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
LRRC14B_chr5_186495_201334	194146	A A	ACTGTCCT others(93): Show ACTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(163): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp2 HG02280.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG03017.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp2 NA18984.hp2 NA18987.hp1 NA18988.hp1 NA18990.hp2 NA18994.hp1 NA18997.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19068.hp2 NA19077.hp1 NA19078.hp2 NA19083.hp2 NA19085.hp1 NA19088.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(7): Show a0001 a0003 a0004 a0005 a0006 a0008 a0009 a0011 a0012 a0013	a0001c0001 a0001c0002 a0001c0010 others(10): Show a0001c0001 a0001c0002 a0001c0010 a0001c0014 a0003c0005 a0004c0006 a0005c0008 a0006c0007 a0008c0016 a0009c0013 a0011c0015 a0012c0009 a0013c0018	a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 others(25): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 a0001c0001t0022 a0001c0001t0023 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0002t0005 a0001c0002t0011 a0001c0002t0020 a0001c0002t0026 a0001c0002t0027 a0001c0002t0039 a0001c0002t0042 a0001c0010t0002 a0001c0014t0002 a0003c0005t0017 a0003c0005t0021 a0004c0006t0002 a0005c0008t0005 a0006c0007t0002 a0008c0016t0005 a0009c0013t0002 a0011c0015t0002 a0012c0009t0002 a0013c0018t0021	a0001c0001t0002g0002 a0001c0001t0002g0018 a0001c0001t0002g0019 others(35): Show a0001c0001t0002g0002 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0006g0015 a0001c0001t0016g0013 a0001c0001t0022g0002 a0001c0001t0022g0024 a0001c0001t0023g0035 a0001c0001t0045g0002 a0001c0001t0046g0002 a0001c0001t0047g0002 a0001c0001t0048g0002 a0001c0002t0005g0004 a0001c0002t0005g0012 a0001c0002t0005g0026 a0001c0002t0011g0007 a0001c0002t0020g0004 a0001c0002t0026g0007 a0001c0002t0027g0015 a0001c0002t0039g0039 a0001c0002t0042g0004 a0001c0010t0002g0002 a0001c0014t0002g0002 a0003c0005t0017g0010 a0003c0005t0021g0010 a0004c0006t0002g0017 a0005c0008t0005g0014 a0006c0007t0002g0002 a0008c0016t0005g0004 a0009c0013t0002g0002 a0011c0015t0002g0027 a0012c0009t0002g0002 a0013c0018t0021g0010	166	470	0.3532	100	c.900 others(115): Show c.900-519_900-518insTGACATTCTGTCCTGTGGTCTCACTGCCCC CCGCCGTCTGCTTTCTGAGCTGACATTCTGTCCTGTGGTCTCACTGCCCC CCGCCGTCTGCTTTCTGAGC	LRRC14B	ENSG00000185028.4	transcript	ENST00000328278.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
LRRC27_chr10_132327193_132386508	132364409	A A	ACACCCAC others(93): Show ACACCCACAATTACACCCACACTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTCACACCCACCCACACTCACACCCACCCACACTTACAC C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0085 a0001c0003t0007g0085	1	290	0.0035	100	c.129 others(119): Show c.1290-1010_1290-1009insACAATTACACCCACACTTACATCTAC CTCCACACCCACACTCACACCCACCCACACTCACACCCACCCACACTCAC ACCCACCCACACTTACACCCACCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LTBP2_chr14_74493183_74617237	74564037	A A	ATATATAT others(93): Show ATATATATATATTTATATATATATTTATATATATATATTTATATATATAT TTATATATATATTTATATATATATTTATATATATATATTTATATATATAT T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	282	0.0036	100	c.831 others(117): Show c.831-8444_831-8345dupAATATATATATAAATATATATATATAAA TATATATATAAATATATATATAAATATATATATAAATATATATATATAAA TATATATATAAATATATATATA	LTBP2	ENSG00000119681.12	transcript	ENST00000261978.9	protein_coding	3/35			chr14	TogoVar
LYN_chr8_55874835_56019169	55911130	C C	CATACATA others(93): Show CATACATATATATACGTGTATATATATGTACATATATATACACGTATATA TATACATATATATACGTGTATATATATGTACATATATATACACGTATATA T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01496.hp1 HG01928.hp2 others(10): Show HG00735.hp1 HG01496.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG02165.hp2 HG02922.hp2 HG03516.hp1 HG03579.hp1 NA18941.hp2 NA18942.hp1 NA18983.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0038	a0001c0001t0001g0097 a0001c0001t0001g0115 a0001c0001t0001g0201 others(10): Show a0001c0001t0001g0097 a0001c0001t0001g0115 a0001c0001t0001g0201 a0001c0001t0002g0212 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0003g0251 a0001c0001t0038g0190	13	288	0.0451	100	c.-5- others(117): Show c.-5-30672_-5-30671insCATATATATACGTGTATATATATGTACA TATATATACACGTATATATATACATATATATACGTGTATATATATGTACA TATATATACACGTATATATATA	LYN	ENSG00000254087.8	transcript	ENST00000519728.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
LYN_chr8_55874835_56019169	55911142	T T	TACGTGTA others(93): Show TACGTGTATATATATGTACATATATATACACGTATATATATACATATATA TACGTGTATATATATGTACATATATATACACGTATATATATACATATATA C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0223 a0001c0001t0002g0224	2	288	0.0069	100	c.-5- others(117): Show c.-5-30672_-5-30671insCATATATATACGTGTATATATATGTACA TATATATACACGTATATATATACATATATACACGTGTATATATATGTACA TATATATACACGTATATATATA	LYN	ENSG00000254087.8	transcript	ENST00000519728.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
LYPD5_chr19_43790927_43807447	43798137	G G	GCTTCTCC others(93): Show GCTTCTCCCTCAGACCAGGGTCATGCCTCCTCCCTCAGACCAGGGTCATG CCTCCACCCTCAGACCAGGGCCAAATCTTCTCCCTCAGACCAGGGTCAAA C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00544.hp2 others(125): Show HG00140.hp2 HG00438.hp2 HG00544.hp2 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01934.hp2 HG01981.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18954.hp1 NA18957.hp2 NA18959.hp1 NA18965.hp2 NA18967.hp2 NA18974.hp2 NA18978.hp2 NA18979.hp2 NA18984.hp1 NA18994.hp2 NA19003.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19059.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19089.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0002 a0006 a0007 others(1): Show a0002 a0006 a0007 a0008	a0002c0001 a0002c0005 a0006c0012 others(2): Show a0002c0001 a0002c0005 a0006c0012 a0007c0010 a0008c0013	a0002c0001t0002 a0002c0001t0006 a0002c0001t0007 others(7): Show a0002c0001t0002 a0002c0001t0006 a0002c0001t0007 a0002c0001t0021 a0002c0001t0022 a0002c0005t0002 a0002c0005t0011 a0006c0012t0007 a0007c0010t0006 a0008c0013t0002	a0002c0001t0002g0001 a0002c0001t0002g0015 a0002c0001t0002g0019 others(26): Show a0002c0001t0002g0001 a0002c0001t0002g0015 a0002c0001t0002g0019 a0002c0001t0002g0027 a0002c0001t0002g0028 a0002c0001t0002g0053 a0002c0001t0002g0054 a0002c0001t0002g0055 a0002c0001t0002g0056 a0002c0001t0002g0058 a0002c0001t0002g0065 a0002c0001t0006g0010 a0002c0001t0006g0011 a0002c0001t0006g0069 a0002c0001t0007g0012 a0002c0001t0007g0030 a0002c0001t0007g0066 a0002c0001t0007g0076 a0002c0001t0007g0077 a0002c0001t0007g0092 a0002c0001t0007g0093 a0002c0001t0007g0095 a0002c0001t0021g0078 a0002c0001t0022g0071 a0002c0005t0002g0052 a0002c0005t0011g0024 a0006c0012t0007g0094 a0007c0010t0006g0059 a0008c0013t0002g0099	128	428	0.2991	100	c.518 others(115): Show c.518-309_518-308insGTTTGACCCTGGTCTGAGGGAGAAGATTTG GCCCTGGTCTGAGGGTGGAGGCATGACCCTGGTCTGAGGGAGGAGGCATG ACCCTGGTCTGAGGGAGAAG	LYPD5	ENSG00000159871.15	transcript	ENST00000377950.8	protein_coding	4/4			chr19	TogoVar
LYST_chr1_235656041_235871906	235778098	A A	AATATATA others(93): Show AATATATATATATATATATATATATATATATATATATATATATATATATA TTTTTGTAGAGATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0118 a0002c0005t0001g0118	1	236	0.0042	100	c.521 others(117): Show c.5215-791_5215-790insATATATATATATATATATATATATATAT ATATATATATATCTCTACAAAAATATATATATATATATATATATATATAT ATATATATATATATATATATAT	LYST	ENSG00000143669.16	transcript	ENST00000389793.7	protein_coding	16/52			chr1	TogoVar
MACROD2_chr20_13990516_16058197	15021248	A A	ATGTATAC others(93): Show ATGTATACACATACAGGTGTGTGTATACACACACCTGTGTGTATGTATAC ACATACGTGTGTGTATACACACACCTGTGTGTATGTATACACATACGTGT G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0010	1	24	0.0417	100	c.419 others(121): Show c.419-208682_419-208681insTACAGGTGTGTGTATACACACACC TGTGTGTATGTATACACATACGTGTGTGTATACACACACCTGTGTGTATG TATACACATACGTGTGTGTATACACA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MALL_chr2_110078870_110120822	110091176	C C	CGTATATA others(93): Show CGTATATATGTATATATACGTATATATACATATATACGTATATATGTATA TATATATACGTATATATACATATATACGTATATATGTATATATACGTATA T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0048 a0001c0001t0006g0048	1	335	0.0030	100	c.273 others(115): Show c.273+426_273+427insATATACGTATATATACATATATACGTATAT ATGTATATATACGTATATATATATACATATATACGTATATATGTATATAT ACGTATATATACATATATAC	MALL	ENSG00000144063.4	transcript	ENST00000272462.3	protein_coding	2/3			chr2	TogoVar
MAN1A2_chr1_117362449_117533872	117429537	C C	CCCCCCAC others(93): Show CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACC CCCCCCACCTCCCTCCCAGAAGGGGCGGCTGGCCGGGCAGGGGGGCCGAC A	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0183 a0001c0001t0183	a0001c0001t0183g0254 a0001c0001t0183g0254	1	370	0.0027	100	c.855 others(117): Show c.855+8932_855+8933insCGACCCCCCCCACCTCCCTCCCAGAAGG GGCGGCTGGCCGGGCAGGGGGGCCGACACCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGC	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117429537	C C	CCCCCCAC others(93): Show CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACC CCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGGGGGGCCGAC A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01256.hp2 HG01358.hp2 others(40): Show HG00597.hp2 HG01256.hp2 HG01358.hp2 HG01516.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp2 HG02055.hp1 HG02145.hp2 HG02293.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02723.hp2 HG02886.hp2 HG02965.hp1 HG03041.hp1 HG03209.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG04115.hp2 NA18522.hp1 NA18906.hp2 NA18948.hp2 NA18952.hp2 NA18955.hp1 NA18967.hp2 NA18970.hp2 NA19003.hp2 NA19065.hp1 NA19074.hp1 NA19082.hp2 NA19087.hp2 NA19240.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0005 a0001c0001 a0001c0004 a0002c0005	a0001c0001t0017 a0001c0001t0055 a0001c0001t0056 others(34): Show a0001c0001t0017 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0124 a0001c0001t0143 a0001c0001t0145 a0001c0001t0147 a0001c0001t0151 a0001c0001t0152 a0001c0001t0154 a0001c0001t0156 a0001c0001t0157 a0001c0001t0158 a0001c0001t0159 a0001c0001t0161 a0001c0001t0162 a0001c0001t0163 a0001c0001t0164 a0001c0001t0165 a0001c0001t0166 a0001c0001t0167 a0001c0001t0168 a0001c0001t0169 a0001c0001t0170 a0001c0001t0171 a0001c0001t0172 a0001c0001t0177 a0001c0001t0182 a0001c0001t0184 a0001c0001t0185 a0001c0001t0186 a0001c0001t0212 a0001c0001t0213 a0001c0004t0176 a0002c0005t0146	a0001c0001t0017g0232 a0001c0001t0017g0246 a0001c0001t0017g0249 others(40): Show a0001c0001t0017g0232 a0001c0001t0017g0246 a0001c0001t0017g0249 a0001c0001t0017g0251 a0001c0001t0055g0220 a0001c0001t0055g0221 a0001c0001t0056g0255 a0001c0001t0056g0259 a0001c0001t0057g0250 a0001c0001t0057g0261 a0001c0001t0058g0226 a0001c0001t0124g0102 a0001c0001t0143g0225 a0001c0001t0145g0218 a0001c0001t0147g0223 a0001c0001t0151g0219 a0001c0001t0152g0217 a0001c0001t0154g0242 a0001c0001t0156g0260 a0001c0001t0157g0258 a0001c0001t0158g0244 a0001c0001t0159g0365 a0001c0001t0161g0262 a0001c0001t0162g0256 a0001c0001t0163g0364 a0001c0001t0164g0236 a0001c0001t0165g0245 a0001c0001t0166g0264 a0001c0001t0167g0238 a0001c0001t0168g0243 a0001c0001t0169g0248 a0001c0001t0170g0231 a0001c0001t0171g0234 a0001c0001t0172g0230 a0001c0001t0177g0235 a0001c0001t0182g0229 a0001c0001t0184g0004 a0001c0001t0185g0004 a0001c0001t0186g0247 a0001c0001t0212g0253 a0001c0001t0213g0216 a0001c0004t0176g0228 a0002c0005t0146g0224	43	370	0.1162	100	c.855 others(117): Show c.855+8932_855+8933insCGACCCCCCCCACCTCCCTCCCAGACGG GGCGGCTGGCCGGGCAGGGGGGCCGACACCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGC	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117429537	C C	CCCCCCAC others(93): Show CCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACC CCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCCGAC A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02896.hp1 HG02630.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0126 a0001c0001t0138 a0001c0001t0126 a0001c0001t0138	a0001c0001t0126g0100 a0001c0001t0138g0068 a0001c0001t0126g0100 a0001c0001t0138g0068	2	370	0.0054	100	c.855 others(117): Show c.855+8903_855+8904insTGGACGGGGCGGCTGGCCGGGCGGGGGG CCGACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGG GCCGACACCCCCACCTCCCTCC	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117429537	C C	CCCCCCAC others(93): Show CCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACC CCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGGGGGGCCGAC A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp1 HG00738.hp2 others(37): Show HG00597.hp1 HG00639.hp1 HG00738.hp2 HG00741.hp2 HG01346.hp1 HG01884.hp2 HG02015.hp2 HG02083.hp1 HG02258.hp1 HG02572.hp1 HG02622.hp1 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03017.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03491.hp2 HG03492.hp1 HG03834.hp2 HG04199.hp2 NA18522.hp2 NA18944.hp1 NA18948.hp1 NA18949.hp2 NA18957.hp1 NA18968.hp1 NA18979.hp2 NA18993.hp2 NA19002.hp2 NA19007.hp1 NA19010.hp1 NA19072.hp1 NA19078.hp2 NA19079.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 others(31): Show a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0069 a0001c0001t0074 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0001t0125 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0133 a0001c0001t0134 a0001c0001t0137 a0001c0001t0139 a0001c0003t0117 a0001c0003t0118	a0001c0001t0045g0064 a0001c0001t0045g0088 a0001c0001t0046g0098 others(37): Show a0001c0001t0045g0064 a0001c0001t0045g0088 a0001c0001t0046g0098 a0001c0001t0047g0057 a0001c0001t0047g0058 a0001c0001t0049g0066 a0001c0001t0049g0072 a0001c0001t0050g0092 a0001c0001t0050g0101 a0001c0001t0051g0062 a0001c0001t0052g0084 a0001c0001t0052g0094 a0001c0001t0053g0076 a0001c0001t0053g0082 a0001c0001t0054g0063 a0001c0001t0069g0038 a0001c0001t0074g0086 a0001c0001t0112g0073 a0001c0001t0113g0075 a0001c0001t0114g0061 a0001c0001t0115g0080 a0001c0001t0116g0074 a0001c0001t0119g0091 a0001c0001t0120g0069 a0001c0001t0121g0090 a0001c0001t0122g0104 a0001c0001t0123g0093 a0001c0001t0125g0096 a0001c0001t0127g0078 a0001c0001t0128g0060 a0001c0001t0129g0071 a0001c0001t0130g0079 a0001c0001t0131g0059 a0001c0001t0132g0083 a0001c0001t0133g0095 a0001c0001t0134g0081 a0001c0001t0137g0103 a0001c0001t0139g0087 a0001c0003t0117g0106 a0001c0003t0118g0105	40	370	0.1081	100	c.855 others(117): Show c.855+8903_855+8904insTGGACGGGGCGGCTGGCCGGGCGGGGGG CCGACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGGGGG GCCGACACCCCCACCTCCCTCC	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN2B2_chr4_6570189_6628362	6579222	C C	CCACCACC others(93): Show CCACCACCACCATCACCATCACCACCACCATCACCACCATCACCATCACC ACCATCACCACCACCATCACCATCACCACCACCATCACCACCACCACCCT T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01261.hp2 HG01358.hp1 HG00140.hp1 HG01261.hp2 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0002 a0002c0002t0001 a0002c0004t0002	a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0004t0002g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0004t0002g0214	3	362	0.0083	100	c.391 others(115): Show c.391+732_391+733insCCATCACCATCACCACCACCATCACCACCA TCACCATCACCACCATCACCACCACCATCACCATCACCACCACCATCACC ACCACCACCCTTCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6611558	A A	ATCTTTTC others(93): Show ATCTTTTCCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCA G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0010 a0003c0007t0010	a0003c0007t0010g0042 a0003c0007t0010g0042	1	362	0.0028	100	c.256 others(117): Show c.2563+294_2563+295insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCG GACTGCAGTCTTTTCCTTTCTT	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP2_chr2_209419047_209739112	209435948	T T	TATATATA others(93): Show TATATATACAGTATATATTATATATAATATATACAGTATATATTATATAT AATATATACAGTATATATTATATATAATATATACAGTATATATTATATAT A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01192.hp2 HG01993.hp2 others(8): Show HG01109.hp1 HG01192.hp2 HG01993.hp2 HG02257.hp2 HG03710.hp2 NA18954.hp2 NA19007.hp2 NA19079.hp2 NA19083.hp2 NA19088.hp2 NA20300.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0018 a0001c0001 a0006c0018	a0001c0001t0001 a0001c0001t0010 a0006c0018t0001 a0001c0001t0001 a0001c0001t0010 a0006c0018t0001	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0105 others(8): Show a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0010g0116 a0006c0018t0001g0123	11	148	0.0743	100	c.-22 others(121): Show c.-222+11720_-222+11721insTAATATATACAGTATATATTATAT ATAATATATACAGTATATATTATATATAATATATACAGTATATATTATAT ATAATATATACAGTATATATTATATA	MAP2	ENSG00000078018.22	transcript	ENST00000682079.1	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP2_chr2_209419047_209739112	209435998	T T	TATATATA others(93): Show TATATATACAGTATATATTATATATAATATATACAGTATATATTATATAT AATATATACAGTATATATTATATATAATATATACAGTATATATTATATAT A	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0024	a0002c0002t0024g0121 a0002c0002t0024g0121	1	148	0.0068	100	c.-22 others(121): Show c.-222+11748_-222+11749insTATATACAGTATATATTATATATA ATATATACAGTATATATTATATATAATATATACAGTATATATTATATATA ATATATACAGTATATATTATATATAA	MAP2	ENSG00000078018.22	transcript	ENST00000682079.1	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K13_chr3_185358136_185494094	185454010	T T	TATATATG others(93): Show TATATATGATACATATATATGAGATATATATATGATACATATATATGAGA TATATATATGATACATATATATGAGATATATATATGATACATATATATGA G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG04115.hp1 HG01099.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0055 a0001c0002t0004 a0001c0002t0055	a0001c0002t0004g0246 a0001c0002t0055g0201 a0001c0002t0004g0246 a0001c0002t0055g0201	2	278	0.0072	100	c.127 others(119): Show c.1278+2621_1278+2622insGATACATATATATGAGATATATATAT GATACATATATATGAGATATATATATGATACATATATATGAGATATATAT ATGATACATATATATGAGATATAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K15_chrX_19355059_19520508	19514736	T T	TAGGGGGA others(93): Show TAGGGGGAGGGGAGGGGGACGAGGGGGAGGGGAGGGGGACGAGGGGGAGG GGAGGGGGACGAGGGGGAGGGGAGGGGGACGAGGGGGAGGGGAGGGGGAC G	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	163	0.0061	100	c.361 others(115): Show c.361+164_361+165insCGTCCCCCTCCCCTCCCCCTCGTCCCCCTC CCCTCCCCCTCGTCCCCCTCCCCTCCCCCTCGTCCCCCTCCCCTCCCCCT CGTCCCCCTCCCCTCCCCCT	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	1/28			chrX	TogoVar
MARF1_chr16_15589387_15648154	15591957	T T	TCTATCTA others(93): Show TCTATCTATATATAATATATAGATATATATCTATATATTATATATAGATA TATATCTATATATAATATATAGATAGATATCTATATATTATATATAGATA G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02965.hp2 HG02055.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0310 a0001c0001t0012g0311 a0001c0001t0012g0310 a0001c0001t0012g0311	2	393	0.0051	100	c.47 others(111): Show c.4735_*4736insCTATCTATATATAATATATAGATATCTATCTATA TATTATATATAGATATATATCTATATATAATATATAGATATATATCTATA TATTATATATAGATAG	MARF1	ENSG00000166783.22	transcript	ENST00000396368.8	protein_coding		2429		chr16	TogoVar
MAST4_chr5_66591393_67174593	66748424	C C	CCTCCCTC others(93): Show CCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTGTCTCCC TCCCTCCCTCCCTCTCTCCCTGTCTCCCTCCCTCCCTCCCTCTCTCCCTG T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03486.hp1 HG03098.hp1 HG03486.hp1	a0006 a0012 a0006 a0012	a0006c0038 a0012c0025 a0006c0038 a0012c0025	a0006c0038t0031 a0012c0025t0006 a0006c0038t0031 a0012c0025t0006	a0006c0038t0031g0014 a0012c0025t0006g0072 a0006c0038t0031g0014 a0012c0025t0006g0072	2	108	0.0185	100	c.364 others(119): Show c.364-11258_364-11257insCCTCCCTCCCTCCCTGTCTCCCTCCC TCCCTCCCTCTCTCCCTGTCTCCCTCCCTCCCTCCCTCTCTCCCTGTCTC CCTCCCTCCCTCCCTCTCTCCCTC	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	66748436	C C	CCTCCCTC others(93): Show CCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTGTCTCCCTCCCTCCC TCCCTCTCTCCCTGTCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCCTC A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0029 a0001c0003t0029	a0001c0003t0029g0045 a0001c0003t0029g0045	1	108	0.0093	100	c.364 others(119): Show c.364-11266_364-11265insCCTCTCTCCCTCCCTCCCTCCCTCCC TGTCTCCCTCCCTCCCTCCCTCTCTCCCTGTCTCCCTCCCTCCCTCCCTC TCTCCCTCCCTCCCTCACTCCCTC	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	66748436	C C	CCTCCCTC others(93): Show CCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTGTCTCCCTCCCTCCC TCCCTCTCTCCCTGTCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCCTC A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01168.hp1 HG01255.hp1 others(6): Show HG00323.hp1 HG01168.hp1 HG01255.hp1 HG02027.hp1 HG02451.hp2 HG02738.hp1 NA18950.hp1 NA19043.hp2 NA19090.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0006 a0011	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0022 a0003c0004 a0005c0006 a0006c0012 a0011c0028	a0001c0001t0006 a0001c0002t0001 a0001c0003t0001 others(6): Show a0001c0001t0006 a0001c0002t0001 a0001c0003t0001 a0001c0009t0002 a0001c0022t0008 a0003c0004t0002 a0005c0006t0004 a0006c0012t0015 a0011c0028t0003	a0001c0001t0006g0078 a0001c0002t0001g0075 a0001c0003t0001g0102 others(6): Show a0001c0001t0006g0078 a0001c0002t0001g0075 a0001c0003t0001g0102 a0001c0009t0002g0013 a0001c0022t0008g0092 a0003c0004t0002g0021 a0005c0006t0004g0048 a0006c0012t0015g0086 a0011c0028t0003g0033	9	108	0.0833	100	c.364 others(119): Show c.364-11258_364-11257insCCTCCCTCCCTCCCTCCCTGTCTCCC TCCCTCCCTCCCTCTCTCCCTGTCTCCCTCCCTCCCTCCCTCTCTCCCTC CCTCCCTCACTCCCTCTCTCCCTC	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	66748436	C C	CCTCCCTC others(93): Show CCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTGTCTCCCTCCCTCCCTCCC TCTCTCCCTGTCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTC A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01243.hp1 others(35): Show HG00741.hp1 HG00741.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01891.hp1 HG01891.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp2 HG02886.hp1 HG02897.hp1 HG02922.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03834.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18950.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009 a0010 a0013 a0014 a0015 a0016	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0009 a0001c0021 a0001c0039 a0002c0005 a0002c0013 a0002c0023 a0003c0019 a0005c0006 a0006c0012 a0006c0031 a0007c0014 a0009c0032 a0010c0037 a0013c0027 a0014c0026 a0015c0024 a0016c0029	a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 others(30): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0030 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0002t0016 a0001c0003t0001 a0001c0003t0011 a0001c0008t0007 a0001c0009t0002 a0001c0009t0012 a0001c0021t0001 a0001c0039t0032 a0002c0005t0010 a0002c0005t0018 a0002c0013t0017 a0002c0023t0010 a0003c0019t0007 a0005c0006t0005 a0005c0006t0011 a0006c0012t0015 a0006c0031t0027 a0007c0014t0007 a0009c0032t0006 a0010c0037t0002 a0013c0027t0009 a0014c0026t0001 a0015c0024t0001 a0016c0029t0001	a0001c0001t0006g0093 a0001c0001t0008g0076 a0001c0001t0009g0056 others(35): Show a0001c0001t0006g0093 a0001c0001t0008g0076 a0001c0001t0009g0056 a0001c0001t0011g0103 a0001c0001t0014g0035 a0001c0001t0030g0029 a0001c0002t0001g0027 a0001c0002t0001g0080 a0001c0002t0001g0097 a0001c0002t0004g0043 a0001c0002t0006g0082 a0001c0002t0016g0081 a0001c0003t0001g0077 a0001c0003t0001g0095 a0001c0003t0001g0098 a0001c0003t0011g0088 a0001c0008t0007g0001 a0001c0009t0002g0006 a0001c0009t0012g0005 a0001c0021t0001g0096 a0001c0039t0032g0017 a0002c0005t0010g0099 a0002c0005t0018g0069 a0002c0013t0017g0007 a0002c0013t0017g0010 a0002c0023t0010g0100 a0003c0019t0007g0026 a0005c0006t0005g0037 a0005c0006t0011g0091 a0006c0012t0015g0085 a0006c0031t0027g0101 a0007c0014t0007g0012 a0009c0032t0006g0107 a0010c0037t0002g0018 a0013c0027t0009g0031 a0014c0026t0001g0104 a0015c0024t0001g0089 a0016c0029t0001g0073	38	108	0.3519	100	c.364 others(119): Show c.364-11258_364-11257insCCTCCCTCCCTCCCTGTCTCCCTCCC TCCCTCCCTCTCTCCCTGTCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTC CCTCCCTCACTCCCTCTCTCCCTC	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MBNL3_chrX_132364320_132494038	132396678	A A	ACATATAT others(93): Show ACATATATATTCACATATATATATTCACATATATAGATTCATATATATAT TCATATATAGATTCATATATATATATTCATATATATATTCATATATAGAT T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0024 a0001c0001t0042g0024	1	191	0.0052	100	c.343 others(117): Show c.343-4345_343-4344insAATCTATATATGAATATATATATGAATA TATATATATGAATCTATATATGAATATATATATGAATCTATATATGTGAA TATATATATGTGAATATATATG	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MCOLN2_chr1_84920583_85002113	84987659	T T	TATGTATA others(93): Show TATGTATATAGAAATATATACATACATATGTATATAGAAATATATACATA CATATGTATATAGAAATATATACATACATATGTATATAGAAATATACATA C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0002 a0010c0010t0002	a0010c0010t0002g0245 a0010c0010t0002g0245	1	350	0.0029	100	c.77+ others(115): Show c.77+9136_77+9137insGTATGTATATTTCTATATACATATGTATGT ATATATTTCTATATACATATGTATGTATATATTTCTATATACATATGTAT GTATATATTTCTATATACAT	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding	1/13			chr1	TogoVar
MCUB_chr4_109555246_109693719	109597453	C C	CGGGGGGC others(93): Show CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGG G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0078 a0004c0004t0001g0078	1	336	0.0030	100	c.99+ others(117): Show c.99+37083_99+37084insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCC	MCUB	ENSG00000005059.16	transcript	ENST00000394650.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MDGA2_chr14_46835092_47680605	47609428	C C	CATATATA others(93): Show CATATATATATATATACATGTATATATATATATATATATATATACATATA CATATATATATATATATACATATATATATATATATATATATATATACATA T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0003 a0003c0004t0004g0003	1	120	0.0083	100	c.280 others(119): Show c.280+65088_280+65089insATATGTATATATATATATATATATAT ATATATGTATATATATATATATATGTATATGTATATATATATATATATAT ATATACATGTATATATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47609428	C C	CATATATA others(93): Show CATATATATATATATACATGTATATATATATATATATATATATACATATA TATATATATATATATATATACATATATATATATATATATATATATACATA T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	120	0.0083	100	c.280 others(119): Show c.280+65088_280+65089insATATGTATATATATATATATATATAT ATATGTATATATATATATATATATATATATGTATATATATATATATATAT ATATACATGTATATATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MED16_chr19_862963_898187	877963	C C	CCCACATG others(93): Show CCCACATGCCCCAGCAGCTCACCTTCCCCTGGCTGTCAATCCCCACCAGG GCCAGCCCCACGTGCCCCAGCAGCTCACCTTCCCCTGGTTGTCAATGCCC A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	56	0.0179	100	c.135 others(117): Show c.1354-784_1354-783insTGGGCATTGACAACCAGGGGAAGGTGAG CTGCTGGGGCACGTGGGGCTGGCCCTGGTGGGGATTGACAGCCAGGGGAA GGTGAGCTGCTGGGGCATGTGG	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	8/15			chr19	TogoVar
MEGF6_chr1_3482951_3616508	3588206	A A	ACAGGAGG others(93): Show ACAGGAGGGGGCAGGAGTGGCCAGGAGGGGGCAGGACAGGGCAGGAGGGG ACAGGAGTGGCCAGGAGTGGCCAGGAGGGGGCAGGAGTGGCCAGGAGGGG G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0052 a0052	a0052c0096 a0052c0096	a0052c0096t0007 a0052c0096t0007	a0052c0096t0007g0229 a0052c0096t0007g0229	1	292	0.0034	100	c.376 others(117): Show c.376+7131_376+7132insCCCCCTCCTGGCCACTCCTGCCCCCTCC TGGCCACTCCTGGCCACTCCTGTCCCCTCCTGCCCTGTCCTGCCCCCTCC TGGCCACTCCTGCCCCCTCCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3588216	G G	GCAGGAGT others(93): Show GCAGGAGTGGCCAGGAGGGGGCAGGACAGGGCAGGAGGGGACAGGAGTGG CCAGGAGTGGCCAGGAGGGGGCAGGAGTGGCCAGGAGGGGGCAGGAGGGG A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0086 a0086	a0086c0062 a0086c0062	a0086c0062t0011 a0086c0062t0011	a0086c0062t0011g0147 a0086c0062t0011g0147	1	292	0.0034	100	c.376 others(117): Show c.376+7121_376+7122insTCCCCTCCTGCCCCCTCCTGGCCACTCC TGCCCCCTCCTGGCCACTCCTGGCCACTCCTGTCCCCTCCTGCCCTGTCC TGCCCCCTCCTGGCCACTCCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
METRNL_chr17_83074609_83100122	83090298	A A	ACACACAC others(93): Show ACACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCC TGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCGCCCCAGGGTGGGAG C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	399	0.0025	100	c.557 others(117): Show c.557-2828_557-2827insCCCCGCCCTGCCCCAGGGTGGGAGCCAC ACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACCCCCGCCCTGCC CCAGGGTGGGAGCCACACACAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METRNL_chr17_83074609_83100122	83090329	G G	GCCACACA others(93): Show GCCACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCCCG CCCTGCCCCAGGGTGGGAGCCACACACCCCCGCCCCGCCCCAGGGTGGGA A	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0309 a0001c0001t0002g0309	1	399	0.0025	100	c.557 others(117): Show c.557-2830_557-2829insCCCCGCCCCGCCCCAGGGTGGGAGCCAC ACACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACCCCCGCCCCG CCCCAGGGTGGGAACCACACAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(93): Show GTATATATATATATATATATATATATACACACACACACTATATATACACA CACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTATAT A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0135 a0001c0005t0006g0135	1	340	0.0029	100	c.120 others(119): Show c.1201-5499_1201-5498insCACACACACACTATATATACACACAC ACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTATATATA TATATATATATATATATATATATA	MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(93): Show GTATATATATATATATATATATATATACACACACACACTATATATACACA CACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTAT A	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0087 a0001c0002t0001g0087	1	340	0.0029	100	c.120 others(119): Show c.1201-5499_1201-5498insCACACACACACTATATATACACACAC ACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTATATA TATATATATATATATATATATATA	MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(93): Show GTATATATATATATATATATATATATACACACACACTATATATACACACA CACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTATAT A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	340	0.0029	100	c.120 others(119): Show c.1201-5499_1201-5498insCACACACACTATATATACACACACAC ATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTATATATA TATATATATATATATATATATATA	MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(93): Show GTATATATATATATATATATATATATATACACACACACACTATATATACA CACACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTAT A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01106.hp2 HG00738.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0272 a0001c0002t0001g0273	2	340	0.0059	100	c.120 others(119): Show c.1201-5497_1201-5496insCACACACACACTATATATACACACAC ACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTATATATA TATATATATATATATATATATATA	MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(93): Show GTATATATATATATATATATATATATATACACACACTATATATACACACA CACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTATAT A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG02258.hp1 others(5): Show HG00099.hp2 HG00642.hp2 HG02258.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG03540.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0001t0027 a0001c0008t0002 a0001c0001t0002 a0001c0001t0027 a0001c0008t0002	a0001c0001t0002g0014 a0001c0001t0002g0140 a0001c0001t0002g0303 others(5): Show a0001c0001t0002g0014 a0001c0001t0002g0140 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0027g0123 a0001c0008t0002g0242	8	340	0.0235	100	c.120 others(119): Show c.1201-5497_1201-5496insCACACACTATATATACACACACACAT GCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTATATATATA TATATATATATATATATATATATA	MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATGTAT others(93): Show GTATGTATATATATATATATATATATACACACACACACTATATATACACA CACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTATAT A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0248 a0001c0004t0002g0248	1	340	0.0029	100	c.120 others(119): Show c.1201-5522_1201-5521insGTATATATATATATATATATATACAC ACACACACTATATATACACACACACATGCATATACATATGTGTTGTGTGT GTGTGTTTGTGTGTGTATATATAT	MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
MFSD12_chr19_3539199_3562586	3556957	G G	GGGAAGCT others(93): Show GGGAAGCTCGGGCCACGGGACAGACAGACCGAGGGGTGAAAACTCAGCTC ATAGGGCAGACAGATACATAGGGGAGGTTAAGGCCGTGGACAGACAGTGC A	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	426	0.0024	100	c.298 others(115): Show c.298+148_298+149insTGCACTGTCTGTCCACGGCCTTAACCTCCC CTATGTATCTGTCTGCCCTATGAGCTGAGTTTTCACCCCTCGGTCTGTCT GTCCCGTGGCCCGAGCTTCC	MFSD12	ENSG00000161091.15	transcript	ENST00000355415.7	protein_coding	1/9			chr19	TogoVar
MGAM_chr7_141990879_142111747	142067986	A A	AAATATAT others(93): Show AAATATATATATATATATAAATATATATATATATATATATAAATATATAT ATATATATATATATATAAATATATATATATATATATATATATATTTTTTT T	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	316	0.0032	100	c.500 others(117): Show c.5004+561_5004+562insAATATATATATATATATAAATATATATA TATATATATATAAATATATATATATATATATATATATAAATATATATATA TATATATATATATATTTTTTTT	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	42/70			chr7	TogoVar
MGARP_chr4_139261165_139285225	139262411	T T	TTAGATAT others(93): Show TTAGATATATATATATAAGAAATTCTTAAAATATATATATTCTTATATAT ATATATATTCATATATATATATATATATTCATATATATATATATATATAT A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	364	0.0028	100	c.41 others(111): Show c.4187_*4188insTATATATATATATATATATATGAATATATATATA TATATATGAATATATATATATATAAGAATATATATATTTTAAGAATTTCT TATATATATATATCTA	MGARP	ENSG00000137463.5	transcript	ENST00000398955.2	protein_coding		3753		chr4	TogoVar
MICAL2_chr11_12105590_12268785	12185126	T T	TGGATGGA others(93): Show TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGGGGGATGGGGG GATGGATGGGTGGGGGGATGGGTGGGTGGGGGGATGGATGGGTGGGTGGG A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp1 HG02165.hp1 others(12): Show HG00597.hp1 HG00673.hp1 HG02165.hp1 HG02486.hp2 HG02615.hp2 HG02970.hp1 HG03209.hp1 HG03486.hp1 HG04115.hp2 NA18972.hp2 NA18975.hp2 NA18986.hp1 NA19000.hp2 NA19001.hp1 NA19060.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0002 a0001c0004 a0001c0018 others(6): Show a0001c0002 a0001c0004 a0001c0018 a0001c0026 a0002c0067 a0004c0020 a0004c0054 a0007c0057 a0007c0058	a0001c0002t0001 a0001c0004t0001 a0001c0004t0002 others(8): Show a0001c0002t0001 a0001c0004t0001 a0001c0004t0002 a0001c0004t0007 a0001c0018t0001 a0001c0026t0001 a0002c0067t0001 a0004c0020t0001 a0004c0054t0001 a0007c0057t0001 a0007c0058t0001	a0001c0002t0001g0090 a0001c0004t0001g0085 a0001c0004t0001g0094 others(12): Show a0001c0002t0001g0090 a0001c0004t0001g0085 a0001c0004t0001g0094 a0001c0004t0001g0341 a0001c0004t0002g0354 a0001c0004t0007g0351 a0001c0018t0001g0255 a0001c0026t0001g0163 a0002c0067t0001g0032 a0004c0020t0001g0027 a0004c0020t0001g0158 a0004c0020t0001g0301 a0004c0054t0001g0329 a0007c0057t0001g0271 a0007c0058t0001g0189	15	358	0.0419	100	c.265 others(119): Show c.265-19122_265-19121insATGGATGGATGGATGGATGGATGGAT GGATGGATGGGGGGATGGGGGGATGGATGGGTGGGGGGATGGGTGGGTGG GGGGATGGATGGGTGGGTGGGAGG	MICAL2	ENSG00000133816.19	transcript	ENST00000683283.1	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
MICAL2_chr11_12105590_12268785	12185126	T T	TGGGTGGA others(93): Show TGGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGGGG GATGGATGGGTGGGGGGATGGGTGGGTGGGGGGATGGATGGGTGGGTGGG A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp2 HG02723.hp1 others(4): Show HG02572.hp1 HG02647.hp2 HG02723.hp1 HG02965.hp2 HG03041.hp1 HG03139.hp2 HG03516.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0004 a0003c0063 a0001c0003 a0001c0004 a0003c0063	a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 others(1): Show a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0003c0063t0001	a0001c0003t0001g0225 a0001c0004t0001g0003 a0001c0004t0001g0005 others(4): Show a0001c0003t0001g0225 a0001c0004t0001g0003 a0001c0004t0001g0005 a0001c0004t0001g0095 a0001c0004t0001g0180 a0001c0004t0002g0236 a0003c0063t0001g0182	7	358	0.0196	100	c.265 others(119): Show c.265-19118_265-19117insATGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGGGGGATGGATGGGTGGGGGGATGGGTGGGTGGGGGG ATGGATGGGTGGGTGGGAGGGTGG	MICAL2	ENSG00000133816.19	transcript	ENST00000683283.1	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
MINAR1_chr15_79427336_79477304	79438987	G G	GGTGGGGT others(93): Show GGTGGGGTGGGTAGTGTGTGGGTGTGGATGGGGTAGGTAGTGTGTGGGGT GTGGGTGGGATGGGTAGTAAGGGTGTGGGGTGGGTAGTGAGTGTGTGGGG T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02922.hp2 HG02965.hp1 others(1): Show HG01891.hp1 HG02922.hp2 HG02965.hp1 NA19030.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0010 a0001c0006t0008 a0001c0006t0010	a0001c0006t0008g0025 a0001c0006t0008g0255 a0001c0006t0010g0224 a0001c0006t0008g0025 a0001c0006t0008g0255 a0001c0006t0010g0224	4	390	0.0103	100	c.-51 others(117): Show c.-51+6462_-51+6463insTGTGGGTGTGGATGGGGTAGGTAGTGTG TGGGGTGTGGGTGGGATGGGTAGTAAGGGTGTGGGGTGGGTAGTGAGTGT GTGGGGTGTGGGGTGGGTAGTG	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
MLPH_chr2_237482251_237560322	237543734	G G	GGGGACAG others(93): Show GGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAG TGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAG T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0076 a0002c0002t0003g0076	1	286	0.0035	100	c.153 others(119): Show c.1539+1078_1539+1079insACAGTGGTGAGTGGAGGGGACAGTGG TGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGG TGAGTGGGGACAGTGGTGAGTGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543957	G G	GGGGACAG others(93): Show GGGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAG TGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAG T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0078 a0002c0002t0003g0078	1	286	0.0035	100	c.153 others(119): Show c.1539+1301_1539+1302insACAGTGGTGAGTGGGCACGGTGGTGA GTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGG CAAGTGGGCACAGTGGTGAGTGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544974	G G	GGGGGACA others(93): Show GGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGT GGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGGACAGTGGTGAG T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0002 a0004c0014t0002	a0004c0014t0002g0260 a0004c0014t0002g0260	1	286	0.0035	100	c.154 others(119): Show c.1540-1628_1540-1627insACAGTGGTGAGTGGGGGACAGTGGTG AGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAG TGGGGGGGACAGTGGTGAGTGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237545165	G G	GGGACAGT others(93): Show GGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGTG GGGACAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGAGGACAGTGGTGAG T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02717.hp2 HG03041.hp2 HG01358.hp2 HG02717.hp2 HG03041.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0117 a0006c0006t0003g0118 a0006c0006t0003g0126 a0006c0006t0003g0117 a0006c0006t0003g0118 a0006c0006t0003g0126	3	286	0.0105	100	c.154 others(119): Show c.1540-1439_1540-1438insACAGTGGTGAGTGGGGACAGTGGTGA GTGGGAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGAGGACAGTGGT GAGTGGGAGGACAGTGGTGAGTGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar

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Search Results (Total: 10000 hits)