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	cds cds pos length	aa aa pos length	distance	status	chr	external
MAP3K15_chrX_19355059_19520508	19424207	CACATATA others(29): Show CACATATATACACACATATATGTACACACATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02451.hp1 HG01361.hp2 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0039 a0002c0002t0003g0143 a0002c0002t0003g0039 a0002c0002t0003g0143	2	163	0.0123	-36	c.143 others(55): Show c.1439+1288_1439+1323delATATATATGTGTGTACATATATGTGT GTATATATGT		MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	9/28					chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19452305	GAAGAGAA others(29): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	163	0.0061	-36	c.995 others(53): Show c.995+4572_995+4607delTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTCTCTT		MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28					chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19452315	GAAGAGAA others(29): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA19091.hp1 HG03942.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0032 a0001c0001t0006g0151 a0001c0001t0001g0032 a0001c0001t0006g0151	2	163	0.0123	-36	c.995 others(53): Show c.995+4562_995+4597delTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTCTCTT		MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28					chrX	TogoVar
MAP3K20_chr2_173070846_173273015	173110215	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0291 a0001c0008t0001g0291	1	334	0.0030	-36	c.159 others(55): Show c.159+19027_159+19062delATATATATATATATATATATATATAT TTTTTTTTTT		MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19				INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K21_chr1_233322724_233390148	233339232	TTCTTCTT others(29): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp1 HG03017.hp1 others(4): Show HG01109.hp2 HG02258.hp1 HG03017.hp1 HG03471.hp2 HG04199.hp1 NA19030.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0006 a0002c0007 others(2): Show a0001c0001 a0001c0006 a0002c0007 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0006t0009 a0002c0007t0005 others(2): Show a0001c0001t0001 a0001c0006t0009 a0002c0007t0005 a0003c0004t0001 a0004c0005t0003	a0001c0001t0001g0186 a0001c0006t0009g0022 a0001c0006t0009g0341 others(3): Show a0001c0001t0001g0186 a0001c0006t0009g0022 a0001c0006t0009g0341 a0002c0007t0005g0334 a0003c0004t0001g0206 a0004c0005t0003g0042	7	372	0.0188	-36	c.806 others(53): Show c.806-7186_806-7151delTTCTTCTTCTTCCTCTTCTTCTTCTTCT TCTTCTTC		MAP3K21	ENSG00000143674.11	transcript	ENST00000366624.8	protein_coding	1/9				INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP3K21_chr1_233322724_233390148	233339256	TTCTTCTT others(29): Show TTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02717.hp2 HG02145.hp1 HG02717.hp2	a0001 a0003 a0001 a0003	a0001c0018 a0003c0004 a0001c0018 a0003c0004	a0001c0018t0007 a0003c0004t0017 a0001c0018t0007 a0003c0004t0017	a0001c0018t0007g0322 a0003c0004t0017g0233 a0001c0018t0007g0322 a0003c0004t0017g0233	2	372	0.0054	-36	c.806 others(53): Show c.806-7162_806-7127delTTCTTCTTCTTCCTCTTCTTCTTCCTCT TCTTCTTC		MAP3K21	ENSG00000143674.11	transcript	ENST00000366624.8	protein_coding	1/9				INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP7D2_chrX_20001713_20121907	20094506	ATATATAT others(29): Show ATATATATATGTATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03239.hp2 HG03490.hp1 others(1): Show HG01167.hp1 HG03239.hp2 HG03490.hp1 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0003 a0002c0002t0001 a0002c0003t0003	a0002c0002t0001g0158 a0002c0002t0001g0169 a0002c0002t0001g0207 others(1): Show a0002c0002t0001g0158 a0002c0002t0001g0169 a0002c0002t0001g0207 a0002c0003t0003g0096	4	210	0.0191	-36	c.130 others(55): Show c.130+22208_130+22243delCATATATATATATATATATATATATA CATATATATA		MAP7D2	ENSG00000184368.16	transcript	ENST00000379643.10	protein_coding	1/16					chrX	TogoVar
MAPKAPK3_chr3_50612151_50654291	50642241	CTGTTTCT others(29): Show CTGTTTCTGCAGAAGCTGCAGAGATAATGCGGGATAT	C C	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	HG01081.hp2 HG01081.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0092 a0003c0003t0001g0092	1	326	0.0031	-36	c.425 others(45): Show c.425-9_451delTTTCTGCAGAAGCTGCAGAGATAATGCGGGATATTG	p.Glu others(13): Show p.Glu142_Ile150del	MAPKAPK3	ENSG00000114738.11	transcript	ENST00000621469.5	protein_coding	5/11	425/1149	142/382		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAPT_chr17_45889554_46033334	45941680	CTCCTTCC others(29): Show CTCCTTCCTTCCTTCCTTCCTGCCTGCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0171 a0002c0002t0002g0171	1	253	0.0040	-36	c.-17 others(55): Show c.-17-20620_-17-20585delGCCTGCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCT		MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12				INFO_REALIGN_3_PRIME	chr17	TogoVar
MAPT_chr17_45889554_46033334	45941705	GCCTTCCT others(29): Show GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0018 a0003c0004t0004g0018	1	253	0.0040	-36	c.-17 others(55): Show c.-17-20600_-17-20565delTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCT		MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12				INFO_REALIGN_3_PRIME	chr17	TogoVar
MARCHF10_chr17_62696314_62813314	62807343	AGCCAATT others(29): Show AGCCAATTTGGCTTAAGAGTTGGGGGCGGGGTGGAGG	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0002 a0001c0001t0009g0002	1	280	0.0036	-36	c.-18 others(51): Show c.-18+698_-18+733delCCTCCACCCCGCCCCCAACTCTTAAGCCAA ATTGGC		MARCHF10	ENSG00000173838.12	transcript	ENST00000311269.10	protein_coding	1/10					chr17	TogoVar
MARCHF1_chr4_163519718_164389019	163847549	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0052 a0001c0001t0004g0052	1	102	0.0098	-36	c.111 others(53): Show c.111+6436_111+6471delAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA		MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9					chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164176960	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp1 HG02723.hp2 others(5): Show HG01109.hp2 HG02258.hp1 HG02723.hp2 HG03139.hp2 HG03486.hp2 HG03579.hp2 NA18906.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0004	a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 others(4): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0021 a0001c0002t0015 a0001c0005t0016 a0002c0004t0029	a0001c0001t0006g0053 a0001c0001t0006g0059 a0001c0001t0007g0049 others(5): Show a0001c0001t0006g0053 a0001c0001t0006g0059 a0001c0001t0007g0049 a0001c0001t0013g0015 a0001c0001t0021g0028 a0001c0002t0015g0050 a0001c0005t0016g0048 a0002c0004t0029g0047	8	102	0.0784	-36	c.-32 others(57): Show c.-322-65334_-322-65299delTATATATATATATATAGAGAGAGA GAGAGAGAGAGA		MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9					chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164176962	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02027.hp1 HG02055.hp1 others(13): Show HG01496.hp2 HG02027.hp1 HG02055.hp1 HG02132.hp1 HG02165.hp1 HG02257.hp1 HG02293.hp1 HG02523.hp1 HG03225.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG06807.hp2 NA18969.hp2 NA18984.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0002t0002 a0001c0002t0003 a0001c0005t0011 a0002c0003t0001 a0002c0003t0008 a0002c0003t0010 a0002c0004t0003	a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0004g0056 others(13): Show a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0004g0056 a0001c0001t0005g0037 a0001c0001t0006g0072 a0001c0001t0006g0087 a0001c0001t0007g0042 a0001c0001t0007g0051 a0001c0002t0002g0020 a0001c0002t0002g0054 a0001c0002t0003g0016 a0001c0005t0011g0069 a0002c0003t0001g0055 a0002c0003t0008g0075 a0002c0003t0010g0058 a0002c0004t0003g0081	16	102	0.1569	-36	c.-32 others(57): Show c.-322-65336_-322-65301delTATATATATATATATATAGAGAGA GAGAGAGAGAGA		MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9					chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164346604	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG02897.hp2 HG02055.hp1 HG02280.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0007 a0001c0002t0003 a0001c0006t0001 a0001c0001t0007 a0001c0002t0003 a0001c0006t0001	a0001c0001t0007g0042 a0001c0002t0003g0001 a0001c0006t0001g0041 a0001c0001t0007g0042 a0001c0002t0003g0001 a0001c0006t0001g0041	3	102	0.0294	-36	c.-32 others(57): Show c.-323+37230_-323+37265delTATATATATATATATATATATATA TATATATATATA		MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9					chr4	TogoVar
MARCHF4_chr2_216252865_216377483	216320643	CTTTCTTT others(29): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0002 a0001c0001t0015g0002	1	330	0.0030	-36	c.517 others(55): Show c.517-36950_517-36915delAAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA		MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding	1/3					chr2	TogoVar
MARCHF4_chr2_216252865_216377483	216354891	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03927.hp2 HG03130.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0015 a0001c0001t0009 a0001c0001t0015	a0001c0001t0009g0057 a0001c0001t0015g0002 a0001c0001t0009g0057 a0001c0001t0015g0002	2	330	0.0061	-36	c.516 others(55): Show c.516+14818_516+14853delGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA		MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding	1/3					chr2	TogoVar
MARCHF5_chr10_92286167_92358964	92347499	TAGATAGA others(29): Show TAGATAGATAGATAGATAGATAGATGATAGATATATA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0070 a0001c0001t0018g0070	1	306	0.0033	-36	c.370 others(53): Show c.370-1849_370-1814delAGATAGATAGATAGATAGATAGATGATA GATATATA		MARCHF5	ENSG00000198060.10	transcript	ENST00000358935.3	protein_coding	3/5					chr10	TogoVar
MARCHF6_chr5_10348695_10445388	10435623	CTATATAA others(29): Show CTATATAACTATATAACTATATATATATATATATATA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0140 a0001c0001t0140	a0001c0001t0140g0253 a0001c0001t0140g0253	1	284	0.0035	-36	c.19 others(47): Show c.1946_*1981delACTATATAACTATATATATATATATATATATATA TA		MARCHF6	ENSG00000145495.17	transcript	ENST00000274140.10	protein_coding	26/26			1946	INFO_REALIGN_3_PRIME	chr5	TogoVar
MARCHF6_chr5_10348695_10445388	10435631	CTATATAA others(29): Show CTATATAACTATATATATATATATATATATATATATA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0115 a0001c0001t0115	a0001c0001t0115g0269 a0001c0001t0115g0269	1	284	0.0035	-36	c.19 others(47): Show c.1954_*1989delACTATATATATATATATATATATATATATATATA TA		MARCHF6	ENSG00000145495.17	transcript	ENST00000274140.10	protein_coding	26/26			1954	INFO_REALIGN_3_PRIME	chr5	TogoVar
MARCO_chr2_118937194_118999660	118986636	AGAAAGAA others(29): Show AGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02132.hp1 HG02922.hp1 others(5): Show HG02027.hp1 HG02132.hp1 HG02922.hp1 HG03579.hp1 NA19002.hp1 NA19011.hp2 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0041 a0001c0001t0001g0189 a0001c0001t0001g0211 others(5): Show a0001c0001t0001g0041 a0001c0001t0001g0189 a0001c0001t0001g0211 a0001c0001t0001g0275 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0345 a0001c0003t0001g0216	8	394	0.0203	-36	c.106 others(55): Show c.1064-3933_1064-3898delGGAAGGAAGGAAGGAAGGAAAGAAAG AAAGAAAGAA		MARCO	ENSG00000019169.11	transcript	ENST00000327097.5	protein_coding	12/16				INFO_REALIGN_3_PRIME	chr2	TogoVar
MARK1_chr1_220523136_220669461	220607548	TTCCAACA others(29): Show TTCCAACACTATGTTGAATAGGAGTGGTGAGAGGACA	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	298	0.0034	-36	c.495 others(53): Show c.495+3415_495+3450delAACACTATGTTGAATAGGAGTGGTGAGA GGACATCC		MARK1	ENSG00000116141.17	transcript	ENST00000366917.6	protein_coding	6/17				INFO_REALIGN_3_PRIME	chr1	TogoVar
MARS1_chr12_57483068_57521652	57493490	ATATATTA others(29): Show ATATATTATAATATATAATATATAATATATAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	288	0.0035	-36	c.770 others(53): Show c.770+2851_770+2886delTTATAATATATAATATATAATATATAAT ATATTATA		MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20				INFO_REALIGN_3_PRIME	chr12	TogoVar
MARS1_chr12_57483068_57521652	57493747	ATACATTA others(29): Show ATACATTATATTATATATATTATATATAATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG02559.hp2 others(3): Show HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02809.hp2 HG03041.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 others(3): Show a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0248	6	288	0.0208	-36	c.770 others(53): Show c.770+3104_770+3139delTACATTATATTATATATATTATATATAA TATATATT		MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20					chr12	TogoVar
MAST4_chr5_66591393_67174593	66919898	CTCCTTCC others(29): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0006 a0001c0008t0006	a0001c0008t0006g0084 a0001c0008t0006g0084	1	108	0.0093	-36	c.674 others(55): Show c.674+19959_674+19994delCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTC		MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	4/28				INFO_REALIGN_3_PRIME	chr5	TogoVar
MB21D2_chr3_192791815_192922856	192828591	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02738.hp2 HG00408.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0100 a0001c0002t0003g0206 a0001c0001t0001g0100 a0001c0002t0003g0206	2	298	0.0067	-36	c.212 others(55): Show c.212-28977_212-28942delATATATATATATATATATATATATAT ATATATATAT		MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1					chr3	TogoVar
MBD3L2_chr19_7044321_7056735	7053462	TTATAATA others(29): Show TTATAATATAATTTATATGTTATATAATTATATTATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00609.hp1 others(33): Show HG00544.hp1 HG00597.hp1 HG00609.hp1 HG01257.hp2 HG01346.hp2 HG01891.hp2 HG02015.hp1 HG02129.hp2 HG02165.hp2 HG02273.hp2 HG02523.hp2 HG02683.hp2 HG02698.hp2 HG03017.hp2 HG03139.hp1 HG03195.hp2 HG03669.hp2 NA18747.hp2 NA18941.hp2 NA18943.hp2 NA18946.hp1 NA18950.hp2 NA18956.hp2 NA18957.hp1 NA18962.hp2 NA18970.hp1 NA18983.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19065.hp2 NA19066.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0010 others(3): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0024 a0001c0001t0002g0026	36	258	0.1395	-36	c.18 others(47): Show c.1841_*1876delTATAATATAATTTATATGTTATATAATTATATTA TA		MBD3L2	ENSG00000230522.5	transcript	ENST00000381393.3	protein_coding				1728		chr19	TogoVar
MBD3L2_chr19_7044321_7056735	7054319	ATAATATA others(29): Show ATAATATATATAATTATATAATATATAAATTATATTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0020	1	258	0.0039	-36	c.26 others(47): Show c.2698_*2733delTAATATATATAATTATATAATATATAAATTATAT TT		MBD3L2	ENSG00000230522.5	transcript	ENST00000381393.3	protein_coding				2585		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7053462	TTATAATA others(29): Show TTATAATATAATTTATATGTTATATAATTATATTATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00609.hp1 others(29): Show HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG01257.hp2 HG01346.hp2 HG01891.hp2 HG02015.hp2 HG02129.hp2 HG02165.hp2 HG02273.hp1 HG02523.hp2 HG02683.hp2 HG02698.hp1 HG03195.hp1 HG03669.hp2 NA18747.hp2 NA18941.hp2 NA18946.hp1 NA18950.hp2 NA18953.hp2 NA18957.hp1 NA18962.hp2 NA18970.hp1 NA18976.hp2 NA18983.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19065.hp2 NA19066.hp2 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0005 a0001c0001t0001 a0001c0001t0002 a0002c0002t0005	a0001c0001t0001g0001 a0001c0001t0002g0003 a0002c0002t0005g0045 a0001c0001t0001g0001 a0001c0001t0002g0003 a0002c0002t0005g0045	32	288	0.1111	-36	c.28 others(47): Show c.2824_*2859delTATAATATAATTATATAACATATAAATTATATTA TA		MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding				2744		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7054319	ATAATATA others(29): Show ATAATATATATAATTATATAATATATAAATTATATTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0005 a0002c0004t0001g0005	1	288	0.0035	-36	c.19 others(47): Show c.1967_*2002delAAATATAATTTATATATTATATAATTATATATAT TA		MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding				1887		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7034617	TTTTATAT others(29): Show TTTTATATTATAATATAATGTATGTTATATAATTATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0002 a0011c0020t0002	a0011c0020t0002g0043 a0011c0020t0002g0043	1	262	0.0038	-36	c.32 others(47): Show c.3208_*3243delTATAATTATATAACATACATTATATTATAATATA AA		MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding				3131		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7035282	ATATAATA others(29): Show ATATAATATAATATGAAATAATTTTATATAATTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0020 a0005c0009t0001g0020	1	262	0.0038	-36	c.25 others(47): Show c.2543_*2578delATATAATTATATAAAATTATTTCATATTATATTA TA		MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding				2466		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7035577	TACCGATA others(29): Show TACCGATATAGTATATATTATACAATTATATTATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00609.hp1 others(26): Show HG00544.hp1 HG00597.hp1 HG00609.hp1 HG01891.hp1 HG02015.hp2 HG02074.hp2 HG02129.hp2 HG02165.hp1 HG02273.hp1 HG02572.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02922.hp1 HG03669.hp1 NA18747.hp1 NA18941.hp2 NA18943.hp2 NA18950.hp1 NA18962.hp2 NA18970.hp1 NA18973.hp1 NA18983.hp1 NA19011.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19065.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0019 a0002c0002 a0002c0005 a0002c0019	a0002c0002t0001 a0002c0005t0001 a0002c0019t0001 a0002c0002t0001 a0002c0005t0001 a0002c0019t0001	a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0012 others(3): Show a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0012 a0002c0002t0001g0048 a0002c0005t0001g0008 a0002c0019t0001g0049	29	262	0.1107	-36	c.22 others(47): Show c.2248_*2283delTATATAATATAATTGTATAATATATACTATATCG GT		MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding				2171		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7035842	ATATATAT others(29): Show ATATATATAATATAATTATATAACATATAAATTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01255.hp2 HG00733.hp1 HG01255.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0003 a0003c0003t0002g0003	2	262	0.0076	-36	c.19 others(47): Show c.1983_*2018delATATAATTTATATGTTATATAATTATATTATATA TA		MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding				1906		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7035895	CTATAACA others(29): Show CTATAACATATAAATTATATTATATATAATATAATTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0003 a0003c0003t0002g0003	1	262	0.0038	-36	c.19 others(47): Show c.1930_*1965delTAATTATATTATATATAATATAATTTATATGTTA TA		MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding				1853		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035577	TACCGATA others(29): Show TACCGATATAGTATATATTATACAATTATATTATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG01891.hp1 others(23): Show HG00544.hp1 HG00609.hp2 HG01891.hp1 HG02015.hp2 HG02055.hp1 HG02074.hp1 HG02273.hp2 HG02572.hp1 HG02683.hp2 HG02698.hp2 HG03017.hp2 HG03139.hp2 HG03669.hp2 NA18747.hp1 NA18941.hp2 NA18943.hp2 NA18947.hp1 NA18950.hp2 NA18962.hp1 NA18970.hp1 NA18973.hp1 NA18983.hp2 NA18991.hp2 NA19011.hp2 NA19058.hp2 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0017 a0002c0002 a0002c0017	a0002c0002t0001 a0002c0017t0001 a0002c0002t0001 a0002c0017t0001	a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0017t0001g0036 a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0017t0001g0036	26	249	0.1044	-36	c.26 others(47): Show c.2684_*2719delACCGATATAGTATATATTATACAATTATATTATA TA		MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding				2567		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035842	ATATATAT others(29): Show ATATATATAATATAATTATATAACATATAAATTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0025 a0003c0003t0001g0025	1	249	0.0040	-36	c.29 others(47): Show c.2949_*2984delTATATATAATATAATTATATAACATATAAATTAT AT		MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding				2832		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035895	CTATAACA others(29): Show CTATAACATATAAATTATATTATATATAATATAATTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	249	0.0040	-36	c.30 others(47): Show c.3002_*3037delTATAACATATAAATTATATTATATATAATATAAT TA		MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding				2885		chr19	TogoVar
MBLAC1_chr7_100121967_100133495	100131788	GTTTCTTT others(29): Show GTTTCTTTGTTTCTTTCTTTCTTTCTTTCTTTCTTTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	390	0.0051	-36	c.35 others(47): Show c.3593_*3628delTTTCTTTGTTTCTTTCTTTCTTTCTTTCTTTCTT TC		MBLAC1	ENSG00000214309.5	transcript	ENST00000398075.4	protein_coding				3294		chr7	TogoVar
MBTD1_chr17_51172425_51265049	51179484	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0141 a0001c0001t0141	a0001c0001t0141g0101 a0001c0001t0141g0101	1	340	0.0029	-36	c.10 others(47): Show c.1056_*1091delTATATATATATATATATATATATATATATATATA TA		MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17			1056		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51197041	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG01255.hp2 others(7): Show HG00140.hp1 HG00639.hp2 HG01255.hp2 HG01256.hp1 HG02486.hp1 HG02809.hp2 HG02970.hp2 HG03041.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0036 a0001c0001t0042 a0001c0001t0043 others(6): Show a0001c0001t0036 a0001c0001t0042 a0001c0001t0043 a0001c0001t0050 a0001c0001t0071 a0001c0001t0097 a0001c0001t0109 a0001c0001t0110 a0001c0004t0004	a0001c0001t0036g0256 a0001c0001t0042g0217 a0001c0001t0042g0220 others(7): Show a0001c0001t0036g0256 a0001c0001t0042g0217 a0001c0001t0042g0220 a0001c0001t0043g0257 a0001c0001t0050g0259 a0001c0001t0071g0197 a0001c0001t0097g0254 a0001c0001t0109g0218 a0001c0001t0110g0253 a0001c0004t0004g0333	10	340	0.0294	-36	c.122 others(55): Show c.1225-1716_1225-1681delATATATATATATATATATATATATAT ATATATATAT		MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	12/16					chr17	TogoVar
MC1R_chr16_89913862_89925972	89914647	CTGTGTGT others(29): Show CTGTGTGTGTGTGCCTGTGTGTGGGGGTGCACATTTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01243.hp1 HG01255.hp2 others(22): Show HG01099.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01358.hp1 HG02258.hp1 HG02300.hp2 HG02572.hp2 HG02698.hp1 HG02976.hp1 HG03239.hp1 HG03540.hp1 HG03831.hp1 NA18940.hp1 NA18949.hp1 NA18955.hp2 NA18961.hp2 NA18995.hp2 NA18998.hp2 NA19009.hp2 NA19063.hp1 NA19086.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0014	a0001c0001 a0002c0002 a0006c0009 others(1): Show a0001c0001 a0002c0002 a0006c0009 a0014c0024	a0001c0001t0001 a0002c0002t0001 a0006c0009t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0006c0009t0001 a0014c0024t0001	a0001c0001t0001g0000 a0002c0002t0001g0000 a0006c0009t0001g0000 others(1): Show a0001c0001t0001g0000 a0002c0002t0001g0000 a0006c0009t0001g0000 a0014c0024t0001g0000	25	396	0.0631	-36	c.-46 others(47): Show c.-4611_-4576delTGTGTGTGTGTGCCTGTGTGTGGGGGTGCACATT TG		MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding				4214		chr16	TogoVar
MC1R_chr16_89913862_89925972	89914769	CTGTGTGT others(29): Show CTGTGTGTGTGGGTGCACATTTGTGTGTGTGTGCCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02280.hp1 HG03041.hp1 others(8): Show HG01891.hp2 HG02280.hp1 HG03041.hp1 HG03195.hp1 HG03225.hp2 HG03516.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0014 a0001c0003t0004 a0001c0001t0001 a0001c0001t0014 a0001c0003t0004	a0001c0001t0001g0000 a0001c0001t0014g0000 a0001c0003t0004g0000 a0001c0001t0001g0000 a0001c0001t0014g0000 a0001c0003t0004g0000	11	396	0.0278	-36	c.-44 others(47): Show c.-4489_-4454delTGTGTGTGTGGGTGCACATTTGTGTGTGTGTGCC TG		MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding				4092		chr16	TogoVar
MCCC2_chr5_71582340_71663706	71618488	TCTTCCTT others(29): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	350	0.0029	-36	c.625 others(53): Show c.625-8124_625-8089delCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTT		MCCC2	ENSG00000131844.17	transcript	ENST00000340941.11	protein_coding	6/16				INFO_REALIGN_3_PRIME	chr5	TogoVar
MCC_chr5_113017106_113493453	113299292	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01884.hp1 HG01891.hp1 others(12): Show HG01074.hp1 HG01884.hp1 HG01891.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02572.hp1 HG02572.hp2 HG02809.hp1 HG02809.hp2 HG02976.hp2 HG03041.hp2 HG03225.hp1 HG03516.hp2 HG04115.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0008 a0001c0010 a0001c0011 others(10): Show a0001c0008 a0001c0010 a0001c0011 a0001c0016 a0001c0024 a0001c0044 a0002c0013 a0003c0005 a0003c0014 a0003c0020 a0003c0031 a0003c0036 a0003c0040	a0001c0008t0017 a0001c0010t0018 a0001c0011t0004 others(11): Show a0001c0008t0017 a0001c0010t0018 a0001c0011t0004 a0001c0016t0006 a0001c0016t0023 a0001c0024t0009 a0001c0044t0010 a0002c0013t0003 a0003c0005t0012 a0003c0014t0010 a0003c0020t0020 a0003c0031t0021 a0003c0036t0007 a0003c0040t0001	a0001c0008t0017g0050 a0001c0010t0018g0049 a0001c0011t0004g0048 others(12): Show a0001c0008t0017g0050 a0001c0010t0018g0049 a0001c0011t0004g0048 a0001c0011t0004g0051 a0001c0016t0006g0052 a0001c0016t0023g0047 a0001c0024t0009g0056 a0001c0044t0010g0053 a0002c0013t0003g0141 a0003c0005t0012g0009 a0003c0014t0010g0010 a0003c0020t0020g0004 a0003c0031t0021g0003 a0003c0036t0007g0007 a0003c0040t0001g0008	15	160	0.0938	-36	c.627 others(55): Show c.627+41191_627+41226delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT		MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18					chr5	TogoVar
MCF2L2_chr3_183173041_183433619	183272190	CTAATAGA others(29): Show CTAATAGAGTAAGTTACATTTATTTTACAAAGCAGGA	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18612.hp2 NA18957.hp1 HG02056.hp2 NA18612.hp2 NA18957.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0007 a0003c0003 a0005c0007	a0003c0003t0015 a0005c0007t0001 a0005c0007t0002 a0003c0003t0015 a0005c0007t0001 a0005c0007t0002	a0003c0003t0015g0080 a0005c0007t0001g0069 a0005c0007t0002g0132 a0003c0003t0015g0080 a0005c0007t0001g0069 a0005c0007t0002g0132	3	176	0.0171	-36	c.186 others(55): Show c.1862+4646_1862+4681delTCCTGCTTTGTAAAATAAATGTAACT TACTCTATTA		MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	15/29					chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183351214	ATATATAT others(29): Show ATATATATATATATATATATATATTTATTTATTTATT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0012 a0004c0004t0012	a0004c0004t0012g0019 a0004c0004t0012g0019	1	176	0.0057	-36	c.276 others(53): Show c.276-9620_276-9585delAATAAATAAATAAATATATATATATATA TATATATA		MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	3/29					chr3	TogoVar
MCF2L_chr13_112964214_113104742	113033247	CGTGACAT others(29): Show CGTGACATTAGTGGACCCCGTGGCGTGAGTGGCCCCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0011 a0003c0009t0011	a0003c0009t0011g0101 a0003c0009t0011g0101	1	116	0.0086	-36	c.278 others(53): Show c.278+8529_278+8564delACATTAGTGGACCCCGTGGCGTGAGTGG CCCCTGTG		MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
MCTP1_chr5_94698690_95290094	95207942	AGAGAGGG others(29): Show AGAGAGGGAGAGAGAGGGAGAGAGAGGGAGAGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02055.hp2 HG02056.hp2 others(7): Show HG02027.hp1 HG02055.hp2 HG02056.hp2 HG02083.hp2 HG02135.hp2 HG03704.hp2 NA18612.hp1 NA18939.hp2 NA18952.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0003 a0001c0002t0001 a0001c0002t0012 others(5): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0012 a0001c0003t0003 a0001c0003t0005 a0001c0003t0010 a0001c0004t0001 a0001c0004t0006	a0001c0001t0003g0018 a0001c0001t0003g0021 a0001c0002t0001g0031 others(7): Show a0001c0001t0003g0018 a0001c0001t0003g0021 a0001c0002t0001g0031 a0001c0002t0012g0017 a0001c0003t0003g0025 a0001c0003t0003g0072 a0001c0003t0005g0026 a0001c0003t0010g0027 a0001c0004t0001g0020 a0001c0004t0006g0019	10	98	0.1020	-36	c.720 others(55): Show c.720+75878_720+75913delCCTCTCTCTCCCTCTCTCTCCCTCTC TCTCCCTCTC		MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	1/22					chr5	TogoVar
MCTP2_chr15_94226561_94488952	94298954	CCTCTCTC others(29): Show CCTCTCTCCCTCTCTCCCTCTCCCTCTCCCTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG00621.hp1 others(44): Show HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00738.hp1 HG01175.hp1 HG01255.hp1 HG01358.hp2 HG01496.hp1 HG01928.hp2 HG02129.hp1 HG02145.hp1 HG02165.hp2 HG02523.hp1 HG02602.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03098.hp2 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG04115.hp1 NA18747.hp2 NA18944.hp1 NA18947.hp1 NA18949.hp1 NA18951.hp1 NA18985.hp1 NA18989.hp1 NA18995.hp2 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19056.hp1 NA19064.hp2 NA19079.hp2 NA19081.hp2 NA20805.hp1 NA20805.hp2	a0002 a0007 a0002 a0007	a0002c0003 a0002c0004 a0002c0007 others(3): Show a0002c0003 a0002c0004 a0002c0007 a0002c0012 a0002c0019 a0007c0018	a0002c0003t0005 a0002c0003t0007 a0002c0003t0008 others(15): Show a0002c0003t0005 a0002c0003t0007 a0002c0003t0008 a0002c0003t0010 a0002c0003t0024 a0002c0003t0028 a0002c0003t0029 a0002c0003t0031 a0002c0004t0005 a0002c0004t0007 a0002c0004t0008 a0002c0004t0010 a0002c0007t0015 a0002c0007t0016 a0002c0012t0015 a0002c0012t0027 a0002c0019t0030 a0007c0018t0026	a0002c0003t0005g0012 a0002c0003t0005g0040 a0002c0003t0005g0073 others(44): Show a0002c0003t0005g0012 a0002c0003t0005g0040 a0002c0003t0005g0073 a0002c0003t0005g0192 a0002c0003t0007g0004 a0002c0003t0007g0027 a0002c0003t0007g0146 a0002c0003t0007g0212 a0002c0003t0007g0217 a0002c0003t0007g0262 a0002c0003t0008g0009 a0002c0003t0008g0014 a0002c0003t0008g0038 a0002c0003t0008g0042 a0002c0003t0008g0082 a0002c0003t0008g0201 a0002c0003t0010g0259 a0002c0003t0024g0077 a0002c0003t0028g0173 a0002c0003t0029g0139 a0002c0003t0031g0190 a0002c0004t0005g0169 a0002c0004t0005g0206 a0002c0004t0005g0208 a0002c0004t0005g0222 a0002c0004t0005g0229 a0002c0004t0005g0249 a0002c0004t0005g0251 a0002c0004t0005g0263 a0002c0004t0005g0271 a0002c0004t0007g0007 a0002c0004t0007g0043 a0002c0004t0008g0041 a0002c0004t0008g0113 a0002c0004t0008g0185 a0002c0004t0008g0221 a0002c0004t0010g0056 a0002c0004t0010g0063 a0002c0004t0010g0094 a0002c0004t0010g0132 a0002c0007t0015g0141 a0002c0007t0016g0059 a0002c0007t0016g0121 a0002c0012t0015g0187 a0002c0012t0027g0182 a0002c0019t0030g0070 a0007c0018t0026g0033	47	276	0.1703	-36	c.465 others(51): Show c.465+230_465+265delTCCCTCTCTCCCTCTCCCTCTCCCTCTCCC TCTCTC		MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	2/22				INFO_REALIGN_3_PRIME	chr15	TogoVar

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