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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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
MAML2_chr11_95971598_96348195	96240557	C C	CAACAAAA others(16): Show CAACAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00621.hp2 HG00642.hp1 others(6): Show HG00140.hp2 HG00621.hp2 HG00642.hp1 HG01069.hp2 HG01071.hp2 HG01891.hp1 HG02055.hp2 HG02148.hp2 HG02735.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0012	a0001c0001 a0002c0003 a0003c0004 others(2): Show a0001c0001 a0002c0003 a0003c0004 a0003c0006 a0012c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0047 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0047 a0002c0003t0004 a0003c0004t0006 a0003c0006t0006 a0003c0006t0010 a0012c0017t0002	a0001c0001t0001g0162 a0001c0001t0002g0012 a0001c0001t0047g0228 others(6): Show a0001c0001t0001g0162 a0001c0001t0002g0012 a0001c0001t0047g0228 a0002c0003t0004g0196 a0003c0004t0006g0113 a0003c0006t0006g0099 a0003c0006t0010g0013 a0003c0006t0010g0018 a0012c0017t0002g0058	9	230	0.0391	23	c.513 others(44): Show c.513+100825_513+100826insTTTTTTTTTTTTTTTTTTTTGTT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96299056	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0099 a0003c0006t0006g0099	1	230	0.0044	23	c.513 others(42): Show c.513+42326_513+42327insATATATATATATATATATATATA	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML3_chr4_139711753_140159184	139885932	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0121 a0001c0001t0009g0121	1	152	0.0066	23	c.207 others(42): Show c.2079+3402_2079+3424dupTTTTTTTTTTTTTTTTTTTTTTT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	139943864	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA19065.hp2 homoSapiens_chm13v2.hp1 HG00408.hp1 NA19065.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0033 a0001c0002t0001 a0002c0003t0001 a0001c0001t0033 a0001c0002t0001 a0002c0003t0001	a0001c0001t0033g0033 a0001c0002t0001g0020 a0002c0003t0001g0074 a0001c0001t0033g0033 a0001c0002t0001g0020 a0002c0003t0001g0074	3	152	0.0197	23	c.469 others(42): Show c.469-52920_469-52898dupAAAAAAAAAAAAAAAAAAAAAAA	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAMLD1_chrX_150358317_150519173	150481964	A A	AAAAGAAA others(16): Show AAAAGAAAGAAAGAAAGAAAAAAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01168.hp1 NA20805.hp1 HG00741.hp1 HG01168.hp1 NA20805.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0125 a0004c0004t0003g0149 a0004c0004t0003g0150 a0004c0004t0003g0125 a0004c0004t0003g0149 a0004c0004t0003g0150	3	226	0.0133	23	c.204 others(42): Show c.2040+8181_2040+8182insAAAGAAAGAAAGAAAGAAAGAAA	MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAN1C1_chr1_25611791_25789450	25656095	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03209.hp1 HG02486.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0228 a0001c0003t0001g0243 a0001c0002t0001g0228 a0001c0003t0001g0243	2	250	0.0080	23	c.541 others(42): Show c.541-30323_541-30322insTTTTTTTTTTTTTTTTTTTTTTT	MAN1C1	ENSG00000117643.16	transcript	ENST00000374332.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN2B1_chr19_12641512_12671742	12649477	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0001 a0009c0007t0001	a0009c0007t0001g0146 a0009c0007t0001g0146	1	380	0.0026	23	c.226 others(38): Show c.2268-50_2268-49insAAAAAAAAAAAAAAAAAAAAAAA	MAN2B1	ENSG00000104774.13	transcript	ENST00000456935.7	protein_coding	18/23			chr19	TogoVar
MAOA_chrX_43651299_43751817	43657120	G G	GTATGAAC others(16): Show GTATGAACTGTGTTTATATATATA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	283	0.0035	23	c.73+ others(36): Show c.73+825_73+847dupGAACTGTGTTTATATATATATAT	MAOA	ENSG00000189221.11	transcript	ENST00000338702.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAP1LC3B2_chr12_116554381_116581606	116557887	C C	CTGAGTAG others(16): Show CTGAGTAGCTGGGACTACAGGCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02615.hp1 HG02615.hp2 others(5): Show HG02280.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02976.hp1 HG03195.hp1 HG03579.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0001c0001t0013 a0001c0001t0015 others(4): Show a0001c0001t0007 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0002c0002t0015 a0002c0002t0034	a0001c0001t0007g0103 a0001c0001t0007g0353 a0001c0001t0013g0369 others(5): Show a0001c0001t0007g0103 a0001c0001t0007g0353 a0001c0001t0013g0369 a0001c0001t0015g0033 a0001c0001t0016g0034 a0001c0001t0021g0036 a0002c0002t0015g0041 a0002c0002t0034g0387	8	446	0.0179	23	c.-16 others(34): Show c.-1648_-1647insTGAGTAGCTGGGACTACAGGCAT	MAP1LC3B2	ENSG00000258102.5	transcript	ENST00000556529.4	protein_coding		1493		chr12	TogoVar
MAP2K4_chr17_12015877_12148828	12138231	A A	AGGTTAGG others(16): Show AGGTTAGGGATGCTGACCCCCTGT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02622.hp1 NA18906.hp2 others(5): Show HG02165.hp2 HG02622.hp1 NA18906.hp2 NA18946.hp1 NA18970.hp1 NA18992.hp2 NA18995.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 others(5): Show a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0157 a0001c0001t0001g0237 a0001c0001t0018g0047	8	322	0.0248	23	c.104 others(42): Show c.1041-1607_1041-1585dupGGTTAGGGATGCTGACCCCCTGT	MAP2K4	ENSG00000065559.15	transcript	ENST00000353533.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAP2K5_chr15_67537703_67812114	67575917	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02572.hp2 HG02683.hp1 HG01106.hp1 HG02572.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0200 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0200	3	278	0.0108	23	c.253 others(40): Show c.253-4835_253-4834insCTTTCTTTCTTTCTTTCTTTCTT	MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67590442	C C	CTCTCTCT others(16): Show CTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18747.hp2 NA20805.hp1 HG00597.hp1 NA18747.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0003c0004t0003 a0001c0001t0003 a0003c0004t0003	a0001c0001t0003g0017 a0001c0001t0003g0057 a0003c0004t0003g0061 a0001c0001t0003g0017 a0001c0001t0003g0057 a0003c0004t0003g0061	3	278	0.0108	23	c.432 others(40): Show c.432-2484_432-2483insTCTCTCTCTCTCTCTCTCTCTCT	MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	6/21			chr15	TogoVar
MAP2_chr2_209419047_209739112	209434833	C C	CTCTCTCT others(16): Show CTCTCTCTCTCTATATATGTTATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03130.hp1 HG03195.hp1 others(1): Show HG03041.hp1 HG03130.hp1 HG03195.hp1 NA18522.hp2	a0001 a0007 a0001 a0007	a0001c0003 a0007c0009 a0001c0003 a0007c0009	a0001c0003t0002 a0007c0009t0002 a0001c0003t0002 a0007c0009t0002	a0001c0003t0002g0054 a0001c0003t0002g0055 a0001c0003t0002g0059 others(1): Show a0001c0003t0002g0054 a0001c0003t0002g0055 a0001c0003t0002g0059 a0007c0009t0002g0060	4	148	0.0270	23	c.-22 others(44): Show c.-222+10558_-222+10559insCTCTCTCTCTATATATGTTATAT	MAP2	ENSG00000078018.22	transcript	ENST00000682079.1	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K14_chr17_45258119_45322020	45275868	T T	TCTCCTGC others(16): Show TCTCCTGCCTCAGCCTCCCGAGTA	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0195 a0001c0002t0001g0195	1	336	0.0030	23	c.129 others(42): Show c.1291-1298_1291-1276dupTACTCGGGAGGCTGAGGCAGGAG	MAP3K14	ENSG00000006062.18	transcript	ENST00000344686.8	protein_coding	6/15			chr17	TogoVar
MAP3K15_chrX_19355059_19520508	19477859	G G	GGAGGGGG others(16): Show GGAGGGGGGAGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0000 a0000	a0000c0021 a0000c0021	a0000c0021t0007 a0000c0021t0007	a0000c0021t0007g0054 a0000c0021t0007g0054	1	163	0.0061	23	c.525 others(40): Show c.525+8622_525+8623insTCCCCCCTCCCCCCTCCCCCCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19478121	G G	GGGAGAGA others(16): Show GGGAGAGAGGGGGAGAGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02809.hp1 HG02559.hp1 HG02809.hp1	a0002 a0002	a0002c0003 a0002c0016 a0002c0003 a0002c0016	a0002c0003t0019 a0002c0016t0004 a0002c0003t0019 a0002c0016t0004	a0002c0003t0019g0152 a0002c0016t0004g0014 a0002c0003t0019g0152 a0002c0016t0004g0014	2	163	0.0123	23	c.525 others(40): Show c.525+8360_525+8361insTCCCCCTCTCTCCCCCTCTCTCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0323 a0002c0003t0003g0323	1	334	0.0030	23	c.160 others(42): Show c.160-35376_160-35375insATATATATATATATATATATATT	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(16): Show ATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0088 a0001c0001t0010g0088	1	334	0.0030	23	c.160 others(42): Show c.160-35376_160-35375insATATATATTTTTTTTTTTTTTTT	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(16): Show ATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02970.hp2 HG02735.hp1 HG02970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0003 a0001c0001t0002 a0002c0003t0003	a0001c0001t0002g0023 a0002c0003t0003g0060 a0001c0001t0002g0023 a0002c0003t0003g0060	2	334	0.0060	23	c.160 others(42): Show c.160-35376_160-35375insATATATTTTTTTTTTTTTTTTTT	MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K8_chr10_30429184_30466833	30432976	G G	GAGAGAGA others(16): Show GAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00735.hp1 HG01099.hp1 others(13): Show HG00621.hp1 HG00735.hp1 HG01099.hp1 HG01934.hp1 HG02155.hp2 HG02293.hp2 HG02698.hp2 HG03688.hp2 HG03710.hp2 NA18940.hp2 NA18948.hp2 NA18952.hp2 NA18957.hp1 NA18964.hp1 NA18992.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0096 others(12): Show a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0189 a0001c0001t0002g0092 a0001c0001t0005g0005 a0001c0002t0001g0003 a0001c0002t0001g0007	16	386	0.0415	23	c.-16 others(34): Show c.-1657_-1656insAGAGAGAGAGAGAGAGAGAGAGA	MAP3K8	ENSG00000107968.10	transcript	ENST00000263056.6	protein_coding		1207		chr10	TogoVar
MAP3K8_chr10_30429184_30466833	30432978	G G	GAGAGAGA others(16): Show GAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA19000.hp2 NA19080.hp2 NA18972.hp1 NA19000.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0016 a0001c0001t0001g0088 a0001c0001t0001g0093	3	386	0.0078	23	c.-16 others(34): Show c.-1655_-1654insAGAGAGAGAGAGAGAGAGAGAGA	MAP3K8	ENSG00000107968.10	transcript	ENST00000263056.6	protein_coding		1205		chr10	TogoVar
MAP3K9_chr14_70717526_70814513	70810174	A A	AGTGAGAT others(16): Show AGTGAGATCACCACGCCCACTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0245 a0001c0001t0027g0245	1	374	0.0027	23	c.-10 others(34): Show c.-1004_-1003insGAGAGTGGGCGTGGTGATCTCAC	MAP3K9	ENSG00000006432.16	transcript	ENST00000554752.7	protein_coding		662		chr14	TogoVar
MAP4K1_chr19_38582641_38622953	38590394	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18986.hp2 HG03540.hp1 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0233 a0001c0002t0001g0273 a0001c0002t0001g0233 a0001c0002t0001g0273	2	348	0.0058	23	c.239 others(42): Show c.2397-2578_2397-2577insATATATATATATATTTTTTTTTT	MAP4K1	ENSG00000104814.13	transcript	ENST00000396857.7	protein_coding	30/30			chr19	TogoVar
MAP4K3_chr2_39244266_39442285	39415980	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0134 a0001c0002t0001g0134	1	232	0.0043	23	c.96+ others(40): Show c.96+20911_96+20912insATATATATATATATTTTTTTTTT	MAP4K3	ENSG00000011566.15	transcript	ENST00000263881.8	protein_coding	1/33			chr2	TogoVar
MAP4K3_chr2_39244266_39442285	39415980	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	232	0.0043	23	c.96+ others(40): Show c.96+20911_96+20912insATATATATATATATATTTTTTTT	MAP4K3	ENSG00000011566.15	transcript	ENST00000263881.8	protein_coding	1/33			chr2	TogoVar
MAP4K3_chr2_39244266_39442285	39415980	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0177	1	232	0.0043	23	c.96+ others(40): Show c.96+20911_96+20912insATATATATATATATATATATTTT	MAP4K3	ENSG00000011566.15	transcript	ENST00000263881.8	protein_coding	1/33			chr2	TogoVar
MAP4K4_chr2_101692707_101899690	101785729	T T	TCTCTCTC others(16): Show TCTCTCTCTCCCCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0074 a0001c0001t0010g0074	1	310	0.0032	23	c.124 others(40): Show c.124-4982_124-4981insCCCTCTCTCTCTCCCTCTCTCTC	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP4K4_chr2_101692707_101899690	101797889	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0103 a0001c0001t0003g0103	1	310	0.0032	23	c.180 others(40): Show c.180+7134_180+7135insTTTTTTTTTTTTTTTTTTTTTTT	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	3/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP4_chr3_47845695_48021416	47997326	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01257.hp1 HG01258.hp2 others(9): Show HG00597.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01943.hp1 HG02135.hp1 HG02148.hp2 HG02273.hp1 NA18967.hp2 NA19000.hp2 NA19006.hp1 NA19088.hp1	a0002 a0027 a0028 a0002 a0027 a0028	a0002c0002 a0027c0021 a0028c0016 a0002c0002 a0027c0021 a0028c0016	a0002c0002t0002 a0002c0002t0004 a0027c0021t0002 others(1): Show a0002c0002t0002 a0002c0002t0004 a0027c0021t0002 a0028c0016t0006	a0002c0002t0002g0001 a0002c0002t0002g0010 a0002c0002t0002g0020 others(8): Show a0002c0002t0002g0001 a0002c0002t0002g0010 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0024 a0002c0002t0002g0030 a0002c0002t0002g0039 a0002c0002t0002g0120 a0002c0002t0004g0009 a0027c0021t0002g0011 a0028c0016t0006g0031	12	232	0.0517	23	c.223 others(40): Show c.223+1311_223+1312insTTTTTTTTTTTTTTTTTTTTTTT	MAP4	ENSG00000047849.22	transcript	ENST00000683076.1	protein_coding	2/20			chr3	TogoVar
MAP7D2_chrX_20001713_20121907	20116886	G G	GCGCCGGC others(16): Show GCGCCGGCCGCACAGGCGCACTGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0209 a0002c0002t0010g0209	1	210	0.0048	23	c.-8_ others(28): Show c.-8_-7insGCAGTGCGCCTGTGCGGCCGGCG	MAP7D2	ENSG00000184368.16	transcript	ENST00000379643.10	protein_coding	1/17	8		chrX	TogoVar
MAP7_chr6_136337734_136555422	136414252	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	248	0.0040	23	c.167 others(40): Show c.167-2578_167-2556dupTTTTTTTTTTTTTTTTTTTTTTT	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	2/17			chr6	TogoVar
MAPK14_chr6_36022808_36116236	36066398	G G	GTCTTATA others(16): Show GTCTTATAAAAGAAATGAGGCATT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02280.hp2 HG02486.hp2 others(1): Show HG01361.hp2 HG02280.hp2 HG02486.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 others(1): Show a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184	4	342	0.0117	23	c.306 others(40): Show c.306-6469_306-6468insAAAAGAAATGAGGCATTTCTTAT	MAPK14	ENSG00000112062.12	transcript	ENST00000229794.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr6	TogoVar
MAPK1_chr22_21754657_21872645	21813039	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02129.hp2 HG02015.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0082 a0001c0001t0005g0086 a0001c0001t0005g0082 a0001c0001t0005g0086	2	348	0.0058	23	c.120 others(40): Show c.120-5194_120-5193insTTTTTTTTTTTTTTTTTTTTTTT	MAPK1	ENSG00000100030.15	transcript	ENST00000215832.11	protein_coding	1/8			chr22	TogoVar
MAPK4_chr18_50555087_50736826	50606324	T T	TGGGATTT others(16): Show TGGGATTTTGTCTTTAATACACTA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp2 HG02922.hp2 others(1): Show HG01243.hp2 HG02559.hp2 HG02922.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0008 a0001c0001t0015 a0001c0001t0032 others(1): Show a0001c0001t0008 a0001c0001t0015 a0001c0001t0032 a0001c0010t0014	a0001c0001t0008g0147 a0001c0001t0015g0149 a0001c0001t0032g0148 others(1): Show a0001c0001t0008g0147 a0001c0001t0015g0149 a0001c0001t0032g0148 a0001c0010t0014g0150	4	302	0.0133	23	c.-87 others(44): Show c.-871+46106_-871+46128dupGGATTTTGTCTTTAATACACTAG	MAPK4	ENSG00000141639.12	transcript	ENST00000400384.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
MAPK8IP2_chr22_50595793_50618978	50614903	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 NA18995.hp1 NA19007.hp1 HG03491.hp2 NA18995.hp1 NA19007.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0006 a0001c0003t0004 a0001c0003t0006	a0001c0003t0004g0083 a0001c0003t0004g0085 a0001c0003t0006g0006 a0001c0003t0004g0083 a0001c0003t0004g0085 a0001c0003t0006g0006	3	436	0.0069	23	c.41 others(34): Show c.4124_*4125insAAAAAAAAAAAAAAAAAAAAAAA	MAPK8IP2	ENSG00000008735.14	transcript	ENST00000329492.6	protein_coding		926		chr22	TogoVar
MAPK8_chr10_48301677_48444360	48324503	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03471.hp2 HG03195.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0279 a0001c0001t0003g0281 a0001c0001t0003g0279 a0001c0001t0003g0281	2	306	0.0065	23	c.-50 others(42): Show c.-50+17699_-50+17700insTTTTTTTTTTTTTTTTTTTTTTT	MAPK8	ENSG00000107643.17	transcript	ENST00000374189.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAPKBP1_chr15_41769484_41832855	41786777	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG02300.hp1 others(3): Show HG01257.hp1 HG01258.hp1 HG02300.hp1 HG03239.hp1 HG03490.hp2 HG03492.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0003c0004t0003 a0001c0001t0003 a0003c0004t0003	a0001c0001t0003g0159 a0003c0004t0003g0008 a0003c0004t0003g0011 others(1): Show a0001c0001t0003g0159 a0003c0004t0003g0008 a0003c0004t0003g0011 a0003c0004t0003g0267	6	328	0.0183	23	c.114 others(42): Show c.114+11389_114+11390insAAAAAAAAATATATATATATATA	MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPKBP1_chr15_41769484_41832855	41786777	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0056 a0003c0004t0003g0056	1	328	0.0031	23	c.114 others(42): Show c.114+11389_114+11390insAAAAAAATATATATATATATATA	MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPKBP1_chr15_41769484_41832855	41786777	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0226 a0004c0006t0002g0226	1	328	0.0031	23	c.114 others(42): Show c.114+11389_114+11390insAAAAATATATATATATATATATA	MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPKBP1_chr15_41769484_41832855	41786777	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG02630.hp1 others(3): Show HG01109.hp1 HG01891.hp2 HG02630.hp1 HG03209.hp1 HG03486.hp2 HG03516.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0001c0001 a0007c0011	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0007c0011t0007	a0001c0001t0004g0144 a0001c0001t0005g0033 a0001c0001t0005g0103 others(3): Show a0001c0001t0004g0144 a0001c0001t0005g0033 a0001c0001t0005g0103 a0001c0001t0007g0134 a0001c0001t0013g0040 a0007c0011t0007g0145	6	328	0.0183	23	c.114 others(42): Show c.114+11389_114+11390insAAATATATATATATATATATATA	MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPKBP1_chr15_41769484_41832855	41786777	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0148 a0001c0001t0033g0148	1	328	0.0031	23	c.114 others(42): Show c.114+11389_114+11390insATATATATATATATATATATATA	MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPRE1_chr20_32814954_32855405	32826169	T T	TGTTTTTT others(16): Show TGTTTTTTCGGGTTTTTGTTAGGG	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	386	0.0026	23	c.121 others(38): Show c.121+125_121+126insTTTCGGGTTTTTGTTAGGGGTTT	MAPRE1	ENSG00000101367.9	transcript	ENST00000375571.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
MAPRE1_chr20_32814954_32855405	32829634	A A	ACTAAACA others(16): Show ACTAAACACAGCTTTACAAAGTAG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01346.hp1 HG01433.hp2 others(4): Show HG01123.hp2 HG01346.hp1 HG01433.hp2 HG01981.hp2 HG02109.hp2 HG02148.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0004 a0001c0001t0011	a0001c0001t0004g0006 a0001c0001t0004g0148 a0001c0001t0004g0150 others(2): Show a0001c0001t0004g0006 a0001c0001t0004g0148 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0011g0149	7	386	0.0181	23	c.121 others(40): Show c.121+3587_121+3609dupCTAAACACAGCTTTACAAAGTAG	MAPRE1	ENSG00000101367.9	transcript	ENST00000375571.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
MAPRE2_chr18_35036413_35148470	35064000	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0337 a0001c0001t0001g0337	1	370	0.0027	23	c.123 others(40): Show c.123-6184_123-6162dupAAAAAAAAAAAAAAAAAAAAAAA	MAPRE2	ENSG00000166974.13	transcript	ENST00000300249.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
MAPT_chr17_45889554_46033334	45903839	T T	TTTTTATA others(16): Show TTTTTATATATAATATATTATATA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0132 a0002c0003t0001g0132	1	253	0.0040	23	c.-18 others(40): Show c.-18+9156_-18+9157insTATATATAATATATTATATATTT	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAPT_chr17_45889554_46033334	45903839	T T	TTTTTATA others(16): Show TTTTTATATATTATATATTATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00558.hp2 others(44): Show HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00733.hp2 HG00738.hp1 HG01070.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01192.hp1 HG01255.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01993.hp1 HG02004.hp1 HG02293.hp2 HG02300.hp1 HG02698.hp2 HG02922.hp2 HG03209.hp2 HG03831.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18940.hp2 NA18947.hp2 NA18950.hp2 NA18962.hp2 NA18970.hp1 NA18977.hp1 NA18999.hp1 NA19005.hp2 NA19010.hp1 NA19011.hp2 NA19068.hp1 NA19081.hp2 NA19090.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0003t0001 a0002c0003t0002 a0005c0007t0003	a0001c0001t0001g0042 a0001c0001t0001g0133 a0001c0001t0001g0134 others(44): Show a0001c0001t0001g0042 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0164 a0001c0001t0001g0181 a0001c0001t0002g0142 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0199 a0001c0001t0002g0206 a0001c0001t0003g0144 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0197 a0001c0001t0003g0202 a0001c0001t0005g0160 a0001c0001t0006g0163 a0001c0001t0012g0143 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0140 a0002c0002t0001g0158 a0002c0002t0001g0176 a0002c0002t0001g0183 a0002c0002t0001g0201 a0002c0002t0002g0154 a0002c0002t0003g0041 a0002c0002t0003g0141 a0002c0002t0003g0145 a0002c0002t0003g0147 a0002c0002t0003g0151 a0002c0003t0001g0150 a0002c0003t0001g0177 a0002c0003t0001g0182 a0002c0003t0001g0198 a0002c0003t0002g0146 a0002c0003t0002g0155 a0002c0003t0002g0200 a0005c0007t0003g0203	47	253	0.1858	23	c.-18 others(40): Show c.-18+9156_-18+9157insTATATATTATATATTATATATTT	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAPT_chr17_45889554_46033334	45946615	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01516.hp1 HG01517.hp2 others(1): Show HG01123.hp2 HG01516.hp1 HG01517.hp2 HG04199.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0011 a0003c0004t0004 a0003c0004t0011	a0003c0004t0004g0003 a0003c0004t0004g0009 a0003c0004t0004g0010 others(1): Show a0003c0004t0004g0003 a0003c0004t0004g0009 a0003c0004t0004g0010 a0003c0004t0011g0002	4	253	0.0158	23	c.-17 others(42): Show c.-17-15705_-17-15704insAAAAAAAAAAATATATATATATA	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAPT_chr17_45889554_46033334	45946615	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0012 a0003c0004t0004g0012	1	253	0.0040	23	c.-17 others(42): Show c.-17-15705_-17-15704insAAAAAAAAATATATATATATATA	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAPT_chr17_45889554_46033334	46017440	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0205 a0001c0001t0007g0205	1	253	0.0040	23	c.217 others(42): Show c.2174-1170_2174-1148dupTTTTTTTTTTTTTTTTTTTTTTT	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MARCHF10_chr17_62696314_62813314	62723559	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18986.hp1 HG06807.hp1 NA18986.hp1	a0001 a0017 a0001 a0017	a0001c0001 a0017c0020 a0001c0001 a0017c0020	a0001c0001t0002 a0017c0020t0001 a0001c0001t0002 a0017c0020t0001	a0001c0001t0002g0164 a0017c0020t0001g0087 a0001c0001t0002g0164 a0017c0020t0001g0087	2	280	0.0071	23	c.210 others(40): Show c.2105-963_2105-962insAAAAAAAAAAAAAAAAAAAAAAA	MARCHF10	ENSG00000173838.12	transcript	ENST00000311269.10	protein_coding	7/10			chr17	TogoVar

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