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
MAL_chr2_95020708_95058992	95037358	G G	GACTGAGT others(25): Show GACTGAGTGACTGAGTGAGTGACTGAGTGACTA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	324	0.0031	32	c.94- others(49): Show c.94-10592_94-10591insCTGAGTGAGTGACTGAGTGACTAACTGA GTGA	MAL	ENSG00000172005.11	transcript	ENST00000309988.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(25): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0284 a0001c0023t0001g0284	1	340	0.0029	32	c.191 others(51): Show c.1911+2785_1911+2786insTATATATAGAGAGAGAGAGAGAGAGA GAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(25): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18992.hp1 HG01884.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0202 a0001c0001t0001g0106 a0001c0001t0001g0202	2	340	0.0059	32	c.191 others(51): Show c.1911+2785_1911+2786insTATATATATAGAGAGAGAGAGAGAGA GAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(25): Show TATATATATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	340	0.0029	32	c.191 others(51): Show c.1911+2785_1911+2786insTATATATATATAGAGAGAGAGAGAGA GAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(25): Show TATATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp2 HG03831.hp1 HG02145.hp2 HG02572.hp2 HG03831.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0013 a0001c0001 a0010c0013	a0001c0001t0001 a0010c0013t0002 a0001c0001t0001 a0010c0013t0002	a0001c0001t0001g0043 a0001c0001t0001g0058 a0010c0013t0002g0158 a0001c0001t0001g0043 a0001c0001t0001g0058 a0010c0013t0002g0158	3	340	0.0088	32	c.191 others(51): Show c.1911+2785_1911+2786insTATATATATATATAGAGAGAGAGAGA GAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(25): Show TATATATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01928.hp2 NA19055.hp1 HG01928.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0224 a0001c0001t0001g0045 a0001c0001t0001g0224	2	340	0.0059	32	c.191 others(51): Show c.1911+2785_1911+2786insTATATATATATATATAGAGAGAGAGA GAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(25): Show TATATATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02273.hp2 NA18990.hp1 HG02109.hp2 HG02273.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0184 a0001c0001t0001g0285 a0001c0001t0001g0055 a0001c0001t0001g0184 a0001c0001t0001g0285	3	340	0.0088	32	c.191 others(51): Show c.1911+2785_1911+2786insTATATATATATATATATAGAGAGAGA GAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(25): Show TATATATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02258.hp1 HG03540.hp2 HG01081.hp1 HG02258.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0063 a0001c0001t0001g0193 a0001c0014t0001g0191 a0001c0001t0001g0063 a0001c0001t0001g0193 a0001c0014t0001g0191	3	340	0.0088	32	c.191 others(51): Show c.1911+2785_1911+2786insTATATATATATATATATATAGAGAGA GAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70225427	G G	GCCTGGGG others(25): Show GCCTGGGGGGGAGGAGGGTGCGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	340	0.0029	32	c.191 others(49): Show c.1912-323_1912-322insCCTGGGGGGGAGGAGGGTGCGAGGGAGA GGGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13			chr9	TogoVar
MAML2_chr11_95971598_96348195	95998174	G G	GTCTGTCT others(25): Show GTCTGTCTGTCTGTCTGTCTGTCTGTCTATCTA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0036 a0001c0002t0005g0036	1	230	0.0044	32	c.214 others(51): Show c.2140-6452_2140-6451insTAGATAGACAGACAGACAGACAGACA GACAGA	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96121780	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0046 a0003c0004t0046	a0003c0004t0046g0227 a0003c0004t0046g0227	1	230	0.0044	32	c.514 others(51): Show c.514-28264_514-28263insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96159404	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	230	0.0044	32	c.514 others(51): Show c.514-65888_514-65887insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96299060	A A	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0173 a0001c0002t0003g0173	1	230	0.0044	32	c.513 others(51): Show c.513+42322_513+42323insATATATATATATATATATATATATAT ATATTT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96299060	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02647.hp2 HG03130.hp1 HG02145.hp1 HG02647.hp2 HG03130.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0045 a0004c0005t0004 a0004c0005t0048 a0001c0001t0045 a0004c0005t0004 a0004c0005t0048	a0001c0001t0045g0224 a0004c0005t0004g0156 a0004c0005t0048g0230 a0001c0001t0045g0224 a0004c0005t0004g0156 a0004c0005t0048g0230	3	230	0.0130	32	c.513 others(51): Show c.513+42322_513+42323insATATATATATATATATATATATATAT ATATAT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96343237	G G	GGGTGGGG others(25): Show GGGTGGGGGGAGGGGGTGGGGGGGGTGGTGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0079 a0001c0002t0002g0079	1	230	0.0044	32	c.-13 others(43): Show c.-1343_-1342insGGCCACCACCCCCCCCACCCCCTCCCCCCACC	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding		43		chr11	TogoVar
MAML3_chr4_139711753_140159184	139781508	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA20805.hp1 HG00741.hp2 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0004 a0004c0006 a0001c0004 a0004c0006	a0001c0004t0001 a0004c0006t0043 a0001c0004t0001 a0004c0006t0043	a0001c0004t0001g0108 a0004c0006t0043g0151 a0001c0004t0001g0108 a0004c0006t0043g0151	2	152	0.0132	32	c.208 others(53): Show c.2080-50842_2080-50841insATATATATATATATATATATATAT ATATATAT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	140074207	A A	AAGAAAGA others(25): Show AAGAAAGAAAGAGAGAGAGAGAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	152	0.0066	32	c.468 others(51): Show c.468+78652_468+78653insCTTTCTTTCTCTCTCTCTCTCTCTTT CTTTCT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	140074211	A A	AAGAAAGA others(25): Show AAGAAAGAAAGAGAGAGAGAGAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp2 HG02148.hp1 HG02148.hp2	a0003 a0008 a0003 a0008	a0003c0005 a0008c0013 a0003c0005 a0008c0013	a0003c0005t0001 a0008c0013t0037 a0003c0005t0001 a0008c0013t0037	a0003c0005t0001g0066 a0008c0013t0037g0117 a0003c0005t0001g0066 a0008c0013t0037g0117	2	152	0.0132	32	c.468 others(51): Show c.468+78648_468+78649insCTTTCTTTCTCTCTCTCTCTCTCTTT CTTTCT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAMLD1_chrX_150358317_150519173	150404051	A A	AAAGGAAG others(25): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG06807.hp2 HG03704.hp2 HG06807.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0007 a0001c0001 a0010c0007	a0001c0001t0001 a0010c0007t0002 a0001c0001t0001 a0010c0007t0002	a0001c0001t0001g0009 a0010c0007t0002g0037 a0001c0001t0001g0009 a0010c0007t0002g0037	2	226	0.0089	32	c.-64 others(51): Show c.-64+40535_-64+40536insGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAA	MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAN1A2_chr1_117362449_117533872	117417534	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0012 a0001c0001t0016g0012	1	370	0.0027	32	c.774 others(49): Show c.774+2727_774+2728insATATATATATATATATATATATATATAT ATAT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117526880	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0213 a0001c0001t0213	a0001c0001t0213g0216 a0001c0001t0213g0216	1	370	0.0027	32	c.39 others(43): Show c.3924_*3925insCTCTCTCTCTCTATATATATATATATATATAT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	13/13	3925	INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117526880	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0110	a0001c0001t0110g0029 a0001c0001t0110g0029	1	370	0.0027	32	c.39 others(43): Show c.3924_*3925insCTCTCTCTCTCTCTCTCTCTATATATATATAT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	13/13	3925	INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1B1_chr9_137081985_137114183	137114124	C C	CCCCGTGA others(25): Show CCCCGTGACCCCCGCCCGCGACCCCGCCCGGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	404	0.0025	32	c.55 others(43): Show c.5533_*5534insCCCGTGACCCCCGCCCGCGACCCCGCCCGGCA	MAN1B1	ENSG00000177239.16	transcript	ENST00000371589.9	protein_coding		4942		chr9	TogoVar
MAN1C1_chr1_25611791_25789450	25644518	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02572.hp2 HG02809.hp2 HG01255.hp1 HG02572.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0004t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0004t0001g0142	3	250	0.0120	32	c.540 others(51): Show c.540+26182_540+26183insATATATATATATATATATATATATTT TTTTTT	MAN1C1	ENSG00000117643.16	transcript	ENST00000374332.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1C1_chr1_25611791_25789450	25644518	A A	ATATATAT others(25): Show ATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02717.hp2 HG03225.hp2 HG02486.hp1 HG02717.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0003t0001g0243 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0003t0001g0243	3	250	0.0120	32	c.540 others(51): Show c.540+26182_540+26183insATATATATATATATATATATATTTTT TTTTTT	MAN1C1	ENSG00000117643.16	transcript	ENST00000374332.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN2A1_chr5_109684927_109874625	109708509	G G	GACACACA others(25): Show GACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02056.hp2 HG03239.hp2 others(4): Show HG00099.hp1 HG02056.hp2 HG03239.hp2 NA18944.hp1 NA18957.hp2 NA18986.hp2 NA18991.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0008 a0001c0005t0021 a0002c0002t0002 others(1): Show a0001c0005t0008 a0001c0005t0021 a0002c0002t0002 a0002c0002t0034	a0001c0005t0008g0011 a0001c0005t0021g0262 a0002c0002t0002g0204 others(4): Show a0001c0005t0008g0011 a0001c0005t0021g0262 a0002c0002t0002g0204 a0002c0002t0002g0216 a0002c0002t0002g0228 a0002c0002t0002g0240 a0002c0002t0034g0218	7	296	0.0237	32	c.136 others(49): Show c.136-5005_136-4974dupCACACACACACACACACACACACACACA CACA	MAN2A1	ENSG00000112893.10	transcript	ENST00000261483.5	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
MANBA_chr4_102625770_102765968	102747158	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02886.hp1 HG00735.hp2 HG02886.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0005 a0001c0004 a0003c0005	a0001c0004t0009 a0003c0005t0012 a0001c0004t0009 a0003c0005t0012	a0001c0004t0009g0014 a0003c0005t0012g0015 a0001c0004t0009g0014 a0003c0005t0012g0015	2	280	0.0071	32	c.177 others(51): Show c.177+13559_177+13560insATATATATATATATATATATATATAT ATATAT	MANBA	ENSG00000109323.11	transcript	ENST00000647097.2	protein_coding	1/16			chr4	TogoVar
MAP1LC3B2_chr12_116554381_116581606	116560204	A A	ATATATAT others(25): Show ATATATATATATATATATATATGTATGTATATG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0355 a0001c0001t0009g0355	1	446	0.0022	32	c.-10 others(49): Show c.-102+792_-102+793insGTATGTATATGTATATATATATATATAT ATAT	MAP1LC3B2	ENSG00000258102.5	transcript	ENST00000556529.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
MAP2K1_chr15_66381912_66496544	66420706	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0163 a0001c0001t0009g0163	1	372	0.0027	32	c.81- others(49): Show c.81-14305_81-14304insATATATATATATATATATATATATATAT ATAT	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K1_chr15_66381912_66496544	66420721	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0366 a0001c0001t0001g0366	1	372	0.0027	32	c.81- others(49): Show c.81-14305_81-14304insATATATATATATATATATATATATATGT GTGT	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K1_chr15_66381912_66496544	66420721	A A	ATATATAT others(25): Show ATATATATATATATATATATATATGTATATATG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01433.hp1 HG01496.hp1 others(1): Show HG01261.hp2 HG01433.hp1 HG01496.hp1 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 others(1): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0040	4	372	0.0108	32	c.81- others(49): Show c.81-14305_81-14304insATATATATATATATATATATATGTATAT ATGT	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K1_chr15_66381912_66496544	66420721	A A	ATATATAT others(25): Show ATATATATATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0333	1	372	0.0027	32	c.81- others(49): Show c.81-14305_81-14304insATATATATATATATATATATATGTGTGT GTGT	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K1_chr15_66381912_66496544	66420721	A A	ATATATAT others(25): Show ATATATATATATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0365 a0001c0001t0001g0365	1	372	0.0027	32	c.81- others(49): Show c.81-14305_81-14304insATATATATATATATATATATGTGTGTGT GTGT	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K1_chr15_66381912_66496544	66420721	A A	ATATATAT others(25): Show ATATATATATATATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0345 a0001c0001t0001g0345	1	372	0.0027	32	c.81- others(49): Show c.81-14305_81-14304insATATATATATATATATGTGTGTGTGTGT GTGT	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K1_chr15_66381912_66496544	66469693	G G	GACACACA others(25): Show GACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02976.hp1 NA18989.hp1 HG02970.hp1 HG02976.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0215 a0001c0001t0001g0237 a0001c0001t0001g0139 a0001c0001t0001g0215 a0001c0001t0001g0237	3	372	0.0081	32	c.569 others(51): Show c.569-12031_569-12030insCACACACACACACACACACACACACA CACACA	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K1_chr15_66381912_66496544	66469723	C C	CACACACA others(25): Show CACACACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02886.hp1 HG00438.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0243 a0001c0001t0008g0068 a0001c0001t0005g0243 a0001c0001t0008g0068	2	372	0.0054	32	c.569 others(51): Show c.569-12031_569-12030insCACACACACACACACACACACACACA CACATA	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K1_chr15_66381912_66496544	66469723	C C	CACACACA others(25): Show CACACACACACACACACACACACACACACATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0161 a0001c0001t0005g0161	1	372	0.0027	32	c.569 others(51): Show c.569-12031_569-12030insCACACACACACACACACACACACACA CATATA	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67590468	T T	TCTCTCTC others(25): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01346.hp2 HG02071.hp2 others(12): Show HG01074.hp2 HG01346.hp2 HG02071.hp2 HG02602.hp1 HG02723.hp2 HG03453.hp1 HG04204.hp2 NA18955.hp2 NA18967.hp2 NA18973.hp2 NA19001.hp1 NA19004.hp1 NA19063.hp1 NA19074.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0001t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0068 a0001c0001t0004g0229 a0001c0001t0004g0230 others(12): Show a0001c0001t0001g0068 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0238 a0001c0001t0004g0243 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0249 a0001c0001t0004g0253 a0001c0001t0004g0255 a0001c0001t0004g0263 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0002t0001g0214	15	278	0.0540	32	c.432 others(49): Show c.432-2450_432-2449insCTCTCTCTCTCTCTCTCTCTCTCACTCT CTCT	MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2_chr2_209419047_209739112	209616636	G G	GAATAGTT others(25): Show GAATAGTTACTGAACAAGTATTTGCTACCAAAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0010 a0004c0007t0010	a0004c0007t0010g0148 a0004c0007t0010g0148	1	148	0.0068	32	c.-10 others(51): Show c.-106-8414_-106-8383dupTAGTTACTGAACAAGTATTTGCTACC AAACAA	MAP2	ENSG00000078018.22	transcript	ENST00000682079.1	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K13_chr3_185358136_185494094	185483711	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTGGTTTGTTGGTTTGGTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01433.hp2 NA18975.hp1 HG01433.hp2 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0044 a0001c0002t0030 a0001c0002t0044	a0001c0002t0030g0272 a0001c0002t0044g0239 a0001c0002t0030g0272 a0001c0002t0044g0239	2	278	0.0072	32	c.12 others(43): Show c.1270_*1271insGGTTTGTTGGTTTGGTTTTTTTTTTTTTTTTT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	14/14	1271	INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185483711	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTGGTTTGTTGGTTTGGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG01081.hp1 HG01099.hp1 others(24): Show HG00140.hp2 HG01081.hp1 HG01099.hp1 HG01358.hp1 HG01433.hp1 HG02109.hp1 HG02109.hp2 HG02300.hp2 HG02886.hp1 HG03209.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 NA18945.hp1 NA18962.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp2 NA18983.hp1 NA18985.hp1 NA19002.hp2 NA20752.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0016 others(1): Show a0001c0001 a0001c0002 a0001c0016 a0007c0013	a0001c0001t0004 a0001c0001t0019 a0001c0001t0054 others(5): Show a0001c0001t0004 a0001c0001t0019 a0001c0001t0054 a0001c0002t0004 a0001c0002t0019 a0001c0002t0055 a0001c0016t0059 a0007c0013t0004	a0001c0001t0004g0032 a0001c0001t0004g0059 a0001c0001t0004g0061 others(24): Show a0001c0001t0004g0032 a0001c0001t0004g0059 a0001c0001t0004g0061 a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0069 a0001c0001t0004g0095 a0001c0001t0004g0120 a0001c0001t0004g0133 a0001c0001t0004g0142 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0175 a0001c0001t0004g0182 a0001c0001t0004g0193 a0001c0001t0004g0198 a0001c0001t0004g0274 a0001c0001t0019g0110 a0001c0001t0054g0007 a0001c0002t0004g0049 a0001c0002t0004g0137 a0001c0002t0004g0246 a0001c0002t0004g0273 a0001c0002t0019g0111 a0001c0002t0055g0201 a0001c0016t0059g0052 a0007c0013t0004g0060	27	278	0.0971	32	c.12 others(43): Show c.1271_*1272insGGTTTGTTGGTTTGGTTTTTTTTTTTTTTTTT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	14/14	1272	INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185483711	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTGGTTTGTTGGTTTGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0103 a0001c0001t0058g0103	1	278	0.0036	32	c.12 others(43): Show c.1272_*1273insGGTTTGTTGGTTTGGTTTTTTTTTTTTTTTTT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	14/14	1273	INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02004.hp2 HG01952.hp2 HG02004.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0004 a0003c0005t0005 a0001c0001t0004 a0003c0005t0005	a0001c0001t0004g0082 a0003c0005t0005g0084 a0001c0001t0004g0082 a0003c0005t0005g0084	2	334	0.0060	32	c.160 others(51): Show c.160-35376_160-35375insATATATATATATATATATATATATAT ATTTTT	MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(25): Show ATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	334	0.0030	32	c.160 others(51): Show c.160-35376_160-35375insATATATATATATATATATTTTTTTTT TTTTTT	MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(25): Show ATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	334	0.0030	32	c.160 others(51): Show c.160-35376_160-35375insATATATATATATATTTTTTTTTTTTT TTTTTT	MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATTT others(25): Show ATATATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0028 a0003c0005t0005g0028	1	334	0.0030	32	c.160 others(51): Show c.160-35376_160-35375insATATTTTTTTTTTTTTTTTTTTTTTT TTTTTT	MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K5_chr6_136552046_136797477	136585469	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA19002.hp2 HG04204.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0121 a0001c0002t0001g0036 a0001c0001t0001g0121 a0001c0002t0001g0036	2	162	0.0124	32	c.322 others(51): Show c.3226-1730_3226-1729insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA	MAP3K5	ENSG00000197442.11	transcript	ENST00000359015.5	protein_coding	23/29			chr6	TogoVar
MAP3K5_chr6_136552046_136797477	136737037	G G	GTGTATAT others(25): Show GTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19043.hp1 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0032 a0001c0004 a0001c0032	a0001c0004t0001 a0001c0032t0001 a0001c0004t0001 a0001c0032t0001	a0001c0004t0001g0056 a0001c0032t0001g0154 a0001c0004t0001g0056 a0001c0032t0001g0154	2	162	0.0124	32	c.449 others(51): Show c.449-16449_449-16448insTATATATATATATATATATATATATA TATACA	MAP3K5	ENSG00000197442.11	transcript	ENST00000359015.5	protein_coding	1/29			chr6	TogoVar
MAP3K5_chr6_136552046_136797477	136759454	C C	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0073 a0001c0009t0001g0073	1	162	0.0062	32	c.448 others(51): Show c.448+32255_448+32256insTATATATATATATATATATATATATA TATATA	MAP3K5	ENSG00000197442.11	transcript	ENST00000359015.5	protein_coding	1/29			chr6	TogoVar
MAP3K5_chr6_136552046_136797477	136769793	A A	AAGGAAGG others(25): Show AAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp2 NA18947.hp1 HG02280.hp2 HG02451.hp2 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0026 a0001c0001 a0001c0012 a0001c0026	a0001c0001t0001 a0001c0012t0001 a0001c0026t0001 a0001c0001t0001 a0001c0012t0001 a0001c0026t0001	a0001c0001t0001g0084 a0001c0012t0001g0074 a0001c0026t0001g0078 a0001c0001t0001g0084 a0001c0012t0001g0074 a0001c0026t0001g0078	3	162	0.0185	32	c.448 others(51): Show c.448+21916_448+21917insCCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCT	MAP3K5	ENSG00000197442.11	transcript	ENST00000359015.5	protein_coding	1/29			chr6	TogoVar

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