JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MT4_chr16_56560073_56573957	56566721	A A	AGAAAGAA others(29): Show AGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	428	0.0023	36	c.32- others(51): Show c.32-1023_32-1022insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAAGAA	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MT4_chr16_56560073_56573957	56566789	A A	AGAAGGAA others(29): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	428	0.0023	36	c.32- others(49): Show c.32-959_32-958insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAA	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MT4_chr16_56560073_56573957	56566793	A A	AGAAAGAA others(29): Show AGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0368 a0001c0001t0001g0368	1	428	0.0023	36	c.32- others(49): Show c.32-943_32-942insGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAA AGAA	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MT4_chr16_56560073_56573957	56566793	A A	AGAAGGAA others(29): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01993.hp2 HG04199.hp1 others(5): Show HG01109.hp2 HG01993.hp2 HG04199.hp1 NA18969.hp1 NA18973.hp1 NA18997.hp2 NA19007.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0206 a0001c0001t0001g0217 others(4): Show a0001c0001t0001g0015 a0001c0001t0001g0206 a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0389	8	428	0.0187	36	c.32- others(49): Show c.32-955_32-954insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAA	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MT4_chr16_56560073_56573957	56566797	A A	AGAAGGAA others(29): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	428	0.0023	36	c.32- others(49): Show c.32-951_32-950insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAA	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MT4_chr16_56560073_56573957	56566801	A A	AGAAAGAA others(29): Show AGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	428	0.0023	36	c.32- others(49): Show c.32-943_32-942insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA AGAA	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTA3_chr2_42563632_42761946	42594728	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02148.hp2 HG01943.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0196 a0001c0001t0002g0179 a0001c0001t0002g0196	2	312	0.0064	36	c.191 others(55): Show c.191-14729_191-14728insATATATATATATATATATATATATAT ATATATTTTT	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTA3_chr2_42563632_42761946	42606199	A A	ACCCCCCC others(29): Show ACCCCCCCCCCACCTCCCTCCCGGACGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA20129.hp1 HG02559.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0278 a0001c0001t0009g0279 a0001c0001t0009g0278 a0001c0001t0009g0279	2	312	0.0064	36	c.191 others(53): Show c.191-3250_191-3249insCACCTCCCTCCCGGACGGGGGGCTGACC CCCCCCCC	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTAP_chr9_21797636_21872081	21802985	A A	AACACACA others(29): Show AACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0019	1	382	0.0026	36	c.33+ others(49): Show c.33+221_33+256dupACACACACACACACACACACACACACACACAC ACAC	MTAP	ENSG00000099810.21	transcript	ENST00000644715.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
MTCH2_chr11_47612317_47647559	47633505	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03942.hp2 HG01175.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	2	370	0.0054	36	c.369 others(53): Show c.369+1166_369+1167insATATATATATATATATATATATATATAT ATATATAT	MTCH2	ENSG00000109919.10	transcript	ENST00000302503.8	protein_coding	5/12			chr11	TogoVar
MTCH2_chr11_47612317_47647559	47633526	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0050 a0002c0002t0001g0050	1	370	0.0027	36	c.369 others(53): Show c.369+1145_369+1146insAATATATATATATATATATATATATATA TATATATA	MTCH2	ENSG00000109919.10	transcript	ENST00000302503.8	protein_coding	5/12			chr11	TogoVar
MTCL1_chr18_8700556_8837778	8805102	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0120 a0003c0120	a0003c0120t0001 a0003c0120t0001	a0003c0120t0001g0038 a0003c0120t0001g0038	1	336	0.0030	36	c.351 others(55): Show c.3517-1774_3517-1773insTATATATATATATATATATATATATA TATATATATA	MTCL1	ENSG00000168502.18	transcript	ENST00000695636.1	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr18	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	370	0.0027	36	c.104 others(55): Show c.1049-2624_1049-2623insAAAAAAAAAAAAAAAAAAAAAATATA TATATATATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02895.hp2 NA19079.hp2 HG00741.hp1 HG02895.hp2 NA19079.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0001 a0001c0001t0009 a0005c0010t0092 a0001c0001t0001 a0001c0001t0009 a0005c0010t0092	a0001c0001t0001g0107 a0001c0001t0009g0052 a0005c0010t0092g0247 a0001c0001t0001g0107 a0001c0001t0009g0052 a0005c0010t0092g0247	3	370	0.0081	36	c.104 others(55): Show c.1049-2624_1049-2623insAAAAAAAAAAAAAAAAAAAATATATA TATATATATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA18940.hp2 NA18947.hp1 others(3): Show HG01952.hp2 NA18940.hp2 NA18947.hp1 NA18967.hp2 NA19088.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0050 a0001c0001t0001 a0001c0001t0050	a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0041 others(3): Show a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0095 a0001c0001t0050g0044	6	370	0.0162	36	c.104 others(55): Show c.1049-2624_1049-2623insAAAAAAAAAAAAAAAAAATATATATA TATATATATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01258.hp1 HG03491.hp2 HG01123.hp1 HG01258.hp1 HG03491.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0012 a0001c0001 a0008c0012	a0001c0001t0001 a0008c0012t0015 a0001c0001t0001 a0008c0012t0015	a0001c0001t0001g0033 a0001c0001t0001g0103 a0008c0012t0015g0246 a0001c0001t0001g0033 a0001c0001t0001g0103 a0008c0012t0015g0246	3	370	0.0081	36	c.104 others(55): Show c.1049-2624_1049-2623insAAAAAAAAAAAAAAAATATATATATA TATATATATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250615	C C	CAGAAGAA others(29): Show CAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA19030.hp2 HG01358.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0155 a0001c0001t0001g0129 a0001c0001t0001g0155	2	294	0.0068	36	c.677 others(51): Show c.677+255_677+290dupTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCT	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250681	A A	AAGGAGGA others(29): Show AAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	294	0.0034	36	c.677 others(51): Show c.677+224_677+225insCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCT	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MTFR1L_chr1_25814954_25837938	25819427	T T	TGAGAGAG others(29): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 NA19030.hp1 HG02922.hp2 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0012 a0001c0003t0003g0012	2	402	0.0050	36	c.-68 others(45): Show c.-689_-688insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	MTFR1L	ENSG00000117640.18	transcript	ENST00000374303.7	protein_coding		526		chr1	TogoVar
MTHFD1L_chr6_150860702_151106887	150932812	G G	GAAGGAGG others(29): Show GAAGGAGGGAGGAAGGAAGGAAAGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02273.hp2 HG02886.hp2 others(5): Show HG01123.hp2 HG02273.hp2 HG02886.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0002t0001 a0001c0002t0021 a0002c0005t0001	a0001c0001t0001g0156 a0001c0001t0002g0009 a0001c0001t0006g0160 others(5): Show a0001c0001t0001g0156 a0001c0001t0002g0009 a0001c0001t0006g0160 a0001c0001t0012g0161 a0001c0001t0013g0183 a0001c0002t0001g0135 a0001c0002t0021g0095 a0002c0005t0001g0085	8	226	0.0354	36	c.125 others(55): Show c.1257-3991_1257-3990insAGGAGGGAGGAAGGAAGGAAAGAAGG AAGGAAGGAA	MTHFD1L	ENSG00000120254.16	transcript	ENST00000367321.8	protein_coding	11/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
MTHFD1_chr14_64383353_64465025	64429261	A A	AACATATA others(29): Show AACATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18939.hp2 NA19030.hp1 others(1): Show HG02486.hp2 NA18939.hp2 NA19030.hp1 NA19240.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0005c0005 a0001c0001 a0003c0003 a0005c0005	a0001c0001t0001 a0003c0003t0001 a0005c0005t0001 a0001c0001t0001 a0003c0003t0001 a0005c0005t0001	a0001c0001t0001g0127 a0001c0001t0001g0341 a0003c0003t0001g0180 others(1): Show a0001c0001t0001g0127 a0001c0001t0001g0341 a0003c0003t0001g0180 a0005c0005t0001g0063	4	342	0.0117	36	c.126 others(53): Show c.1265-922_1265-921insCATATATATATATATATATATATATATA TATATATA	MTHFD1	ENSG00000100714.18	transcript	ENST00000652337.1	protein_coding	12/27		INFO_REALIGN_3_PRIME	chr14	TogoVar
MTHFD1_chr14_64383353_64465025	64458536	A A	AGGTTGAC others(29): Show AGGTTGACAGTGTAGGGGGGGGGGGGGGAGGGGGGGG	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0163 a0003c0003t0001g0163	1	342	0.0029	36	c.4+ others(49): Show c.4+246_*4+247insGGGGGGGGGGAGGGGGGGGGGTTGACAGTGTA GGGG	MTHFD1	ENSG00000100714.18	transcript	ENST00000652337.1	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr14	TogoVar
MTHFD2L_chr4_74153118_74308099	74188682	A A	ATATATAT others(29): Show ATATATATATATGTGTATGCATATGTATATATATGGG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	200	0.0050	36	c.452 others(55): Show c.452-11103_452-11102insATGTGTATGCATATGTATATATATGG GTATATATAT	MTHFD2L	ENSG00000163738.19	transcript	ENST00000325278.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTMR12_chr5_32222007_32317939	32228599	T T	TATCACAT others(29): Show TATCACATATATATGATATATGTGATATATATATCAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0005 a0001c0001t0027g0005	2	364	0.0055	36	c.11 others(47): Show c.1178_*1179insGTGATATATATATCACATATATCATATATATGTG AT	MTMR12	ENSG00000150712.11	transcript	ENST00000382142.8	protein_coding	16/16	1178		chr5	TogoVar
MTMR12_chr5_32222007_32317939	32228607	T T	TATATATC others(29): Show TATATATCATATATATGTGATATATATATATATATCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(101): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp2 HG01109.hp2 HG01123.hp2 HG01169.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp2 HG01943.hp1 HG01952.hp1 HG02015.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02165.hp2 HG02451.hp1 HG02738.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG03098.hp1 HG03209.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG06807.hp2 NA18939.hp1 NA18940.hp1 NA18942.hp2 NA18944.hp2 NA18948.hp2 NA18950.hp1 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18984.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19055.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19076.hp1 NA19080.hp1 NA19088.hp2 NA19089.hp1 NA19091.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0010 a0005c0007 others(1): Show a0001c0001 a0001c0010 a0005c0007 a0007c0006	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 others(9): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0001c0001t0021 a0001c0001t0031 a0001c0001t0032 a0001c0001t0046 a0001c0001t0053 a0001c0001t0057 a0001c0010t0001 a0005c0007t0001 a0007c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0028 others(100): Show a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0274 a0001c0001t0001g0347 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0008g0068 a0001c0001t0008g0069 a0001c0001t0008g0070 a0001c0001t0008g0090 a0001c0001t0008g0094 a0001c0001t0008g0131 a0001c0001t0011g0026 a0001c0001t0011g0027 a0001c0001t0011g0042 a0001c0001t0011g0043 a0001c0001t0011g0196 a0001c0001t0021g0080 a0001c0001t0021g0088 a0001c0001t0031g0104 a0001c0001t0032g0112 a0001c0001t0046g0029 a0001c0001t0053g0351 a0001c0001t0057g0359 a0001c0010t0001g0167 a0005c0007t0001g0084 a0007c0006t0001g0072	104	364	0.2857	36	c.11 others(47): Show c.1170_*1171insTGATATATATATATATATCACATATATATGATAT AT	MTMR12	ENSG00000150712.11	transcript	ENST00000382142.8	protein_coding	16/16	1170		chr5	TogoVar
MTMR3_chr22_29878174_30035868	29954059	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0250 a0001c0002t0011g0250	1	334	0.0030	36	c.-13 others(55): Show c.-137-2953_-137-2952insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	MTMR3	ENSG00000100330.16	transcript	ENST00000401950.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr22	TogoVar
MTMR6_chr13_25241222_25292488	25288923	C C	CACATATA others(29): Show CACATATATATATATATATATATATACACATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0282 a0001c0002t0008g0282	1	346	0.0029	36	c.-16 others(47): Show c.-1677_-1676insATATATATGTGTATATATATATATATATATATAT GT	MTMR6	ENSG00000139505.13	transcript	ENST00000381801.6	protein_coding		1436		chr13	TogoVar
MTR_chr1_236790292_236908981	236897300	C C	CCACACAC others(29): Show CCACACACATGCGCGCGCGCGCACGCGCGCGCACACA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0107 a0002c0003t0005g0107	1	372	0.0027	36	c.371 others(53): Show c.3711+190_3711+191insTGCGCGCGCGCGCACGCGCGCGCACACA CACACACA	MTR	ENSG00000116984.15	transcript	ENST00000366577.10	protein_coding	32/32		INFO_REALIGN_3_PRIME	chr1	TogoVar
MTSS1_chr8_124545784_124733473	124602188	C C	CATATATA others(29): Show CATATATATATATATATATACACACACACACACATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	286	0.0035	36	c.209 others(55): Show c.209-10954_209-10953insATATGTGTGTGTGTGTGTATATATAT ATATATATAT	MTSS1	ENSG00000170873.19	transcript	ENST00000518547.6	protein_coding	3/13			chr8	TogoVar
MTSS1_chr8_124545784_124733473	124602188	C C	CATATATA others(29): Show CATATATATATATATATATACACACACATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG02145.hp1 others(4): Show HG01109.hp1 HG01243.hp1 HG02145.hp1 HG02257.hp2 HG02451.hp1 HG02615.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0015 a0001c0001t0002g0155 a0001c0001t0002g0214 others(4): Show a0001c0001t0001g0015 a0001c0001t0002g0155 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0003t0001g0176 a0001c0003t0002g0033	7	286	0.0245	36	c.209 others(55): Show c.209-10954_209-10953insATATATATATGTGTGTGTATATATAT ATATATATAT	MTSS1	ENSG00000170873.19	transcript	ENST00000518547.6	protein_coding	3/13			chr8	TogoVar
MTUS2_chr13_28815339_29510947	29286672	G G	GTCTATCT others(29): Show GTCTATCTATCTATCTATCTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0021 a0001c0001t0005g0021	1	92	0.0109	36	c.280 others(55): Show c.2806+4834_2806+4835insATCTATCTATCTATCTATCTATCTAT CTATCTATCT	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
MTUS2_chr13_28815339_29510947	29286672	G G	GTCTGTCT others(29): Show GTCTGTCTATCTATCTATCTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	92	0.0109	36	c.280 others(55): Show c.2806+4810_2806+4811insGTCTATCTATCTATCTATCTATCTAT CTATCTATCT	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
MTUS2_chr13_28815339_29510947	29383244	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0007 a0007	a0007c0004 a0007c0004	a0007c0004t0001 a0007c0004t0001	a0007c0004t0001g0088 a0007c0004t0001g0088	1	92	0.0109	36	c.311 others(57): Show c.3117+23772_3117+23773insATATATATATATATATATATATAT ATATATTTATTT	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
MTUS2_chr13_28815339_29510947	29383250	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp2 HG03130.hp2 others(1): Show HG01891.hp2 HG02258.hp2 HG03130.hp2 NA20129.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 others(1): Show a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 a0003c0003t0004	a0002c0002t0003g0012 a0002c0002t0004g0008 a0002c0002t0011g0064 others(1): Show a0002c0002t0003g0012 a0002c0002t0004g0008 a0002c0002t0011g0064 a0003c0003t0004g0061	4	92	0.0435	36	c.311 others(57): Show c.3117+23778_3117+23779insATATATATATATATATATATATAT TTATTTATTTAT	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
MUC4_chr3_195741771_195816929	195767736	C C	CCACCACC others(29): Show CCACCACCATCACCACCATCATTGCCACCACCATCAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03098.hp1 HG02486.hp1 HG03098.hp1	a0049 a0050 a0049 a0050	a0049c0145 a0050c0147 a0049c0145 a0050c0147	a0049c0145t0008 a0050c0147t0004 a0049c0145t0008 a0050c0147t0004	a0049c0145t0008g0055 a0050c0147t0004g0231 a0049c0145t0008g0055 a0050c0147t0004g0231	2	249	0.0080	36	c.135 others(55): Show c.13530-986_13530-985insATGATGGTGGTGGCAATGATGGTGGT GATGGTGGTG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	7/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195812568	T T	TCCAGACG others(29): Show TCCAGACGCGTGGCAGACCCCAGACGCGTGGCAGACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00741.hp2 HG01167.hp2 others(41): Show HG00639.hp1 HG00741.hp2 HG01167.hp2 HG01192.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp2 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01975.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02895.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG03834.hp2 NA18906.hp2 NA18955.hp1 NA18974.hp1 NA19043.hp1 NA19066.hp1 NA19070.hp1 NA19074.hp1	a0007 a0014 a0015 others(38): Show a0007 a0014 a0015 a0016 a0048 a0050 a0057 a0058 a0059 a0060 a0061 a0062 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0071 a0072 a0073 a0078 a0079 a0080 a0081 a0082 a0083 a0084 a0085 a0086 a0087 a0088 a0089 a0090 a0091 a0092 a0093 a0094 a0096 a0104	a0007c0007 a0014c0022 a0015c0023 others(38): Show a0007c0007 a0014c0022 a0015c0023 a0016c0024 a0048c0146 a0050c0147 a0057c0148 a0058c0200 a0059c0201 a0060c0199 a0061c0198 a0062c0197 a0064c0195 a0065c0196 a0066c0177 a0067c0194 a0068c0171 a0069c0172 a0070c0174 a0071c0175 a0072c0173 a0073c0176 a0078c0193 a0079c0192 a0080c0170 a0081c0189 a0082c0191 a0083c0190 a0084c0187 a0085c0188 a0086c0185 a0087c0184 a0088c0180 a0089c0182 a0090c0186 a0091c0181 a0092c0183 a0093c0179 a0094c0178 a0096c0130 a0104c0030	a0007c0007t0003 a0014c0022t0004 a0015c0023t0003 others(38): Show a0007c0007t0003 a0014c0022t0004 a0015c0023t0003 a0016c0024t0003 a0048c0146t0004 a0050c0147t0004 a0057c0148t0008 a0058c0200t0015 a0059c0201t0009 a0060c0199t0009 a0061c0198t0008 a0062c0197t0009 a0064c0195t0003 a0065c0196t0003 a0066c0177t0004 a0067c0194t0012 a0068c0171t0005 a0069c0172t0005 a0070c0174t0002 a0071c0175t0005 a0072c0173t0004 a0073c0176t0005 a0078c0193t0003 a0079c0192t0004 a0080c0170t0005 a0081c0189t0011 a0082c0191t0005 a0083c0190t0004 a0084c0187t0003 a0085c0188t0003 a0086c0185t0003 a0087c0184t0003 a0088c0180t0003 a0089c0182t0003 a0090c0186t0003 a0091c0181t0003 a0092c0183t0003 a0093c0179t0012 a0094c0178t0004 a0096c0130t0004 a0104c0030t0005	a0007c0007t0003g0209 a0014c0022t0004g0245 a0014c0022t0004g0246 others(41): Show a0007c0007t0003g0209 a0014c0022t0004g0245 a0014c0022t0004g0246 a0015c0023t0003g0210 a0015c0023t0003g0212 a0016c0024t0003g0219 a0016c0024t0003g0221 a0048c0146t0004g0233 a0050c0147t0004g0231 a0057c0148t0008g0198 a0058c0200t0015g0234 a0059c0201t0009g0237 a0060c0199t0009g0224 a0061c0198t0008g0222 a0062c0197t0009g0243 a0064c0195t0003g0207 a0065c0196t0003g0208 a0066c0177t0004g0226 a0067c0194t0012g0239 a0068c0171t0005g0229 a0069c0172t0005g0230 a0070c0174t0002g0211 a0071c0175t0005g0227 a0072c0173t0004g0225 a0073c0176t0005g0228 a0078c0193t0003g0213 a0079c0192t0004g0242 a0080c0170t0005g0240 a0081c0189t0011g0206 a0082c0191t0005g0244 a0083c0190t0004g0241 a0084c0187t0003g0216 a0085c0188t0003g0218 a0086c0185t0003g0217 a0087c0184t0003g0215 a0088c0180t0003g0204 a0089c0182t0003g0223 a0090c0186t0003g0220 a0091c0181t0003g0214 a0092c0183t0003g0205 a0093c0179t0012g0236 a0094c0178t0004g0235 a0096c0130t0004g0238 a0104c0030t0005g0232	44	249	0.1767	36	c.-75 others(45): Show c.-752_-751insGGTCTGCCACGCGTCTGGGGTCTGCCACGCGTCTGG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding		640		chr3	TogoVar
MUCL1_chr12_54849516_54863387	54861707	A A	ATAAAGCT others(29): Show ATAAAGCTGTAGGATAAAATCCTAGGAATAGAATTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	430	0.0023	36	c.34 others(47): Show c.3465_*3466insTAAAGCTGTAGGATAAAATCCTAGGAATAGAATT GC	MUCL1	ENSG00000172551.12	transcript	ENST00000308796.11	protein_coding		3321		chr12	TogoVar
MUCL3_chr6_30935973_30959221	30943320	T T	TAGGTGCA others(29): Show TAGGTGCAGTCCAGATTAAGTCACCAGAGGGAGGCAC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0103 a0001c0001t0005g0103	1	441	0.0023	36	c.82+ others(51): Show c.82+2250_82+2285dupCAGATTAAGTCACCAGAGGGAGGCACAGGT GCAGTC	MUCL3	ENSG00000168631.14	transcript	ENST00000462446.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
MUSK_chr9_110663791_110811558	110690191	T T	TAAATATA others(29): Show TAAATATATAAATATATAAATATATATTTAAGTATAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02976.hp2 NA19043.hp1 HG01109.hp1 HG02976.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0165 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0165	3	326	0.0092	36	c.358 others(53): Show c.358+2924_358+2925insAATATATAAATATATAAATATATATTTA AGTATAAA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690834	A A	ATATTTAA others(29): Show ATATTTAAATATAAGTATATATATAAATATATATATT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02965.hp1 HG02559.hp2 HG02965.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0006 a0001c0010t0006	a0001c0010t0006g0131 a0001c0010t0006g0132 a0001c0010t0006g0131 a0001c0010t0006g0132	2	326	0.0061	36	c.358 others(53): Show c.358+3568_358+3569insTTTAAATATAAGTATATATATAAATATA TATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110755937	T T	TATATATA others(29): Show TATATATATATACATATATATATACATATATATATAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02698.hp2 HG03239.hp2 others(10): Show HG01361.hp1 HG02698.hp2 HG03239.hp2 HG03688.hp1 HG03834.hp2 HG04228.hp2 NA18946.hp2 NA18971.hp1 NA18989.hp2 NA19056.hp2 NA19065.hp2 NA19087.hp1 NA19088.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0002 a0002c0012 others(3): Show a0001c0001 a0001c0002 a0002c0012 a0005c0005 a0005c0013 a0006c0008	a0001c0001t0008 a0001c0002t0008 a0002c0012t0005 others(4): Show a0001c0001t0008 a0001c0002t0008 a0002c0012t0005 a0005c0005t0002 a0005c0005t0008 a0005c0013t0008 a0006c0008t0007	a0001c0001t0008g0003 a0001c0001t0008g0259 a0001c0001t0008g0277 others(9): Show a0001c0001t0008g0003 a0001c0001t0008g0259 a0001c0001t0008g0277 a0001c0002t0008g0075 a0001c0002t0008g0114 a0002c0012t0005g0073 a0005c0005t0002g0072 a0005c0005t0008g0118 a0005c0005t0008g0184 a0005c0013t0008g0119 a0005c0013t0008g0120 a0006c0008t0007g0150	13	326	0.0399	36	c.914 others(53): Show c.914-6254_914-6253insCATATATATATACATATATATATACATA TATATATA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MVK_chr12_109568794_109603125	109600916	T T	TACACACA others(29): Show TACACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 NA18973.hp2 NA19058.hp2 others(2): Show HG03139.hp2 NA18973.hp2 NA19058.hp2 NA19060.hp1 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0011 a0001c0002t0002g0014 others(1): Show a0001c0002t0002g0007 a0001c0002t0002g0011 a0001c0002t0002g0014 a0001c0002t0002g0066	5	382	0.0131	36	c.43 others(47): Show c.4339_*4340insACACACACACACACACACACACACACACACACAC AC	MVK	ENSG00000110921.14	transcript	ENST00000228510.8	protein_coding		2792		chr12	TogoVar
MVP_chr16_29815462_29853021	29843546	A A	AAGGGAGG others(29): Show AAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA19240.hp1 HG03669.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0221 a0001c0001t0001g0173 a0001c0001t0001g0221	2	230	0.0087	36	c.163 others(53): Show c.1635-940_1635-939insAAGGGAGGAAGGGAGGAAGGGAGGGAGG GAGGGAGG	MVP	ENSG00000013364.19	transcript	ENST00000357402.10	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
MVP_chr16_29815462_29853021	29843582	A A	AAGGGAGG others(29): Show AAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18964.hp2 NA19062.hp1 HG02132.hp2 NA18964.hp2 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0044 a0001c0002t0001g0050 a0001c0002t0001g0051	3	230	0.0130	36	c.163 others(53): Show c.1635-887_1635-886insAGGGAGGGAGGGAGGGAGGAAGGGAGGG AGGGAGGG	MVP	ENSG00000013364.19	transcript	ENST00000357402.10	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
MXRA5_chrX_3303565_3351652	3326046	A A	AATATATT others(29): Show AATATATTTATATATATTTATACATAAATACATTTAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG02055.hp1 others(8): Show HG01243.hp1 HG01884.hp1 HG02055.hp1 HG02109.hp1 HG02280.hp2 HG02572.hp1 HG02818.hp1 HG02976.hp1 HG03486.hp2 HG06807.hp2 NA18906.hp2	a0001 a0005 a0019 others(2): Show a0001 a0005 a0019 a0022 a0030	a0001c0001 a0005c0005 a0005c0044 others(3): Show a0001c0001 a0005c0005 a0005c0044 a0019c0037 a0022c0019 a0030c0040	a0001c0001t0001 a0005c0005t0002 a0005c0044t0002 others(3): Show a0001c0001t0001 a0005c0005t0002 a0005c0044t0002 a0019c0037t0001 a0022c0019t0001 a0030c0040t0001	a0001c0001t0001g0019 a0001c0001t0001g0021 a0005c0005t0002g0163 others(8): Show a0001c0001t0001g0019 a0001c0001t0001g0021 a0005c0005t0002g0163 a0005c0005t0002g0177 a0005c0005t0002g0179 a0005c0005t0002g0180 a0005c0005t0002g0181 a0005c0044t0002g0182 a0019c0037t0001g0164 a0022c0019t0001g0133 a0030c0040t0001g0018	11	284	0.0387	36	c.710 others(53): Show c.710-1107_710-1072dupATAAATGTATTTATGTATAAATATATAT AAATATAT	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	4/6			chrX	TogoVar
MXRA5_chrX_3303565_3351652	3329454	A A	AAGATGAA others(29): Show AAGATGAAGGAAGGGGAGAGAAGGAAGGAAGGAAGGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(115): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02055.hp1 HG02056.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03579.hp1 HG03704.hp2 HG03942.hp1 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18953.hp1 NA18957.hp2 NA18960.hp1 NA18966.hp1 NA18968.hp1 NA18971.hp1 NA18973.hp1 NA18977.hp1 NA18980.hp1 NA18984.hp1 NA18987.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19054.hp2 NA19056.hp1 NA19062.hp1 NA19063.hp1 NA19067.hp1 NA19076.hp1 NA19079.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19090.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(13): Show a0001 a0002 a0005 a0006 a0007 a0008 a0011 a0014 a0015 a0016 a0018 a0019 a0030 a0031 a0033 a0035	a0001c0001 a0001c0038 a0002c0002 others(15): Show a0001c0001 a0001c0038 a0002c0002 a0005c0005 a0005c0044 a0006c0008 a0007c0006 a0008c0013 a0011c0009 a0014c0015 a0015c0010 a0016c0045 a0018c0041 a0019c0037 a0030c0040 a0031c0039 a0033c0046 a0035c0017	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(19): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0038t0001 a0002c0002t0001 a0005c0005t0002 a0005c0044t0002 a0006c0008t0003 a0007c0006t0001 a0008c0013t0002 a0011c0009t0002 a0011c0009t0007 a0014c0015t0006 a0015c0010t0001 a0016c0045t0001 a0018c0041t0001 a0019c0037t0001 a0030c0040t0001 a0031c0039t0005 a0033c0046t0001 a0035c0017t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 others(113): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0124 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0224 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0004g0248 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0262 a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0011g0042 a0001c0038t0001g0041 a0002c0002t0001g0061 a0005c0005t0002g0135 a0005c0005t0002g0163 a0005c0005t0002g0177 a0005c0005t0002g0179 a0005c0005t0002g0180 a0005c0005t0002g0181 a0005c0044t0002g0182 a0006c0008t0003g0159 a0006c0008t0003g0160 a0007c0006t0001g0174 a0007c0006t0001g0175 a0007c0006t0001g0176 a0007c0006t0001g0233 a0008c0013t0002g0185 a0011c0009t0002g0017 a0011c0009t0002g0161 a0011c0009t0007g0162 a0014c0015t0006g0172 a0014c0015t0006g0183 a0015c0010t0001g0270 a0015c0010t0001g0271 a0016c0045t0001g0144 a0018c0041t0001g0184 a0019c0037t0001g0164 a0030c0040t0001g0018 a0031c0039t0005g0013 a0033c0046t0001g0269 a0035c0017t0001g0242	118	284	0.4155	36	c.709 others(51): Show c.709+563_709+564insGCCTTCCTTCCTTCCTTCTCTCCCCTTCCT TCATCT	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	4/6			chrX	TogoVar
MYADM_chr19_53862883_53881435	53870043	G G	GGGGGTCT others(29): Show GGGGGTCTGGACTCCGGGGTCCGAGGGAGGAGGGGCT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18960.hp1 NA18994.hp2 NA18953.hp1 NA18960.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0013 a0001c0001t0003g0013 a0001c0001t0001g0013 a0001c0001t0003g0013	3	378	0.0079	36	c.-3+ others(49): Show c.-3+220_-3+255dupGGGGTCCGAGGGAGGAGGGGCTGGGGTCTGGA CTCC	MYADM	ENSG00000179820.16	transcript	ENST00000391770.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
MYADM_chr19_53862883_53881435	53870376	C C	CCTGGACT others(29): Show CCTGGACTCCGGGGTCCGAGGGAGGAGGGGCTGGGGT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0070 a0001c0001t0045g0070	1	378	0.0027	36	c.-3+ others(49): Show c.-3+542_-3+543insACTCCGGGGTCCGAGGGAGGAGGGGCTGGGGT CTGG	MYADM	ENSG00000179820.16	transcript	ENST00000391770.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
MYBBP1A_chr17_4533904_4560384	4540924	A A	AGGCCCCG others(29): Show AGGCCCCGTCCCGGGCCCCGTCCCGGGCCCCGTCCCG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0238 a0003c0003t0002g0238	1	474	0.0021	36	c.329 others(53): Show c.3298-441_3298-440insCGGGACGGGGCCCGGGACGGGGCCCGGG ACGGGGCC	MYBBP1A	ENSG00000132382.15	transcript	ENST00000254718.9	protein_coding	24/25			chr17	TogoVar
MYBPC1_chr12_101589971_101691028	101591771	T T	TCTTCTCC others(29): Show TCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0114 a0001c0008t0002g0114	1	360	0.0028	36	c.-33 others(47): Show c.-3300_-3299insCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TC	MYBPC1	ENSG00000196091.15	transcript	ENST00000361466.7	protein_coding		3199		chr12	TogoVar

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