Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
LYPD6B_chr2_149033699_149220262	149120383	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	264	0.0038	42	c.-66 others(61): Show c.-66-10499_-66-10498insATATATATATATATATATATATATAT ATTTTTTTTTTTTTTT	LYPD6B	ENSG00000150556.17	transcript	ENST00000409642.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
LYZL2_chr10_30606779_30634753	30611722	G G	GAAAGAAA others(35): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	456	0.0022	42	c.23 others(51): Show c.232_*233insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	LYZL2	ENSG00000151033.10	transcript	ENST00000647634.2	protein_coding		56		chr10	TogoVar
MACIR_chr5_103253763_103283660	103261654	C C	CTTTCTTT others(35): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03516.hp2 HG03139.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0006 a0001c0002t0003 a0001c0002t0006	a0001c0002t0003g0060 a0001c0002t0006g0061 a0001c0002t0003g0060 a0001c0002t0006g0061	2	360	0.0056	42	c.-11 others(61): Show c.-114+2797_-114+2798insTCTTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MACROD2_chr20_13990516_16058197	14230654	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0020 a0001c0001t0012g0020	1	24	0.0417	42	c.271 others(63): Show c.271+144927_271+144928insTATATATATATATATATATATATA TATATATATATAAAAAAA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	14230654	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0019 a0003c0003t0006g0019	1	24	0.0417	42	c.271 others(63): Show c.271+144927_271+144928insTATATATATATATATATATATATA TATATATATATATAAAAA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	14600343	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0020 a0001c0001t0012g0020	1	24	0.0417	42	c.302 others(61): Show c.302-84499_302-84498insTATATATATATATATATATATATATA TATATATATACACACA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	15152473	T T	TGGGGCAC others(35): Show TGGGGCACAGAGATAAGAGGTCAGGGCACGGAAATAAGGGATC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp1 HG02257.hp1 others(11): Show HG00738.hp2 HG01081.hp1 HG02257.hp1 HG02559.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03209.hp1 HG03486.hp1 NA18970.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0010	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0021 others(11): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0002g0015 a0001c0001t0003g0002 a0001c0001t0004g0016 a0001c0001t0005g0003 a0001c0001t0009g0005 a0001c0001t0011g0009 a0001c0001t0012g0020 a0002c0002t0001g0017 a0002c0002t0002g0010 a0002c0002t0003g0024 a0002c0002t0010g0007	14	24	0.5833	42	c.419 others(61): Show c.419-77447_419-77446insCAGGGCACGGAAATAAGGGATCGGGG CACAGAGATAAGAGGT	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	15152516	G G	GGGGCACA others(35): Show GGGGCACAGAGATAAGAGGTTGGGGCATGGAAATAAGGGATCA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01168.hp1 HG00738.hp1 HG01168.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0013 a0003c0003t0006 a0001c0001t0013 a0003c0003t0006	a0001c0001t0013g0006 a0003c0003t0006g0019 a0001c0001t0013g0006 a0003c0003t0006g0019	2	24	0.0833	42	c.419 others(61): Show c.419-77405_419-77404insTGGGGCATGGAAATAAGGGATCAGGG CACAGAGATAAGAGGT	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	15869238	T T	TATATATA others(35): Show TATATATATATATATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	24	0.0417	42	c.727 others(59): Show c.727+6413_727+6414insTATATATATATATATATATATATAGAGA GAGAGAGAGAGAGA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MAD1L1_chr7_1810795_2237945	1930037	T T	TCCCCTCG others(35): Show TCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCGCCCCGTC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA19060.hp1 NA20300.hp2 NA18984.hp1 NA19060.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0030 a0002c0002t0001g0045 a0002c0002t0001g0027 a0002c0002t0001g0030 a0002c0002t0001g0045	3	264	0.0114	42	c.180 others(61): Show c.1807+6649_1807+6650insGACGGGGCGAGGGGACGTGGCAGTGG GGGATGGGGCGAGGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAEA_chr4_1284891_1345137	1330310	T T	TTCTCTCT others(35): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0371 a0001c0002t0001g0371	1	388	0.0026	42	c.657 others(59): Show c.657-2432_657-2431insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCT	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAFA_chr8_143423064_143435732	143425224	G G	GGGGGGTC others(35): Show GGGGGGTCCAGGTGGGCTGTCGGGCACAGACGTGTGTGTGCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA19089.hp1 NA18939.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0002g0000 a0001c0001t0004g0000	2	446	0.0045	42	c.41 others(53): Show c.4120_*4121insACGCACACACACGTCTGTGCCCGACAGCCCACCT GGACCCCC	MAFA	ENSG00000182759.4	transcript	ENST00000333480.3	protein_coding		2839		chr8	TogoVar
MAFA_chr8_143423064_143435732	143425282	G G	GTCGGGCA others(35): Show GTCGGGCACAGACGTGTGTGTGCGTGGGGTCCAGGTGGGCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00438.hp1 others(126): Show HG00280.hp1 HG00408.hp1 HG00438.hp1 HG00639.hp1 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02083.hp2 HG02109.hp1 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp2 NA18947.hp2 NA18951.hp2 NA18952.hp2 NA18956.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18978.hp2 NA18980.hp2 NA18982.hp2 NA18986.hp2 NA18988.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19043.hp1 NA19065.hp1 NA19066.hp1 NA19080.hp1 NA19081.hp2 NA19085.hp2 NA19087.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0001c0008 a0004c0004 others(1): Show a0001c0001 a0001c0008 a0004c0004 a0008c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0027 a0001c0001t0028 a0001c0001t0037 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0008t0004 a0004c0004t0002 a0008c0010t0010	a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 others(12): Show a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0010g0000 a0001c0001t0014g0000 a0001c0001t0015g0000 a0001c0001t0027g0000 a0001c0001t0028g0000 a0001c0001t0037g0000 a0001c0001t0040g0000 a0001c0001t0041g0000 a0001c0001t0042g0000 a0001c0008t0004g0000 a0004c0004t0002g0000 a0008c0010t0010g0000	129	446	0.2892	42	c.40 others(53): Show c.4062_*4063insACAGCCCACCTGGACCCCACGCACACACACGTCT GTGCCCGA	MAFA	ENSG00000182759.4	transcript	ENST00000333480.3	protein_coding		2781		chr8	TogoVar
MAGED4_chrX_52179888_52197268	52193536	A A	AACACACA others(35): Show AACACACACACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0041 a0002c0003t0001g0041	1	220	0.0046	42	c.14 others(53): Show c.1470_*1471insACACACACACACACACACACACACACACACACAC ACACACAC	MAGED4	ENSG00000154545.17	transcript	ENST00000471932.6	protein_coding		1269		chrX	TogoVar
MAGI1_chr3_65348526_66043918	65530854	C C	CACACACA others(35): Show CACACACACACACACACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	104	0.0096	42	c.431 others(61): Show c.431-37224_431-37223insATATATATATATATATATATATATAT GTGTGTGTGTGTGTGT	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	2/22			chr3	TogoVar
MAGI2_chr7_78012055_79458667	79367858	C C	CACACACA others(35): Show CACACACACACACACACACACACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	40	0.0250	42	c.301 others(61): Show c.301+85161_301+85162insATATATATATATATATATATGTGTGT GTGTGTGTGTGTGTGT	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21			chr7	TogoVar
MAGI3_chr1_113385515_113690923	113484713	C C	CTCCCCTC others(35): Show CTCCCCTCTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0134 a0001c0001t0010g0134	1	236	0.0042	42	c.317 others(61): Show c.317-64798_317-64797insCTCTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCC	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAG_chr19_35287161_35318807	35305918	G G	GCACTCCA others(35): Show GCACTCCAGCCTGGATGACAGAGCAAGACTGTCCCACCCCCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(219): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18970.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19072.hp2 NA19074.hp1 NA19080.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0011	a0001c0001 a0001c0004 a0001c0005 others(17): Show a0001c0001 a0001c0004 a0001c0005 a0001c0010 a0001c0012 a0001c0014 a0001c0018 a0001c0019 a0002c0006 a0002c0007 a0002c0011 a0002c0026 a0003c0008 a0004c0009 a0005c0013 a0006c0023 a0006c0024 a0007c0015 a0009c0020 a0011c0017	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0005t0001 a0001c0010t0001 a0001c0012t0001 a0001c0012t0002 a0001c0014t0001 a0001c0018t0001 a0001c0019t0001 a0002c0006t0001 a0002c0007t0001 a0002c0011t0001 a0002c0026t0001 a0003c0008t0001 a0004c0009t0001 a0005c0013t0001 a0006c0023t0001 a0006c0024t0001 a0007c0015t0001 a0009c0020t0001 a0011c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(129): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0191 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0244 a0001c0001t0002g0007 a0001c0001t0002g0015 a0001c0004t0001g0005 a0001c0004t0001g0049 a0001c0004t0001g0050 a0001c0004t0001g0153 a0001c0004t0001g0177 a0001c0004t0001g0196 a0001c0004t0001g0199 a0001c0004t0001g0200 a0001c0004t0001g0201 a0001c0004t0001g0202 a0001c0004t0001g0203 a0001c0004t0001g0204 a0001c0004t0001g0206 a0001c0004t0001g0207 a0001c0004t0001g0208 a0001c0004t0001g0209 a0001c0004t0001g0214 a0001c0005t0001g0018 a0001c0005t0001g0019 a0001c0005t0001g0027 a0001c0005t0001g0041 a0001c0005t0001g0042 a0001c0005t0001g0135 a0001c0005t0001g0136 a0001c0005t0001g0137 a0001c0005t0001g0138 a0001c0005t0001g0139 a0001c0005t0001g0140 a0001c0005t0001g0141 a0001c0005t0001g0142 a0001c0005t0001g0143 a0001c0005t0001g0159 a0001c0010t0001g0180 a0001c0012t0001g0234 a0001c0012t0002g0007 a0001c0014t0001g0005 a0001c0018t0001g0037 a0001c0019t0001g0150 a0002c0006t0001g0014 a0002c0006t0001g0049 a0002c0006t0001g0193 a0002c0006t0001g0194 a0002c0006t0001g0195 a0002c0006t0001g0236 a0002c0006t0001g0237 a0002c0006t0001g0238 a0002c0007t0001g0047 a0002c0007t0001g0152 a0002c0007t0001g0161 a0002c0007t0001g0169 a0002c0007t0001g0171 a0002c0007t0001g0172 a0002c0007t0001g0211 a0002c0011t0001g0167 a0002c0011t0001g0170 a0002c0026t0001g0192 a0003c0008t0001g0053 a0003c0008t0001g0218 a0003c0008t0001g0219 a0003c0008t0001g0220 a0004c0009t0001g0029 a0004c0009t0001g0155 a0005c0013t0001g0178 a0005c0013t0001g0197 a0006c0023t0001g0222 a0006c0024t0001g0098 a0007c0015t0001g0014 a0009c0020t0001g0095 a0011c0017t0001g0060	222	434	0.5115	42	c.123 others(61): Show c.1231+3245_1231+3246insCCCCCCCCACTCCAGCCTGGATGACA GAGCAAGACTGTCCCA	MAG	ENSG00000105695.15	transcript	ENST00000392213.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAG_chr19_35287161_35318807	35305918	G G	GCACTCCA others(35): Show GCACTCCAGCCTGGATGACAGAGCAAGACTGTCCCACCCCCCT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18965.hp2 NA18971.hp2 others(6): Show NA18612.hp1 NA18965.hp2 NA18971.hp2 NA18981.hp2 NA19009.hp1 NA19068.hp1 NA19078.hp1 NA19085.hp1 NA19086.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0021 a0001c0004t0001g0051 a0001c0004t0001g0179 others(2): Show a0001c0004t0001g0021 a0001c0004t0001g0051 a0001c0004t0001g0179 a0001c0004t0001g0198 a0001c0004t0001g0205	9	434	0.0207	42	c.123 others(61): Show c.1231+3245_1231+3246insCCCCCCTCACTCCAGCCTGGATGACA GAGCAAGACTGTCCCA	MAG	ENSG00000105695.15	transcript	ENST00000392213.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAG_chr19_35287161_35318807	35305918	G G	GCACTCCA others(35): Show GCACTCCAGCCTGGATGACAGAGCAAGACTGTCCCACCTCCCC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0122 a0001c0001t0001g0123	2	434	0.0046	42	c.123 others(61): Show c.1231+3245_1231+3246insCCTCCCCCACTCCAGCCTGGATGACA GAGCAAGACTGTCCCA	MAG	ENSG00000105695.15	transcript	ENST00000392213.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAG_chr19_35287161_35318807	35305919	C C	CACTCCAG others(35): Show CACTCCAGCCTGGATGACAGAGCAAGACTGTCCCACCCCCCCA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02083.hp2 HG02129.hp1 others(16): Show HG02071.hp1 HG02083.hp2 HG02129.hp1 HG02165.hp2 HG04184.hp1 NA18939.hp1 NA18944.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18960.hp2 NA18967.hp1 NA18986.hp2 NA18998.hp1 NA19057.hp2 NA19058.hp2 NA19064.hp2 NA19077.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0058 others(9): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0058 a0001c0001t0001g0160 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0003t0001g0024	19	434	0.0438	42	c.123 others(61): Show c.1231+3245_1231+3246insCCCCCCCAACTCCAGCCTGGATGACA GAGCAAGACTGTCCCA	MAG	ENSG00000105695.15	transcript	ENST00000392213.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
MALRD1_chr10_19043801_19739478	19175463	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18947.hp1 HG01081.hp1 NA18947.hp1	a0042 a0058 a0042 a0058	a0042c0090 a0058c0119 a0042c0090 a0058c0119	a0042c0090t0001 a0058c0119t0001 a0042c0090t0001 a0058c0119t0001	a0042c0090t0001g0128 a0058c0119t0001g0010 a0042c0090t0001g0128 a0058c0119t0001g0010	2	152	0.0132	42	c.195 others(59): Show c.1951+155_1951+156insATATATATATATATATATATATATATAT ATATATATATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	14/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19384546	A A	ATATTATA others(35): Show ATATTATATATTATATAGTGTATATAATATAATATTTACTATG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0070 a0070	a0070c0080 a0070c0080	a0070c0080t0001 a0070c0080t0001	a0070c0080t0001g0058 a0070c0080t0001g0058	1	152	0.0066	42	c.444 others(61): Show c.4442-2941_4442-2940insGTATTATATATTATATAGTGTATATA ATATAATATTTACTAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	26/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATAGA others(35): Show TATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	340	0.0029	42	c.191 others(61): Show c.1911+2785_1911+2786insTATAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGA	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(35): Show TATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18970.hp2 HG02970.hp1 NA18970.hp2	a0003 a0007 a0003 a0007	a0003c0003 a0007c0027 a0003c0003 a0007c0027	a0003c0003t0003 a0007c0027t0001 a0003c0003t0003 a0007c0027t0001	a0003c0003t0003g0108 a0007c0027t0001g0252 a0003c0003t0003g0108 a0007c0027t0001g0252	2	340	0.0059	42	c.191 others(61): Show c.1911+2785_1911+2786insTATATAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGA	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(35): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02056.hp2 HG00140.hp1 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0274 a0001c0001t0001g0246 a0001c0001t0001g0274	2	340	0.0059	42	c.191 others(61): Show c.1911+2785_1911+2786insTATATATAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGA	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(35): Show TATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	340	0.0029	42	c.191 others(61): Show c.1911+2785_1911+2786insTATATATATATAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGA	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(35): Show TATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03942.hp2 HG02723.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0303 a0001c0001t0001g0182 a0001c0001t0001g0303	2	340	0.0059	42	c.191 others(61): Show c.1911+2785_1911+2786insTATATATATATATAGAGAGAGAGAGA GAGAGAGAGAGAGAGA	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(35): Show TATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA19005.hp2 NA19084.hp2 NA18953.hp2 NA19005.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0249 a0001c0001t0001g0263 a0001c0001t0001g0238 a0001c0001t0001g0249 a0001c0001t0001g0263	3	340	0.0088	42	c.191 others(61): Show c.1911+2785_1911+2786insTATATATATATATATAGAGAGAGAGA GAGAGAGAGAGAGAGA	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(35): Show TATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	340	0.0029	42	c.191 others(61): Show c.1911+2785_1911+2786insTATATATATATATATATAGAGAGAGA GAGAGAGAGAGAGAGA	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(35): Show TATATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18994.hp1 NA19240.hp1 HG02630.hp1 NA18994.hp1 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0003 a0001c0001t0001 a0004c0005t0003	a0001c0001t0001g0033 a0001c0001t0001g0271 a0004c0005t0003g0009 a0001c0001t0001g0033 a0001c0001t0001g0271 a0004c0005t0003g0009	3	340	0.0088	42	c.191 others(61): Show c.1911+2785_1911+2786insTATATATATATATATATATAGAGAGA GAGAGAGAGAGAGAGA	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(35): Show TATATATATATATATATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	340	0.0029	42	c.191 others(61): Show c.1911+2785_1911+2786insTATATATATATATATATATATATATA TATAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAML3_chr4_139711753_140159184	140074177	A A	AAGAGAGA others(35): Show AAGAGAGAGAGAGAGAGAAAGAAAGAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00741.hp2 HG01081.hp2 others(15): Show HG00408.hp1 HG00741.hp2 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01257.hp2 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG02132.hp2 HG02135.hp1 HG02257.hp1 HG03492.hp2 NA18968.hp2 NA19011.hp2 NA19065.hp1 NA19065.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0004c0006 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 a0001c0001t0033 a0001c0001t0042 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0004t0001 a0001c0004t0002 a0002c0003t0001 a0002c0003t0032 a0004c0006t0004 a0006c0008t0002	a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0002g0037 others(15): Show a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0002g0037 a0001c0001t0021g0134 a0001c0001t0021g0135 a0001c0001t0033g0033 a0001c0001t0042g0119 a0001c0002t0002g0026 a0001c0002t0003g0104 a0001c0002t0007g0076 a0001c0004t0001g0108 a0001c0004t0002g0042 a0001c0004t0002g0062 a0001c0004t0002g0080 a0002c0003t0001g0074 a0002c0003t0032g0048 a0004c0006t0004g0078 a0006c0008t0002g0044	18	152	0.1184	42	c.468 others(61): Show c.468+78682_468+78683insCTTTCTTTCTTTCTTTCTCTTTCTTT CTCTCTCTCTCTCTCT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAN1B1_chr9_137081985_137114183	137102364	C C	CACTGTTG others(35): Show CACTGTTGCAGGAGTACAGGTCGGTGGTGTTACACACATTCAT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	404	0.0025	42	c.125 others(59): Show c.1254+692_1254+693insACTGTTGCAGGAGTACAGGTCGGTGGTG TTACACACATTCAT	MAN1B1	ENSG00000177239.16	transcript	ENST00000371589.9	protein_coding	8/12			chr9	TogoVar
MAN1B1_chr9_137081985_137114183	137103578	C C	CTTGCAGG others(35): Show CTTGCAGGCGTGTGGGTCGGTGGTGTTACACACATTCACACTG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0159 a0001c0001t0003g0159	1	404	0.0025	42	c.125 others(61): Show c.1254+1917_1254+1918insTGGGTCGGTGGTGTTACACACATTCA CACTGTTGCAGGCGTG	MAN1B1	ENSG00000177239.16	transcript	ENST00000371589.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAN1B1_chr9_137081985_137114183	137114088	C C	CGACCCCC others(35): Show CGACCCCCGCCCGCGACCCCCGCCCGGCACCCGCGTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	404	0.0025	42	c.54 others(53): Show c.5497_*5498insGACCCCCGCCCGCGACCCCCGCCCGGCACCCGCG TGCCCCGT	MAN1B1	ENSG00000177239.16	transcript	ENST00000371589.9	protein_coding		4906		chr9	TogoVar
MAN1B1_chr9_137081985_137114183	137114090	A A	ACCCCCCG others(35): Show ACCCCCCGCCCGCGACCCCGCCCGGCACCCGCGTGCCCCGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	404	0.0025	42	c.54 others(53): Show c.5499_*5500insCCCCCCGCCCGCGACCCCGCCCGGCACCCGCGTG CCCCGTGA	MAN1B1	ENSG00000177239.16	transcript	ENST00000371589.9	protein_coding		4908		chr9	TogoVar
MAN1B1_chr9_137081985_137114183	137114131	A A	ACCCCCGC others(35): Show ACCCCCGCCCGCGACCCCGCCCGGCACCCGCGTGCCCCGCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 NA18956.hp1 HG02145.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0001g0220 a0001c0001t0001g0225	2	404	0.0050	42	c.55 others(53): Show c.5540_*5541insCCCCCGCCCGCGACCCCGCCCGGCACCCGCGTGC CCCGCGAC	MAN1B1	ENSG00000177239.16	transcript	ENST00000371589.9	protein_coding		4949		chr9	TogoVar
MAN1B1_chr9_137081985_137114183	137114144	A A	ACCCCGCC others(35): Show ACCCCGCCCGGCACCCGCGTGCCCCGCGACCCCCGCCCGCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	404	0.0025	42	c.55 others(53): Show c.5553_*5554insCCCCGCCCGGCACCCGCGTGCCCCGCGACCCCCG CCCGCGAC	MAN1B1	ENSG00000177239.16	transcript	ENST00000371589.9	protein_coding		4962		chr9	TogoVar
MAP2K1_chr15_66381912_66496544	66420719	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01243.hp2 HG00738.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0027 a0001c0001t0001g0039	2	372	0.0054	42	c.81- others(59): Show c.81-14305_81-14304insATATATATATATATATATATATATATAT ATATATATATGTAT	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(35): Show ATATATATATATATATATATATATATATATATATGTATATATG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0042 a0001c0001t0004g0042	1	372	0.0027	42	c.81- others(59): Show c.81-14305_81-14304insATATATATATATATATATATATATATAT ATATGTATATATGT	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(35): Show ATATATATATATATATATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0360 a0001c0001t0001g0360	1	372	0.0027	42	c.81- others(59): Show c.81-14305_81-14304insATATATATATATATATATATATATATAT GTGTGTGTGTGTGT	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(35): Show GACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02165.hp2 HG02559.hp1 others(1): Show HG01123.hp1 HG02165.hp2 HG02559.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0136 a0001c0001t0001g0229 others(1): Show a0001c0001t0001g0106 a0001c0001t0001g0136 a0001c0001t0001g0229 a0001c0001t0001g0231	4	372	0.0108	42	c.569 others(61): Show c.569-12031_569-12030insCACACACACACACACACACACACACA CACACACACACACACA	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(35): Show CACACACACACACACACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG01255.hp2 others(6): Show HG00558.hp2 HG00621.hp1 HG01255.hp2 HG03239.hp1 NA18953.hp1 NA18968.hp2 NA18973.hp2 NA19057.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0064 others(6): Show a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0064 a0001c0001t0002g0071 a0001c0001t0002g0079 a0001c0001t0002g0090 a0001c0001t0002g0094 a0001c0001t0002g0149 a0001c0001t0007g0114	9	372	0.0242	42	c.569 others(61): Show c.569-12031_569-12030insCACACACACACACACACACACACACA CACACACACACACATA	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67575918	T T	TTCTTTCT others(35): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03130.hp1 HG02258.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0148 a0001c0001t0002g0131 a0001c0001t0002g0148	2	278	0.0072	42	c.253 others(59): Show c.253-4835_253-4834insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP3K13_chr3_185358136_185494094	185454968	T T	TATATATG others(35): Show TATATATGATATATATATGAGATATATATATGATATATATGAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02922.hp1 HG03471.hp2 HG02055.hp1 HG02922.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0048 a0001c0001t0002 a0001c0001t0009 a0001c0001t0048	a0001c0001t0002g0107 a0001c0001t0009g0108 a0001c0001t0048g0183 a0001c0001t0002g0107 a0001c0001t0009g0108 a0001c0001t0048g0183	3	278	0.0108	42	c.127 others(61): Show c.1278+3579_1278+3580insGATATATATATGAGATATATATATGA TATATATGAGATATAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185455435	A A	ATATATAT others(35): Show ATATATATATGAGATATATATCATATATATGAGATATATACAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0002 a0001c0018t0002	a0001c0018t0002g0206 a0001c0018t0002g0206	1	278	0.0036	42	c.127 others(61): Show c.1278+4041_1278+4082dupTATATATATGAGATATATATCATATA TATGAGATATATACAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185455834	T T	TATATATG others(35): Show TATATATGAGATATATATGATATATATATGAGATATAGATGAG	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA19057.hp1 NA18941.hp2 NA19057.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0097 a0001c0007t0001g0098 a0001c0007t0001g0097 a0001c0007t0001g0098	2	278	0.0072	42	c.127 others(61): Show c.1278+4445_1278+4446insGAGATATATATGATATATATATGAGA TATAGATGAGATATAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K15_chrX_19355059_19520508	19478117	A A	AGAGAGGG others(35): Show AGAGAGGGAGAGAGGGGGAGAGGGGGAGAGAGGGGGAGAGAGG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	163	0.0061	42	c.525 others(59): Show c.525+8364_525+8365insCCTCTCTCCCCCTCTCTCCCCCTCTCCC CCTCTCTCCCTCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19478131	A A	AGAGGGGG others(35): Show AGAGGGGGAGAGAGGGGGGAGAGAGGGGGAGAGAGGGGGAGAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0128 a0002c0003t0003g0128	1	163	0.0061	42	c.525 others(59): Show c.525+8350_525+8351insCTCTCCCCCTCTCTCCCCCTCTCTCCCC CCTCTCTCCCCCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar

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