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
LYSMD3_chr5_90510626_90534584	90514755	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0031	1	410	0.0024	32	c.40 others(43): Show c.4063_*4064insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	LYSMD3	ENSG00000176018.13	transcript	ENST00000315948.11	protein_coding		870		chr5	TogoVar
LYZL2_chr10_30606779_30634753	30611702	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01515.hp2 HG01517.hp1 others(10): Show HG00642.hp1 HG01515.hp2 HG01517.hp1 HG01943.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02572.hp1 HG03654.hp2 NA18960.hp1 NA18972.hp2 NA18974.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0073 a0001c0001t0001g0078 others(9): Show a0001c0001t0001g0012 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0113 a0001c0001t0001g0138 a0001c0001t0001g0236 a0001c0001t0001g0287 a0001c0001t0001g0331 a0001c0001t0001g0355	13	456	0.0285	32	c.25 others(41): Show c.252_*253insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	LYZL2	ENSG00000151033.10	transcript	ENST00000647634.2	protein_coding		76		chr10	TogoVar
MACF1_chr1_39199695_39492138	39307901	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0031 a0031	a0031c0059 a0031c0059	a0031c0059t0002 a0031c0059t0002	a0031c0059t0002g0177 a0031c0059t0002g0177	1	246	0.0041	32	c.279 others(51): Show c.2790-1648_2790-1647insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	23/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACO1_chr1_25425897_25505209	25454468	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	282	0.0036	32	c.473 others(45): Show c.473+87_473+88insATATATATATATATATATATATATATATATAT	MACO1	ENSG00000204178.11	transcript	ENST00000374343.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACO1_chr1_25425897_25505209	25454470	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0120 a0001c0001t0009g0120	1	282	0.0036	32	c.473 others(47): Show c.473+107_473+108insATATATATATATATATATATATATATATAT AT	MACO1	ENSG00000204178.11	transcript	ENST00000374343.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACROD1_chr11_63993558_64171113	64005022	C C	CTTTATTT others(25): Show CTTTATTTATTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	198	0.0051	32	c.548 others(49): Show c.548-4680_548-4679insTAAATAAATAAATAAATAAATAAATAAA TAAA	MACROD1	ENSG00000133315.12	transcript	ENST00000255681.7	protein_coding	4/10			chr11	TogoVar
MACROD2_chr20_13990516_16058197	14230669	C C	CCATATAT others(25): Show CCATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	24	0.0417	32	c.271 others(53): Show c.271+144941_271+144942insCATATATATATATATATATATATA TATATATA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	3/17			chr20	TogoVar
MACROD2_chr20_13990516_16058197	15869238	T T	TATATATA others(25): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0024 a0002c0002t0003g0024	1	24	0.0417	32	c.727 others(49): Show c.727+6413_727+6414insTATATATAGAGAGAGAGAGAGAGAGAGA GAGA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	15876109	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	24	0.0417	32	c.728 others(49): Show c.728-9652_728-9651insATATATATATATATATATATATATATAT GTAT	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROH2A1_chr5_135329381_135404231	135394603	T T	TATTATTA others(25): Show TATTATTACTTTTCTCCTTATTTTTCACTCTAA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	220	0.0046	32	c.-34 others(49): Show c.-34+4458_-34+4459insTTAGAGTGAAAAATAAGGAGAAAAGTAA TAAT	MACROH2A1	ENSG00000113648.17	transcript	ENST00000511689.6	protein_coding	1/8			chr5	TogoVar
MAD1L1_chr7_1810795_2237945	1861546	A A	AGGGACAC others(25): Show AGGGACACTGCTCCGCCTGCCCCCTGGTTGGAG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	264	0.0038	32	c.199 others(53): Show c.1998+36622_1998+36653dupCTCCAACCAGGGGGCAGGCGGAGC AGTGTCCC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1861750	G G	GCCCCCTG others(25): Show GCCCCCTGGTTGGAGGGACACTGCTCCGCCTGC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	264	0.0038	32	c.199 others(53): Show c.1998+36418_1998+36449dupGCAGGCGGAGCAGTGTCCCTCCAA CCAGGGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1923462	C C	CCCCCGCG others(25): Show CCCCCGCGCTCTTCCGCCCCGGCACCCGGGCAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp2 HG01071.hp1 others(25): Show HG00280.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01975.hp1 HG02040.hp1 HG02080.hp2 HG02132.hp1 HG02165.hp1 HG02273.hp2 HG02523.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG04199.hp1 HG04204.hp1 NA18954.hp2 NA18967.hp2 NA18999.hp2 NA19081.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0001t0001 a0001c0001t0002 a0001c0003t0002	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0108 others(25): Show a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0164 a0001c0001t0002g0055 a0001c0001t0002g0103 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0122 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0201 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0239 a0001c0003t0002g0083	28	264	0.1061	32	c.180 others(53): Show c.1807+13224_1807+13225insTTGCCCGGGTGCCGGGGCGGAAGA GCGCGGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAEA_chr4_1284891_1345137	1297454	C C	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp1 HG03225.hp2 others(1): Show HG02717.hp1 HG02818.hp1 HG03225.hp2 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0007 a0001c0003t0001 a0001c0003t0007	a0001c0003t0001g0273 a0001c0003t0001g0276 a0001c0003t0001g0278 others(1): Show a0001c0003t0001g0273 a0001c0003t0001g0276 a0001c0003t0001g0278 a0001c0003t0007g0279	4	388	0.0103	32	c.69+ others(47): Show c.69+7475_69+7476insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1333801	A A	ATGTGCCC others(25): Show ATGTGCCCACCCCTGCACCCACCCCCATGCCCG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02809.hp2 HG01167.hp2 HG02809.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0319 a0001c0006t0001g0320 a0001c0006t0001g0319 a0001c0006t0001g0320	2	388	0.0052	32	c.765 others(47): Show c.765+960_765+961insCATGCCCGTGTGCCCACCCCTGCACCCACC CC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1333822	C C	CCCCCATG others(25): Show CCCCCATGCCCGTGTGCTCACCCCTGCACCCAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02970.hp1 HG03834.hp2 others(1): Show HG02698.hp2 HG02970.hp1 HG03834.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0323 a0001c0002t0001g0042 a0001c0002t0001g0048 others(1): Show a0001c0001t0001g0323 a0001c0002t0001g0042 a0001c0002t0001g0048 a0001c0003t0001g0292	4	388	0.0103	32	c.765 others(47): Show c.765+960_765+961insCATGCCCGTGTGCTCACCCCTGCACCCATC CC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1334037	A A	ACCATGTG others(25): Show ACCATGTGCCCACCCCTGCACCCACCCCCATGC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	388	0.0026	32	c.765 others(49): Show c.765+1180_765+1181insCCACCCCTGCACCCACCCCCATGCCCAT GTGC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1334040	A A	ATGTGCCC others(25): Show ATGTGCCCACCCCTGCACCCACCCCCATGCCCG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00609.hp2 others(33): Show HG00423.hp2 HG00544.hp1 HG00609.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01081.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01358.hp1 HG02083.hp1 HG02135.hp1 HG03490.hp1 HG03492.hp1 HG03704.hp1 HG03834.hp2 HG03942.hp1 NA18939.hp2 NA18940.hp2 NA18962.hp1 NA18969.hp2 NA18981.hp2 NA18982.hp2 NA18988.hp2 NA19002.hp2 NA19010.hp1 NA19012.hp2 NA19067.hp1 NA19077.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0144 a0001c0001t0001g0198 a0001c0001t0001g0201 others(32): Show a0001c0001t0001g0144 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0214 a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0001g0062 a0001c0002t0001g0065 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0078 a0001c0002t0001g0086 a0001c0002t0001g0092 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0172	36	388	0.0928	32	c.765 others(49): Show c.765+1180_765+1181insCCACCCCTGCACCCACCCCCATGCCCGT GTGC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1334046	T T	TCACCCCT others(25): Show TCACCCCTGTACCCACCCCCGTGCCCGTGTGCC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	388	0.0052	32	c.765 others(49): Show c.765+1189_765+1190insTACCCACCCCCGTGCCCGTGTGCCCACC CCTG	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAGEA12_chrX_152728757_152742669	152730009	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG03669.hp2 NA18945.hp1 others(1): Show HG00544.hp1 HG03669.hp2 NA18945.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0003	4	322	0.0124	32	c.-40 others(43): Show c.-4032_-4031insATATATATATATATATATATATATATATATAC	MAGEA12	ENSG00000213401.10	transcript	ENST00000393869.8	protein_coding		3747		chrX	TogoVar
MAGEA4_chrX_151907889_151930170	151912279	T T	TGTGGGGG others(25): Show TGTGGGGGTCTATTAGTCTAGTACCTTGGTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	344	0.0029	32	c.-82 others(41): Show c.-828_-827insGTGGGGGTCTATTAGTCTAGTACCTTGGTCTG	MAGEA4	ENSG00000147381.12	transcript	ENST00000276344.6	protein_coding		609		chrX	TogoVar
MAGEA9B_chrX_149576653_149592459	149591512	C C	CGGAAGGA others(25): Show CGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG02615.hp1 HG02818.hp1 others(2): Show HG00735.hp1 HG02615.hp1 HG02818.hp1 HG02896.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0002c0002t0002 a0001c0001t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0002g0012 a0001c0001t0003g0007 a0001c0001t0003g0021 others(1): Show a0001c0001t0002g0012 a0001c0001t0003g0007 a0001c0001t0003g0021 a0002c0002t0002g0004	5	242	0.0207	32	c.-43 others(43): Show c.-4341_-4340insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	MAGEA9B	ENSG00000267978.6	transcript	ENST00000595065.6	protein_coding		4054		chrX	TogoVar
MAGEC3_chrX_141833316_141902832	141879498	G G	GGGCAGGA others(25): Show GGGCAGGAAGGGGTGGAAAGGGTCGGGGAGGTA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0000 a0002c0001t0000	a0002c0001t0000g0132 a0002c0001t0000g0132	1	298	0.0034	32	c.515 others(46): Show c.515+84_515+115dupAAGGGTCGGGGAGGTAGGCAGGAAGGGGTGG A	MAGEC3	ENSG00000165509.13	transcript	ENST00000298296.1	protein_coding	3/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC3_chrX_141833316_141902832	141879530	A A	AGGCAGGA others(25): Show AGGCAGGAAGGGGTGGAGGGGGCCCAGGAGATG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03453.hp2 HG01175.hp2 HG03453.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0028 a0001c0002 a0006c0028	a0001c0002t0000 a0006c0028t0000 a0001c0002t0000 a0006c0028t0000	a0001c0002t0000g0181 a0006c0028t0000g0203 a0001c0002t0000g0181 a0006c0028t0000g0203	2	298	0.0067	32	c.515 others(47): Show c.515+117_515+148dupGGGGCCCAGGAGATGGGCAGGAAGGGGTGG AG	MAGEC3	ENSG00000165509.13	transcript	ENST00000298296.1	protein_coding	3/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGED4B_chrX_52056827_52074183	52060535	T T	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01993.hp1 HG02293.hp1 others(1): Show HG01257.hp2 HG01993.hp1 HG02293.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0001 a0001c0001t0001g0031	4	216	0.0185	32	c.14 others(43): Show c.1493_*1494insCACACACACACACACACACACACACACACACA	MAGED4B	ENSG00000187243.17	transcript	ENST00000335504.10	protein_coding		1291		chrX	TogoVar
MAGED4_chrX_52179888_52197268	52193536	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 NA19004.hp1 HG02004.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0048 a0001c0001t0001g0002 a0001c0001t0001g0048	2	220	0.0091	32	c.14 others(43): Show c.1470_*1471insACACACACACACACACACACACACACACACAC	MAGED4	ENSG00000154545.17	transcript	ENST00000471932.6	protein_coding		1269		chrX	TogoVar
MAGI1_chr3_65348526_66043918	65395636	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp1 HG03453.hp2 others(1): Show HG00738.hp2 HG01167.hp1 HG03453.hp2 HG03927.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0007 a0001c0001 a0002c0002 a0007c0007	a0001c0001t0001 a0002c0002t0001 a0007c0007t0003 a0001c0001t0001 a0002c0002t0001 a0007c0007t0003	a0001c0001t0001g0075 a0002c0002t0001g0049 a0002c0002t0001g0061 others(1): Show a0001c0001t0001g0075 a0002c0002t0001g0049 a0002c0002t0001g0061 a0007c0007t0003g0062	4	104	0.0385	32	c.220 others(51): Show c.2200-4279_2200-4278insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	13/22			chr3	TogoVar
MAGI1_chr3_65348526_66043918	65819875	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03540.hp2 HG02970.hp2 HG03540.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0006 a0002c0002 a0005c0006	a0002c0002t0010 a0005c0006t0001 a0002c0002t0010 a0005c0006t0001	a0002c0002t0010g0013 a0005c0006t0001g0054 a0002c0002t0010g0013 a0005c0006t0001g0054	2	104	0.0192	32	c.314 others(53): Show c.314-197788_314-197787insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MAGI1_chr3_65348526_66043918	65880908	C C	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03927.hp1 NA19240.hp2 HG02622.hp1 HG03927.hp1 NA19240.hp2	a0002 a0003 a0008 a0002 a0003 a0008	a0002c0002 a0003c0009 a0008c0010 a0002c0002 a0003c0009 a0008c0010	a0002c0002t0001 a0003c0009t0001 a0008c0010t0001 a0002c0002t0001 a0003c0009t0001 a0008c0010t0001	a0002c0002t0001g0087 a0003c0009t0001g0025 a0008c0010t0001g0067 a0002c0002t0001g0087 a0003c0009t0001g0025 a0008c0010t0001g0067	3	104	0.0289	32	c.313 others(53): Show c.313+157087_313+157088insACACACACACACACACACACACAC ACACACAC	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MAGI2_chr7_78012055_79458667	78057977	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0037 a0002c0008t0001g0037	1	40	0.0250	32	c.370 others(53): Show c.3706+20969_3706+20970insTATATATATATATATATATATATA TATATATA	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	21/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	78497742	A A	ATCTGTCT others(25): Show ATCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	40	0.0250	32	c.965 others(49): Show c.965+3834_965+3835insCAGACAGACAGACAGACAGACAGACAGA CAGA	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	5/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	78497746	A A	ATCTGTCT others(25): Show ATCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0040 a0001c0007t0001g0040	1	40	0.0250	32	c.965 others(49): Show c.965+3830_965+3831insCAGACAGACAGACAGACAGACAGACAGA CAGA	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	5/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	78906796	A A	ACACACAT others(25): Show ACACACATACACACATATGTATATATGTGTATG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03209.hp1 HG03225.hp1 others(2): Show HG00741.hp1 HG03209.hp1 HG03225.hp1 HG03486.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0008	a0001c0001t0002 a0001c0002t0001 a0001c0003t0002 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0003t0002 a0002c0008t0001	a0001c0001t0002g0006 a0001c0001t0002g0035 a0001c0002t0001g0028 others(2): Show a0001c0001t0002g0006 a0001c0001t0002g0035 a0001c0002t0001g0028 a0001c0003t0002g0004 a0002c0008t0001g0037	5	40	0.1250	32	c.418 others(53): Show c.418+100262_418+100293dupCATACACATATATACATATGTGTG TATGTGTG	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	2/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	79011924	C C	CCTTCCTT others(25): Show CCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	40	0.0250	32	c.302 others(49): Show c.302-4719_302-4718insAAAGAAAGAAAGAAAGAAAGAAAGGAAG GAAG	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	79136003	G G	GAAAGAGA others(25): Show GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	1	40	0.0250	32	c.302 others(53): Show c.302-128798_302-128797insTTCTTTCTTTCTTTCTTTCTTTCT TTCTCTTT	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	79136040	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0001 a0001c0003t0003g0001	1	40	0.0250	32	c.302 others(53): Show c.302-128835_302-128834insCTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	79367858	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0040 a0001c0007t0001g0040	1	40	0.0250	32	c.301 others(51): Show c.301+85161_301+85162insATATATATATATATATATATATATAT ATATAT	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	79449877	C C	CATATACA others(25): Show CATATACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	40	0.0250	32	c.301 others(49): Show c.301+3142_301+3143insATATATATATATATATATATATATATGT ATAT	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21			chr7	TogoVar
MAJIN_chr11_64933230_64977108	64948602	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	384	0.0026	32	c.350 others(47): Show c.350-815_350-784dupATATATATATATATATATATATATATATAT AT	MAJIN	ENSG00000168070.12	transcript	ENST00000301896.6	protein_coding	6/10			chr11	TogoVar
MAJIN_chr11_64933230_64977108	64948639	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	384	0.0026	32	c.350 others(47): Show c.350-821_350-820insAAAAAATATATATATATATATATATATATA TA	MAJIN	ENSG00000168070.12	transcript	ENST00000301896.6	protein_coding	6/10			chr11	TogoVar
MAK_chr6_10757723_10843539	10815912	G G	GTGTGTGT others(25): Show GTGTGTGTATATGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	2	272	0.0074	32	c.278 others(49): Show c.278+1937_278+1938insTATATATATATATATATATACATATACA CACA	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	4/14			chr6	TogoVar
MAK_chr6_10757723_10843539	10815945	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0238	1	272	0.0037	32	c.278 others(49): Show c.278+1904_278+1905insTTATATATATATATATATATATATATAT ATAT	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	4/14			chr6	TogoVar
MALRD1_chr10_19043801_19739478	19165242	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18965.hp1 NA18971.hp2 others(1): Show HG02451.hp1 NA18965.hp1 NA18971.hp2 NA18988.hp1	a0001 a0002 a0021 others(1): Show a0001 a0002 a0021 a0049	a0001c0003 a0002c0028 a0021c0011 others(1): Show a0001c0003 a0002c0028 a0021c0011 a0049c0077	a0001c0003t0001 a0002c0028t0001 a0021c0011t0002 others(1): Show a0001c0003t0001 a0002c0028t0001 a0021c0011t0002 a0049c0077t0001	a0001c0003t0001g0114 a0002c0028t0001g0101 a0021c0011t0002g0018 others(1): Show a0001c0003t0001g0114 a0002c0028t0001g0101 a0021c0011t0002g0018 a0049c0077t0001g0140	4	152	0.0263	32	c.165 others(49): Show c.1657-371_1657-370insATATATATATATATATATATATATATAT ATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	12/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19175463	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18965.hp2 HG03710.hp1 NA18965.hp2	a0004 a0006 a0004 a0006	a0004c0118 a0006c0004 a0004c0118 a0006c0004	a0004c0118t0001 a0006c0004t0001 a0004c0118t0001 a0006c0004t0001	a0004c0118t0001g0100 a0006c0004t0001g0026 a0004c0118t0001g0100 a0006c0004t0001g0026	2	152	0.0132	32	c.195 others(49): Show c.1951+155_1951+156insATATATATATATATATATATATATATAT ATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	14/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19176366	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0042 a0042	a0042c0090 a0042c0090	a0042c0090t0001 a0042c0090t0001	a0042c0090t0001g0128 a0042c0090t0001g0128	1	152	0.0066	32	c.195 others(51): Show c.1951+1057_1951+1058insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	14/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19238208	T T	TATATGTA others(25): Show TATATGTAATATACATAATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02280.hp1 HG01081.hp1 HG02280.hp1	a0009 a0042 a0009 a0042	a0009c0040 a0042c0090 a0009c0040 a0042c0090	a0009c0040t0002 a0042c0090t0001 a0009c0040t0002 a0042c0090t0001	a0009c0040t0002g0067 a0042c0090t0001g0128 a0009c0040t0002g0067 a0042c0090t0001g0128	2	152	0.0132	32	c.299 others(53): Show c.2992-19393_2992-19362dupATATATTATATATAATATGTAATA TACATAAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19238261	A A	ATATTATA others(25): Show ATATTATATATAATATGTAATATACATAATATG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp2 HG02615.hp2 others(1): Show HG00741.hp1 HG01109.hp2 HG02615.hp2 HG02717.hp2	a0007 a0016 a0046 others(1): Show a0007 a0016 a0046 a0051	a0007c0008 a0016c0038 a0046c0035 others(1): Show a0007c0008 a0016c0038 a0046c0035 a0051c0037	a0007c0008t0001 a0016c0038t0001 a0046c0035t0001 others(1): Show a0007c0008t0001 a0016c0038t0001 a0046c0035t0001 a0051c0037t0001	a0007c0008t0001g0061 a0016c0038t0001g0120 a0046c0035t0001g0126 others(1): Show a0007c0008t0001g0061 a0016c0038t0001g0120 a0046c0035t0001g0126 a0051c0037t0001g0121	4	152	0.0263	32	c.299 others(53): Show c.2992-19392_2992-19391insGTATTATATATAATATGTAATATA CATAATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19238312	A A	ATAGACAT others(25): Show ATAGACATAATATATATTATATATAATATGTAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA18981.hp2 NA18988.hp1 others(1): Show HG01123.hp1 NA18981.hp2 NA18988.hp1 NA19088.hp1	a0001 a0006 a0025 a0001 a0006 a0025	a0001c0003 a0006c0024 a0025c0013 a0001c0003 a0006c0024 a0025c0013	a0001c0003t0001 a0006c0024t0001 a0025c0013t0001 a0001c0003t0001 a0006c0024t0001 a0025c0013t0001	a0001c0003t0001g0114 a0001c0003t0001g0115 a0006c0024t0001g0127 others(1): Show a0001c0003t0001g0114 a0001c0003t0001g0115 a0006c0024t0001g0127 a0025c0013t0001g0118	4	152	0.0263	32	c.299 others(53): Show c.2992-19370_2992-19369insGACATAATATATATTATATATAAT ATGTATTA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19238312	A A	ATATACAT others(25): Show ATATACATAATATATATTATATATAATATGTAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02071.hp1 HG03669.hp1 others(3): Show HG00544.hp2 HG02071.hp1 HG03669.hp1 NA18947.hp1 NA18965.hp1 NA18965.hp2	a0004 a0006 a0010 others(3): Show a0004 a0006 a0010 a0021 a0026 a0058	a0004c0118 a0006c0004 a0010c0014 others(3): Show a0004c0118 a0006c0004 a0010c0014 a0021c0011 a0026c0062 a0058c0119	a0004c0118t0001 a0006c0004t0001 a0010c0014t0001 others(3): Show a0004c0118t0001 a0006c0004t0001 a0010c0014t0001 a0021c0011t0002 a0026c0062t0001 a0058c0119t0001	a0004c0118t0001g0100 a0006c0004t0001g0035 a0010c0014t0001g0008 others(3): Show a0004c0118t0001g0100 a0006c0004t0001g0035 a0010c0014t0001g0008 a0021c0011t0002g0018 a0026c0062t0001g0111 a0058c0119t0001g0010	6	152	0.0395	32	c.299 others(53): Show c.2992-19362_2992-19361insATATATTATATATAATATGTATTA TACATAAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19306101	G G	GATAGTAT others(25): Show GATAGTATATATATACTATATAGTATATATAGT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0026 a0026	a0026c0063 a0026c0063	a0026c0063t0001 a0026c0063t0001	a0026c0063t0001g0041 a0026c0063t0001g0041	1	152	0.0066	32	c.342 others(53): Show c.3420-17830_3420-17829insATAGTATATATAGTATAGTATATA TATACTAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar

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