0010c0025t0022	a0010c0025t0022g0146 a0010c0025t0022g0146	1	308	0.0033	28	c.70 others(39): Show c.7090_*7091insCCTCCTCACACACCACACAGCCCACACC	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		4289		chr1	TogoVar
LAMC1_chr1_183018420_183150592	183149942	C C	CCTCTCCT others(21): Show CCTCTCCTCCTCACACACCACACAGCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0003 a0001c0043t0003	a0001c0043t0003g0277 a0001c0043t0003g0277	1	308	0.0033	28	c.71 others(39): Show c.7152_*7153insCTCTCCTCCTCACACACCACACAGCTCA	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		4351		chr1	TogoVar
LAMC1_chr1_183018420_183150592	183150073	T T	TCTCCTCA others(21): Show TCTCCTCACACACCAGACAGCTCACACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 NA18973.hp1 HG03453.hp1 NA18973.hp1	a0001 a0002 a0001 a0002	a0001c0018 a0002c0001 a0001c0018 a0002c0001	a0001c0018t0010 a0002c0001t0001 a0001c0018t0010 a0002c0001t0001	a0001c0018t0010g0138 a0002c0001t0001g0161 a0001c0018t0010g0138 a0002c0001t0001g0161	2	308	0.0065	28	c.72 others(39): Show c.7283_*7284insCTCCTCACACACCAGACAGCTCACACCC	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		4482		chr1	TogoVar
LAMC2_chr1_183181264_183250127	183199439	T T	TCCTTCTT others(21): Show TCCTTCTTTCCTTCCTTCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	336	0.0030	28	c.80- others(43): Show c.80-8441_80-8414dupCCTTCTTTCCTTCCTTCCTCCCTCCCTC	LAMC2	ENSG00000058085.15	transcript	ENST00000264144.5	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
LAMC3_chr9_131004174_131099473	131022215	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA18971.hp2 NA19010.hp1 others(1): Show HG01099.hp1 NA18971.hp2 NA19010.hp1 NA19012.hp1	a0022 a0041 a0073 others(1): Show a0022 a0041 a0073 a0108	a0022c0024 a0041c0165 a0073c0163 others(1): Show a0022c0024 a0041c0165 a0073c0163 a0108c0090	a0022c0024t0001 a0041c0165t0001 a0073c0163t0002 others(1): Show a0022c0024t0001 a0041c0165t0001 a0073c0163t0002 a0108c0090t0002	a0022c0024t0001g0273 a0041c0165t0001g0269 a0073c0163t0002g0268 others(1): Show a0022c0024t0001g0273 a0041c0165t0001g0269 a0073c0163t0002g0268 a0108c0090t0002g0051	4	360	0.0111	28	c.374 others(45): Show c.374-4068_374-4041dupCACACACACACACACACACACACACACA	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
LAMC3_chr9_131004174_131099473	131047165	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA19030.hp1 HG01361.hp1 NA19030.hp1	a0001 a0011 a0001 a0011	a0001c0013 a0011c0053 a0001c0013 a0011c0053	a0001c0013t0001 a0011c0053t0001 a0001c0013t0001 a0011c0053t0001	a0001c0013t0001g0173 a0011c0053t0001g0288 a0001c0013t0001g0173 a0011c0053t0001g0288	2	360	0.0056	28	c.151 others(47): Show c.1519+1522_1519+1523insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
LAMC3_chr9_131004174_131099473	131052298	A A	AGTGTGGG others(21): Show AGTGTGGGGGCGTGTGTGACTGCAGAGGT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0051 a0051	a0051c0039 a0051c0039	a0051c0039t0001 a0051c0039t0001	a0051c0039t0001g0239 a0051c0039t0001g0239	1	360	0.0028	28	c.163 others(45): Show c.1631-189_1631-162dupTGGGGGCGTGTGTGACTGCAGAGGTGTG	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding	9/27		INFO_REALIGN_3_PRIME	chr9	TogoVar

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