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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MARCHF5_chr10_92286167_92358964	92289798	T T	TAAATGTA others(36): Show TAAATGTATTATATATTATATAATACATATGTATTATATATTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02622.hp2 HG02723.hp2 HG02572.hp2 HG02622.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0069 a0001c0001t0018g0070 a0001c0001t0018g0071 a0001c0001t0018g0069 a0001c0001t0018g0070 a0001c0001t0018g0071	3	306	0.0098	43	c.-16 others(54): Show c.-1697_-1696insAAATGTATTATATATTATATAATACATATGTATT ATATATTAC		MARCHF5	ENSG00000198060.10	transcript	ENST00000358935.3	protein_coding					1368		chr10	TogoVar
MARS1_chr12_57483068_57521652	57493782	T T	TTATATAT others(36): Show TTATATATTATAATATATTATATATTATATATTATATTATATAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp2 HG02809.hp1 others(1): Show HG02055.hp2 HG02572.hp2 HG02809.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 others(1): Show a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0228	4	288	0.0139	43	c.770 others(60): Show c.770+3149_770+3150insATATATTATATATTATATATTATATTAT ATAATATATATTATA		MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20					INFO_REALIGN_3_PRIME	chr12	TogoVar
MASP1_chr3_187212282_187296737	187292543	T T	TAAAAAAA others(36): Show TAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAGATAAATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	384	0.0026	43	c.-91 others(52): Show c.-912_-911insTTTATATTTATCTTTTTTATTTTTTTTTTTTTTTTT TTTTTTT		MASP1	ENSG00000127241.18	transcript	ENST00000337774.10	protein_coding					807		chr3	TogoVar
MASP1_chr3_187229082_187296737	187292543	T T	TAAAAAAA others(36): Show TAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAGATAAATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	400	0.0025	43	c.-91 others(52): Show c.-912_-911insTTTATATTTATCTTTTTTATTTTTTTTTTTTTTTTT TTTTTTT		MASP1	ENSG00000127241.18	transcript	ENST00000296280.11	protein_coding					807		chr3	TogoVar
MATR3_chr5_139288740_139336677	139295772	C C	CAGTTGCA others(36): Show CAGTTGCAAATAGTAGCAGTGCTGTCAGTGTGGTCTACAGAGGT	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	282	0.0036	43	c.-17 others(62): Show c.-178+1968_-178+2010dupAGTTGCAAATAGTAGCAGTGCTGTCA GTGTGGTCTACAGAGGT		MATR3	ENSG00000015479.20	transcript	ENST00000394805.8	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr5	TogoVar
MAX_chr14_65070127_65107517	65092284	A A	ACCCCCCC others(36): Show ACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	382	0.0026	43	c.171 others(60): Show c.171+1423_171+1424insGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGG		MAX	ENSG00000125952.21	transcript	ENST00000358664.9	protein_coding	3/4						chr14	TogoVar
MBD5_chr2_148016091_148521971	148288399	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0163 a0001c0001t0026g0163	1	188	0.0053	43	c.-67 others(64): Show c.-679-53800_-679-53799insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA		MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
MBNL2_chr13_97217333_97399120	97291900	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	254	0.0039	43	c.174 others(62): Show c.174+15508_174+15509insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA		MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
MBP_chr18_76973833_77137783	76975154	C C	CCTTTTCT others(36): Show CCTTTTCTTTTCTTTTCTTCTTTTCTTTTCTTTTCTTTTCTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01099.hp1 HG01496.hp2 others(13): Show HG01074.hp1 HG01099.hp1 HG01496.hp2 HG01952.hp1 HG01978.hp1 HG01993.hp1 HG02040.hp1 HG02071.hp1 HG02818.hp2 HG04228.hp1 NA18947.hp2 NA18952.hp1 NA18995.hp1 NA19006.hp2 NA19079.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0012 a0001c0002t0020 a0001c0002t0021 a0001c0002t0028 a0002c0005t0001	a0001c0001t0001g0014 a0001c0001t0001g0157 a0001c0002t0001g0127 others(13): Show a0001c0001t0001g0014 a0001c0001t0001g0157 a0001c0002t0001g0127 a0001c0002t0001g0136 a0001c0002t0001g0155 a0001c0002t0001g0185 a0001c0002t0001g0192 a0001c0002t0002g0279 a0001c0002t0002g0287 a0001c0002t0002g0296 a0001c0002t0007g0345 a0001c0002t0012g0197 a0001c0002t0020g0244 a0001c0002t0021g0293 a0001c0002t0028g0386 a0002c0005t0001g0126	16	396	0.0404	43	c.52 others(54): Show c.5272_*5273insAAAAGAAAAGAAAAGAAAAGAAAAGAAGAAAAGA AAAGAAAAG		MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding					3678		chr18	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0131 a0001c0001t0131	a0001c0001t0131g0206 a0001c0001t0131g0206	1	340	0.0029	43	c.41 others(54): Show c.4153_*4154insATATATATATATATATATATATATATATATATTT TTTTTTTTT		MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding					1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(36): Show AAAAAAAAATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0015 a0001c0002t0010g0015	1	340	0.0029	43	c.41 others(54): Show c.4153_*4154insATATATATATATATATATATATATATATATATAT ATTTTTTTT		MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding					1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51190750	A A	AAAAAAAA others(36): Show AAAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0038	1	340	0.0029	43	c.176 others(62): Show c.1768+1452_1768+1453insATATATATATATATATATATATATAT ATATATATATTTTTTTT		MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	16/16						chr17	TogoVar
MBTD1_chr17_51172425_51265049	51190750	A A	AAATATAT others(36): Show AAATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0040 a0001c0001t0044g0040	1	340	0.0029	43	c.176 others(62): Show c.1768+1452_1768+1453insATATATATATATATATATATATATAT ATATATATATATATATT		MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	16/16						chr17	TogoVar
MBTPS2_chrX_21834617_21890423	21888826	A A	ATACACAC others(36): Show ATACACACATATATGTGTGTATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0062	1	308	0.0033	43	c.61 others(54): Show c.6171_*6172insTACACACATATATGTGTGTATATATATATATATA TATATATAT		MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding					3404		chrX	TogoVar
MBTPS2_chrX_21834617_21890423	21888827	T T	TATACACA others(36): Show TATACACACATATATGTGTGTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02258.hp1 HG02630.hp1 HG02257.hp1 HG02258.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0110 a0001c0002t0002g0128 a0001c0002t0002g0133 a0001c0002t0002g0110 a0001c0002t0002g0128 a0001c0002t0002g0133	3	308	0.0097	43	c.61 others(54): Show c.6172_*6173insATACACACATATATGTGTGTATATATATATATAT ATATATATA		MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding					3405		chrX	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	428	0.0023	43	c.-25 others(54): Show c.-2544_-2543insAAAAAAAAAAAAATATATATATATATATATATAT ATATATATA		MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding					2118		chr18	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(36): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	428	0.0023	43	c.-25 others(54): Show c.-2544_-2543insAAAAAAAAAAAAAAAAAAAAATATATATATATAT ATATATATA		MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding					2118		chr18	TogoVar
MDGA1_chr6_37625679_37702883	37698244	C C	CTCTCTCG others(36): Show CTCTCTCGCTCTCTCTCTCTCGCTCTCTCTCTCTCGCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0046 a0001c0002t0018g0046	1	402	0.0025	43	c.-14 others(54): Show c.-1434_-1433insAGAGAGAGCGAGAGAGAGAGAGCGAGAGAGAGAG AGCGAGAGA		MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding					362		chr6	TogoVar
ME1_chr6_83205402_83436051	83237274	A A	AGAAAGAA others(36): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18973.hp2 NA19056.hp1 others(3): Show HG03225.hp1 NA18973.hp2 NA19056.hp1 NA19063.hp1 NA19068.hp2 NA19084.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0001c0001t0003 a0006c0008t0001 a0001c0001t0001 a0001c0001t0003 a0006c0008t0001	a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0195 others(3): Show a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0195 a0001c0001t0003g0240 a0001c0001t0003g0243 a0006c0008t0001g0002	6	272	0.0221	43	c.102 others(60): Show c.1026+442_1026+443insCTTCCTTTCTTTCTTTCTCTTTCTTTCT TTCTTTCTTTCTTTC		ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	9/13						chr6	TogoVar
ME1_chr6_83205402_83436051	83237274	A A	AGAAAGAA others(36): Show AGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02622.hp1 NA20129.hp2 HG02109.hp1 HG02622.hp1 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0012 a0001c0003t0004 a0001c0003t0012	a0001c0003t0004g0017 a0001c0003t0004g0122 a0001c0003t0012g0019 a0001c0003t0004g0017 a0001c0003t0004g0122 a0001c0003t0012g0019	3	272	0.0110	43	c.102 others(60): Show c.1026+442_1026+443insCTTCCTTTCTTTCTTTCTTTCTCTTTCT TTCTTTCTTTCTTTC		ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	9/13						chr6	TogoVar
MED27_chr9_131855112_132084867	131925496	A A	AAATAAAT others(36): Show AAATAAATTAGTATATATTCTGATAATGGAATATTTCCTATCAG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	274	0.0037	43	c.573 others(62): Show c.573+13842_573+13884dupCTGATAGGAAATATTCCATTATCAGA ATATATACTAATTTATT		MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	4/7						chr9	TogoVar
MED27_chr9_131855112_132084867	131966383	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	274	0.0037	43	c.480 others(62): Show c.480-26910_480-26909insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT		MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7						chr9	TogoVar
MEOX1_chr17_43635389_43666922	43636753	C C	CTGAAGAG others(36): Show CTGAAGAGGGAGAGGAGTGCATGGAATGTTCAAAAGAAACCAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG02258.hp1 others(19): Show HG02055.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0012 a0001c0001t0001g0040 a0001c0001t0001g0042 others(19): Show a0001c0001t0001g0012 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0002c0002t0001g0308 a0002c0002t0001g0312 a0002c0002t0001g0314	22	380	0.0579	43	c.51 others(54): Show c.5156_*5157insCTTGGTTTCTTTTGAACATTCCATGCACTCCTCT CCCTCTTCA		MEOX1	ENSG00000005102.14	transcript	ENST00000318579.9	protein_coding					3635		chr17	TogoVar
METTL15_chr11_28103388_28338507	28105067	T T	TATTTAAT others(36): Show TATTTAATTATTTAGTAACATTTAGTACATTAGTACATTAGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG02040.hp1 HG02165.hp1 others(3): Show HG00673.hp2 HG02040.hp1 HG02165.hp1 HG02523.hp1 NA18967.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0007t0003 a0001c0001t0003 a0001c0007t0003	a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 others(3): Show a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0070 a0001c0007t0003g0026	6	332	0.0181	43	c.-36 others(54): Show c.-3639_-3638insATTTAATTATTTAGTAACATTTAGTACATTAGTA CATTAGTAA		METTL15	ENSG00000169519.21	transcript	ENST00000407364.8	protein_coding					3320		chr11	TogoVar
METTL8_chr2_171310746_171438990	171326140	C C	CCTTGCAT others(36): Show CCTTGCATCCTTTGGAAACAAAGTATTAAAAAGATACCCAGTTT	frameshift_variant frameshift_variant	HIGH	HG02280.hp1 HG02647.hp1 HG03540.hp1 HG02280.hp1 HG02647.hp1 HG03540.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0005 a0005c0007t0031 a0005c0007t0005 a0005c0007t0031	a0005c0007t0005g0235 a0005c0007t0031g0018 a0005c0007t0031g0020 a0005c0007t0005g0235 a0005c0007t0031g0018 a0005c0007t0031g0020	3	332	0.0090	43	c.861 others(53): Show c.861-35_868dupAAACTGGGTATCTTTTTAATACTTTGTTTCCAAAG GATGCAAG	p.Gly others(5): Show p.Gly290fs	METTL8	ENSG00000123600.21	transcript	ENST00000375258.9	protein_coding	8/10	988/9770	868/1224	290/407			chr2	TogoVar
MFGE8_chr15_88893683_88918379	88913993	T T	TAAAAAAA others(36): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0185 a0001c0002t0002g0185	1	436	0.0023	43	c.-67 others(52): Show c.-675_-674insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		MFGE8	ENSG00000140545.16	transcript	ENST00000268150.13	protein_coding					615		chr15	TogoVar
MFSD10_chr4_2925567_2939825	2938032	T T	TCCCCCCC others(36): Show TCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	422	0.0024	43	c.-32 others(54): Show c.-3286_-3285insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGG		MFSD10	ENSG00000109736.15	transcript	ENST00000355443.9	protein_coding					3208		chr4	TogoVar
MFSD2B_chr2_24005085_24031775	24005613	G G	GTTACTGC others(36): Show GTTACTGCATTCCAGCATGAACAACACAGGGAAAACTTGTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(182): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18963.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18986.hp1 NA18987.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA19000.hp2 NA19001.hp2 NA19004.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19057.hp2 NA19074.hp2 NA19079.hp2 NA19083.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0006 a0007 a0008 a0009 a0011 a0012	a0001c0001 a0001c0011 a0001c0012 others(9): Show a0001c0001 a0001c0011 a0001c0012 a0001c0013 a0003c0003 a0004c0004 a0006c0006 a0007c0017 a0008c0016 a0009c0007 a0011c0010 a0012c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0011t0006 a0001c0012t0001 a0001c0013t0004 a0003c0003t0002 a0004c0004t0001 a0006c0006t0001 a0007c0017t0007 a0008c0016t0001 a0009c0007t0001 a0011c0010t0001 a0012c0014t0005	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(94): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0055 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0003g0022 a0001c0001t0003g0065 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0004g0018 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0005g0001 a0001c0001t0005g0003 a0001c0001t0006g0054 a0001c0001t0009g0003 a0001c0001t0010g0119 a0001c0001t0011g0008 a0001c0001t0013g0107 a0001c0001t0014g0123 a0001c0001t0015g0001 a0001c0001t0018g0097 a0001c0011t0006g0143 a0001c0012t0001g0101 a0001c0013t0004g0018 a0003c0003t0002g0006 a0004c0004t0001g0044 a0006c0006t0001g0001 a0007c0017t0007g0111 a0008c0016t0001g0001 a0009c0007t0001g0031 a0011c0010t0001g0003 a0012c0014t0005g0003	185	316	0.5854	43	c.-44 others(54): Show c.-4484_-4483insTTACTGCATTCCAGCATGAACAACACAGGGAAAA CTTGTCTCT		MFSD2B	ENSG00000205639.12	transcript	ENST00000338315.6	protein_coding					4471		chr2	TogoVar
MFSD2B_chr2_24005085_24031775	24005613	G G	GTTACTGC others(36): Show GTTACTGCATTGCAGCATGAACAACACAGGGAAAACTTGTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00741.hp1 HG01074.hp2 others(41): Show HG00735.hp2 HG00741.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01168.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG02080.hp2 HG02129.hp1 HG02135.hp1 HG02165.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02818.hp2 HG02886.hp1 HG02970.hp1 HG03139.hp1 HG03490.hp1 HG03492.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18949.hp1 NA18963.hp2 NA18972.hp1 NA18974.hp2 NA18980.hp1 NA18981.hp2 NA18986.hp2 NA19004.hp2 NA20752.hp1 NA20905.hp2	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0001 a0004c0004 a0010c0009 a0001c0001 a0004c0004 a0010c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0004c0004t0001 a0010c0009t0001	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0019 others(22): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0002g0016 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0012g0004 a0004c0004t0001g0042 a0004c0004t0001g0043 a0010c0009t0001g0051	44	316	0.1392	43	c.-44 others(54): Show c.-4484_-4483insTTACTGCATTGCAGCATGAACAACACAGGGAAAA CTTGTCTCT		MFSD2B	ENSG00000205639.12	transcript	ENST00000338315.6	protein_coding					4471		chr2	TogoVar
MGAM2_chr7_142106718_142227324	142114195	A A	AAGGAAGG others(36): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0018 a0018	a0018c0030 a0018c0030	a0018c0030t0002 a0018c0030t0002	a0018c0030t0002g0326 a0018c0030t0002g0326	1	329	0.0030	43	c.-1+ others(58): Show c.-1+2389_-1+2390insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGA		MGAM2	ENSG00000257743.9	transcript	ENST00000477922.4	protein_coding	1/47					INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM2_chr7_142106718_142227324	142114203	A A	AAGGAAGG others(36): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0059 a0059	a0059c0058 a0059c0058	a0059c0058t0001 a0059c0058t0001	a0059c0058t0001g0027 a0059c0058t0001g0027	1	329	0.0030	43	c.-1+ others(58): Show c.-1+2397_-1+2398insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGA		MGAM2	ENSG00000257743.9	transcript	ENST00000477922.4	protein_coding	1/47					INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM2_chr7_142106718_142227324	142114207	A A	AAGGAAGG others(36): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0002 a0009c0011t0002	a0009c0011t0002g0036 a0009c0011t0002g0036	1	329	0.0030	43	c.-1+ others(58): Show c.-1+2401_-1+2402insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGA		MGAM2	ENSG00000257743.9	transcript	ENST00000477922.4	protein_coding	1/47					INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM2_chr7_142106718_142227324	142114223	A A	AGGAAGGA others(36): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGAAG	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0309 a0002c0003t0001g0309	1	329	0.0030	43	c.-1+ others(58): Show c.-1+2416_-1+2417insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAGAAG		MGAM2	ENSG00000257743.9	transcript	ENST00000477922.4	protein_coding	1/47						chr7	TogoVar
MGAM2_chr7_142106718_142227324	142133100	A A	ATTAATTT others(36): Show ATTAATTTATATTTAATATAAATATTTAACATATTTAATAAATG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0006 a0006	a0006c0033 a0006c0033	a0006c0033t0001 a0006c0033t0001	a0006c0033t0001g0155 a0006c0033t0001g0155	1	329	0.0030	43	c.576 others(58): Show c.576-852_576-810dupCATATTTAATAAATGTTAATTTATATTTAA TATAAATATTTAA		MGAM2	ENSG00000257743.9	transcript	ENST00000477922.4	protein_coding	6/47					INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142045613	T T	TATTATAT others(36): Show TATTATATATACATACAATATATGAATATATAATATATATATTA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0028 a0028	a0028c0146 a0028c0146	a0028c0146t0001 a0028c0146t0001	a0028c0146t0001g0044 a0028c0146t0001g0044	1	316	0.0032	43	c.249 others(62): Show c.2499-2172_2499-2171insATTATATATACATACAATATATGAAT ATATAATATATATATTA		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70						chr7	TogoVar
MGA_chr15_41655405_41774940	41762461	G G	GTTTTTTT others(36): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	292	0.0034	43	c.789 others(60): Show c.7891+129_7891+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT		MGA	ENSG00000174197.19	transcript	ENST00000703841.1	protein_coding	22/23					INFO_REALIGN_3_PRIME	chr15	TogoVar
MIB1_chr18_21735792_21875953	21860098	C C	CTTTTTTT others(36): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0097 a0001c0001t0028g0097	1	308	0.0033	43	c.288 others(62): Show c.2880+1479_2880+1480insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT		MIB1	ENSG00000101752.13	transcript	ENST00000261537.7	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr18	TogoVar
MIER2_chr19_300573_349796	300985	G G	GACAACAC others(36): Show GACAACACCCAGGGCCGTGACACCAGTGACTGGAGACTGGGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02615.hp2 HG01884.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	2	384	0.0052	43	c.57 others(54): Show c.5704_*5705insTGTCCCAGTCTCCAGTCACTGGTGTCACGGCCCT GGGTGTTGT		MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding					4587		chr19	TogoVar
MIX23_chr3_122354591_122388231	122356134	C C	CTTTTTTT others(36): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01257.hp1 HG01243.hp2 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0007 a0001c0001t0010g0169 a0001c0001t0010g0007 a0001c0001t0010g0169	2	420	0.0048	43	c.37 others(54): Show c.3734_*3735insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA		MIX23	ENSG00000160124.9	transcript	ENST00000291458.9	protein_coding					3456		chr3	TogoVar
MMD2_chr7_4900998_4964187	4945185	T T	TCTTCTTC others(36): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0311 a0001c0001t0004g0311	1	382	0.0026	43	c.47+ others(60): Show c.47+13785_47+13786insGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAG		MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding	1/6						chr7	TogoVar
MMP17_chr12_131823393_131856771	131827365	G G	GGGGGGGG others(36): Show GGGGGGGGGGGGGGGGGAGGGGGGGGGTGGGGGGGGGTGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	398	0.0025	43	c.-11 others(54): Show c.-1130_-1129insGGGGGGGGGGGGGGGGAGGGGGGGGGTGGGGGGG GGTGGGGGT		MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding					1027		chr12	TogoVar
MMP17_chr12_131823393_131856771	131827366	G G	GGGGGGGG others(36): Show GGGGGGGGGGGGGGGGGGGGGGGGGGGGGAGGGGGGGGTGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	398	0.0025	43	c.-11 others(54): Show c.-1129_-1128insGGGGGGGGGGGGGGGGGGGGGGGGGGGGAGGGGG GGGTGGGGT		MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding					1026		chr12	TogoVar
MMP26_chr11_4699784_4997429	4734757	T T	TTTTATAT others(36): Show TTTTATATAAGCAGGGCATAGGCAGAATAGCATCGCATAGCATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp2 HG00642.hp1 others(76): Show HG00099.hp2 HG00621.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01109.hp2 HG01358.hp1 HG01358.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01978.hp2 HG02004.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG06807.hp2 NA18906.hp1 NA18942.hp2 NA18943.hp2 NA18954.hp1 NA18968.hp2 NA18977.hp1 NA19011.hp2 NA19030.hp2 NA19070.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0004 a0001c0008 others(5): Show a0001c0001 a0001c0004 a0001c0008 a0002c0002 a0003c0003 a0004c0007 a0005c0006 a0006c0005	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0008t0001 a0002c0002t0001 a0003c0003t0001 a0004c0007t0001 a0005c0006t0001 a0006c0005t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 others(76): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0002g0003 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0004t0001g0148 a0001c0004t0001g0158 a0001c0004t0001g0162 a0001c0004t0001g0172 a0001c0008t0001g0151 a0002c0002t0001g0062 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0152 a0002c0002t0001g0154 a0002c0002t0001g0187 a0003c0003t0001g0156 a0003c0003t0001g0171 a0004c0007t0001g0157 a0005c0006t0001g0055 a0006c0005t0001g0150	79	206	0.3835	43	c.-21 others(64): Show c.-217+29759_-217+29801dupATATAAGCAGGGCATAGGCAGAAT AGCATCGCATAGCATATTT		MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
MMP26_chr11_4699784_4997429	4734759	T T	CTATATAA others(36): Show CTATATAAGCAGGGCATAGGCAGAATAGCATCGCATAGCATATT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02886.hp2 HG02976.hp1 others(2): Show HG02809.hp1 HG02886.hp2 HG02976.hp1 HG02976.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0137 a0001c0001t0001g0149 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0137 a0001c0001t0001g0149 a0001c0001t0001g0186 a0002c0002t0001g0168	5	206	0.0243	43	c.-21 others(64): Show c.-217+29713_-217+29714insCTATATAAGCAGGGCATAGGCAGA ATAGCATCGCATAGCATAT		MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	1/7						chr11	TogoVar
MMP26_chr11_4699784_4997429	4734790	C C	CGCATAGC others(36): Show CGCATAGCATATTTATATAAGCAGGGCATAGGCAGAATAGCATT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	206	0.0049	43	c.-21 others(64): Show c.-217+29787_-217+29788insTGCATAGCATATTTATATAAGCAG GGCATAGGCAGAATAGCAT		MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
MMP8_chr11_102706796_102729954	102724354	G G	GAATTTTT others(36): Show GAATTTTTGGCGGCAAAGAAAATGCCTGTATGGAAGCACCAGAC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	458	0.0022	43	c.102 others(58): Show c.102+357_102+399dupGTCTGGTGCTTCCATACAGGCATTTTCTTT GCCGCCAAAAATT		MMP8	ENSG00000118113.12	transcript	ENST00000236826.8	protein_coding	1/9						chr11	TogoVar
MMP8_chr11_102706796_102729954	102727024	C C	CCCCCAAA others(36): Show CCCCCAAAAATCAAATCAGTCATTTACACTTCAGTGCGAACAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0011 a0002c0003t0005g0011	1	458	0.0022	43	c.-21 others(54): Show c.-2170_-2169insCCTGTTCGCACTGAAGTGTAAATGACTGATTTGA TTTTTGGGG		MMP8	ENSG00000118113.12	transcript	ENST00000236826.8	protein_coding					2071		chr11	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	414	0.0024	43	c.226 others(60): Show c.226-3489_226-3488insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTT		MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9						chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	414	0.0024	43	c.226 others(60): Show c.226-3489_226-3488insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTT		MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9						chr15	TogoVar
MON1A_chr3_49903873_49934811	49911201	G G	GATAGATA others(36): Show GATAGATAGATAGATAGATAGATAGATAGATAGATGATAGATAC	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA19066.hp1 NA18993.hp2 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	2	262	0.0076	43	c.614 others(58): Show c.614-318_614-317insGTATCTATCATCTATCTATCTATCTATCTA TCTATCTATCTAT		MON1A	ENSG00000164077.15	transcript	ENST00000296473.8	protein_coding	3/5						chr3	TogoVar

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