Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
LMF2_chr22_50497949_50512702	50504140	A A	ACCCCCCC others(94): Show ACCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCCCCGCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCAAACCC CC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	88	0.0114	101	c.171 others(118): Show c.1718+199_1718+200insGGGGGTTTGGAGCCCGGGGTGCAGGGGT AAGGCCGGGCACCGGCGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTA AGGCCGGGCACCGGGGGGGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LOC114841035_chr11_64236095_64249132	64237123	G G	GAGAGAGA others(94): Show GAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGATATATATATATATATATATATATATATA TA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	252	0.0040	101	c.-41 others(112): Show c.-4157_-4156insAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATAT ATATATATATATATATA	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		3971		chr11	TogoVar
LOC114841035_chr11_64236095_64249132	64237123	G G	GAGAGAGA others(94): Show GAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGATATATATATATATATATATATATATATATATATATA TA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	252	0.0040	101	c.-41 others(112): Show c.-4157_-4156insAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATATAT ATATATATATATATATA	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		3971		chr11	TogoVar
LOC128125818_chr4_6059977_6075162	6067579	G G	GCACTCAA others(94): Show GCACTCAAGCTCTTCCGCACACACAGGTCACCCCCCTGAGCTCCAGGTTC ACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAGG TT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00733.hp2 others(23): Show HG00280.hp2 HG00323.hp1 HG00733.hp2 HG01106.hp2 HG02004.hp2 HG02056.hp2 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02698.hp2 HG03491.hp2 HG03710.hp2 HG03834.hp1 HG04228.hp2 NA18941.hp1 NA18945.hp1 NA18962.hp2 NA18964.hp2 NA18969.hp1 NA18971.hp1 NA18978.hp2 NA18982.hp1 NA18994.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0042 others(9): Show a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0042 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0134 a0001c0001t0001g0149 a0001c0001t0001g0165 a0001c0001t0001g0187 a0001c0001t0001g0188	26	381	0.0682	101	c.106 others(118): Show c.106+2477_106+2478insAACCTGGAGCTCAGGGGGTGACCTGTGT GTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCT GTGTGTGCGGAAGAGCTTGAGTG	LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1			chr4	TogoVar
LOC128125818_chr4_6059977_6075162	6067579	G G	GCACTCAA others(94): Show GCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTC ACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAGG TT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03017.hp1 HG03486.hp1 others(7): Show HG02135.hp2 HG03017.hp1 HG03486.hp1 HG03654.hp2 HG03688.hp1 HG04199.hp2 NA18959.hp2 NA18977.hp2 NA19077.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0051 others(4): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0051 a0001c0001t0001g0081 a0001c0001t0001g0144 a0001c0001t0001g0161 a0001c0001t0001g0223	10	365	0.0274	101	c.106 others(118): Show c.106+2377_106+2477dupAACCTGGAGCTCAGGGGGTGACCTGTGT GTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCT GTGTGTGCAGAAGAGCTTGAGTG	LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1			chr4	TogoVar
LOC128125818_chr4_6059977_6075162	6067579	G G	GCACTCAA others(94): Show GCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTC ACTCAAGCTCTTCTGCACACGCACACACAGGTCACCCCCTGAGCTCCAGG TT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	2	357	0.0056	101	c.106 others(118): Show c.106+2477_106+2478insAACCTGGAGCTCAGGGGGTGACCTGTGT GTGCGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCT GTGTGTGCAGAAGAGCTTGAGTG	LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1			chr4	TogoVar
LOC128125818_chr4_6059977_6075162	6067624	G G	GGTTCACT others(94): Show GGTTCACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCT CCAGGTTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCC AC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02896.hp2 HG02897.hp2 others(1): Show HG02809.hp2 HG02896.hp2 HG02897.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	4	459	0.0087	101	c.106 others(118): Show c.106+2332_106+2432dupGTGGAGCTCAGGGGGGTGACCTGTGTGT GCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTGTGTGTGTG TGTGCAGAAGAGCTTGAGTGAAC	LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1			chr4	TogoVar
LOC400499_chr16_11367015_11532247	11493824	A A	AGGGGCAG others(94): Show AGGGGCAGTGGCGTGGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGT GGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGG GC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0205 a0205	a0205c0065 a0205c0065	a0205c0065t0002 a0205c0065t0002	a0205c0065t0002g0067 a0205c0065t0002g0067	1	260	0.0038	101	c.143 others(116): Show c.1432-29_1432-28insGCCCCCCACGCCACTGCCCCGCCCCCCACG CCACTGCCCCGCCCCCCACGCCACTGCCCCGCCCCCCACGCCACTGCCCC GCCCCCCCACGCCACTGCCCC	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	11/66			chr16	TogoVar
LRBA_chr4_150259435_151020284	150660253	T T	TGGGGGGG others(94): Show TGGGGGGGGTCGGCCCCCCGCCCGACCAGCCGCCCCATCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGG TG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0015 a0015	a0015c0028 a0015c0028	a0015c0028t0001 a0015c0028t0001	a0015c0028t0001g0118 a0015c0028t0001g0118	1	178	0.0056	101	c.592 others(122): Show c.5921+23297_5921+23298insCACCTCCCTCCCGGACAGGGCGGC TGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGC TGGTCGGGCGGGGGGCCGACCCCCCCC	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56			chr4	TogoVar
LRP1B_chr2_140226423_142136016	140228373	T T	TATATTCC others(94): Show TATATTCCATATATATAAATATATATTCCATATATATAAATATATATTCC ATATATATAAATATATATTCCATATATATAAATATATATTCCATATATAT AA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0011 a0001c0010t0011	a0001c0010t0011g0028 a0001c0010t0011g0028	1	24	0.0417	101	c.48 others(112): Show c.4812_*4813insTTATATATATGGAATATATATTTATATATATGGA ATATATATTTATATATATGGAATATATATTTATATATATGGAATATATAT TTATATATATGGAATAT	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding		3049		chr2	TogoVar
LRP1B_chr2_140226423_142136016	140228398	T T	TATATTCC others(94): Show TATATTCCATATATATAAATATATATTCCATATATATAAATATATATTCC ATATATATAAATATATATTCCATATATATAAATATATATTCCATATATAT AA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG03225.hp2 NA19240.hp1 HG02145.hp1 HG03225.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0018 a0001c0022 a0002c0006 a0001c0018 a0001c0022 a0002c0006	a0001c0018t0002 a0001c0022t0004 a0002c0006t0002 a0001c0018t0002 a0001c0022t0004 a0002c0006t0002	a0001c0018t0002g0013 a0001c0022t0004g0003 a0002c0006t0002g0025 a0001c0018t0002g0013 a0001c0022t0004g0003 a0002c0006t0002g0025	3	25	0.1200	101	c.47 others(112): Show c.4787_*4788insTTATATATATGGAATATATATTTATATATATGGA ATATATATTTATATATATGGAATATATATTTATATATATGGAATATATAT TTATATATATGGAATAT	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding		3024		chr2	TogoVar
LRRN4_chr20_6035546_6059060	6049842	G G	GCATTATA others(94): Show GCATTATAATTAGCACCAACAGCCTTCATCATCACCATCACCATCACTGA CATCAATCAGCATCAACACCATCACCATCACTGTCATCACCATCAGCATC TC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04204.hp1 HG04115.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0121 a0001c0001t0001g0122	2	400	0.0050	101	c.860 others(116): Show c.860+836_860+936dupGAGATGCTGATGGTGATGACAGTGATGGTG ATGGTGTTGATGCTGATTGATGTCAGTGATGGTGATGGTGATGATGAAGG CTGTTGGTGCTAATTATAATG	LRRN4	ENSG00000125872.9	transcript	ENST00000378858.5	protein_coding	3/4			chr20	TogoVar
LYPD8_chr1_248734415_248760759	248753270	C C	CACACCAC others(94): Show CACACCACAAACAACACACACACCACAACACACACACCCCACACACAAAC ACCCCACACACCACACACACCACATCACACACACACATCACACCCCACAC AT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	369	0.0027	101	c.-50 others(118): Show c.-50+1968_-50+1969insATGTGTGGGGTGTGATGTGTGTGTGTGA TGTGGTGTGTGTGGTGTGTGGGGTGTTTGTGTGTGGGGTGTGTGTGTTGT GGTGTGTGTGTTGTTTGTGGTGT	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	2/6			chr1	TogoVar
MAEA_chr4_1284891_1345137	1330323	T T	TCTCTCTC others(94): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCT CGTCTCTCTCTCGTCTCTCTCTCGTCTCTCTCTCGTCTCTCTCTCGTCTC TC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	333	0.0030	101	c.657 others(118): Show c.657-2432_657-2431insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCCTCTCTCGTCTCTCTCTCGTCTCTCTCTCGTCTCTCT CTCGTCTCTCTCTCGTCTCTCCT	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MALRD1_chr10_19043801_19739478	19315547	A A	AATATAAA others(94): Show AATATAAATATAATTTATATAAATATATAAATATTTATATATAAATATTT ATATATATTTATATATAAATATTTATATATATTTATATAAATATATAAAT AT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0082 a0082	a0082c0031 a0082c0031	a0082c0031t0001 a0082c0031t0001	a0082c0031t0001g0136 a0082c0031t0001g0136	1	140	0.0071	101	c.342 others(120): Show c.3420-8392_3420-8391insAATTTATATAAATATATAAATATTTA TATATAAATATTTATATATATTTATATATAAATATTTATATATATTTATA TAAATATATAAATATATATAAATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAN1A2_chr1_117362449_117533872	117429525	C C	CGGGGGGG others(94): Show CGGGGGGGCCGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGG CA	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18963.hp1 HG03831.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0067 a0001c0001t0035 a0001c0001t0067	a0001c0001t0035g0066 a0001c0001t0067g0085 a0001c0001t0035g0066 a0001c0001t0067g0085	2	226	0.0088	101	c.855 others(118): Show c.855+8882_855+8883insGCCGACCCCCCCACCTCCCTCCTGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCAGACG GGGCGGCTGGCCGGGCAGGGGGG	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(94): Show CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACC CCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGGGGGGCCGA CA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02698.hp2 HG01978.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0077 a0001c0001t0002 a0001c0001t0077	a0001c0001t0002g0237 a0001c0001t0077g0241 a0001c0001t0002g0237 a0001c0001t0077g0241	2	124	0.0161	101	c.855 others(118): Show c.855+8932_855+8933insCGACCCCCCCCCACCTCCCTCCCAGACG GGGCGGCTGGCCGGGCAGGGGGGCCGACACCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGC	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(94): Show CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGAC CCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGGGGGGCCGA CA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0263 a0001c0001t0002g0263	1	123	0.0081	101	c.855 others(118): Show c.855+8931_855+8932insGCCGACCCCCCCCACCTCCCTCCCAGAC GGGGCGGCTGGCCGGGCAGGGGGGCCGACACCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGG	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(94): Show CCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACC CCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGGGGGGCCGA CA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0071 a0001c0001t0007g0071	1	123	0.0081	101	c.855 others(118): Show c.855+8903_855+8904insTGGACGGGGCGGCTGGCCGGGCGGGGGG CCGACCCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGGGG GGCCGACACCCCCACCTCCCTCC	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(94): Show CCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGAC CCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGGGGGGCCGA CA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG04204.hp1 NA19006.hp1 HG03239.hp1 HG04204.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0034 a0001c0001t0070 a0001c0001t0008 a0001c0001t0034 a0001c0001t0070	a0001c0001t0008g0100 a0001c0001t0034g0078 a0001c0001t0070g0099 a0001c0001t0008g0100 a0001c0001t0034g0078 a0001c0001t0070g0099	3	125	0.0240	101	c.855 others(118): Show c.855+8903_855+8904insTGGACGGGGCGGCTGGCCGGGCGGGGGG GCCGACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGGGG GGCCGACACCCCCACCTCCCTCC	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117429537	C C	CCCCCCCA others(94): Show CCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC CCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGGGGGGCCGA CA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0089 a0001c0001t0033g0089	1	123	0.0081	101	c.855 others(118): Show c.855+8893_855+8894insCACCTCCCTCCTGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGC CGGGCAGGGGGGCCGACACCCCC	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117429584	A A	ACCCCCCC others(94): Show ACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGGGGGGCC GACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG AC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0257	1	361	0.0028	101	c.855 others(118): Show c.855+8942_855+8943insCACCTCCCTCCCAGACGGGGCGGCTGGC CGGGCAGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCC	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN2B2_chr4_6570189_6628362	6579243	C C	CCACCACC others(94): Show CCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACC ACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCAC CA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18955.hp1 NA18959.hp2 others(1): Show NA18944.hp1 NA18955.hp1 NA18959.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0022 a0001c0001t0001g0223 a0001c0001t0001g0224	4	255	0.0157	101	c.391 others(116): Show c.391+746_391+747insACCACCACCACCACCACCATCACCACCACC ACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATCAC CACCACCACCACCACCACCAC	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19477988	A A	AGGGGGGA others(94): Show AGGGGGGAGAGGGGGAGGGGGAGGGGGGGAGGGGGGAGGGGGAGAGGGGG GAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGAGG GG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	125	0.0080	101	c.525 others(118): Show c.525+8493_525+8494insCCCCTCCCCCTCTCCCCCCTCCCCCCTC TCCCCCCTCCCCCCTCTCCCCCTCCCCCCTCTCCCCCTCCCCCCTCCCCC CCTCCCCCTCCCCCTCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP4K1_chr19_38582641_38622953	38584585	T T	TATCCTGG others(94): Show TATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCC CTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCC CC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	346	0.0029	101	c.30 others(112): Show c.3062_*3162dupGGGGGGCACAGGCAGAGGGGTCAGGGCCAGGATA AGGGGGGCACAGGCAGAGGGGTCAGGGCTGGGATGGGGGGCACTGGCAGG GGAATCAGGGCCAGGAT	MAP4K1	ENSG00000104814.13	transcript	ENST00000396857.7	protein_coding		3055		chr19	TogoVar
MAP4K4_chr2_101692707_101899690	101759670	C C	CCCCCTCC others(94): Show CCCCCTCCCCATTCCCCTCCCACTCCGCTCCCCATTCCCTCCACCTCCCC TCCCCTCCCCATTCCCCTCCACCTCCCCTCCCCATTCCCCTCCCCCTCCT TT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	31	0.0323	101	c.124 others(120): Show c.124-31030_124-31029insACTCCGCTCCCCATTCCCTCCACCTC CCCTCCCCTCCCCATTCCCCTCCACCTCCCCTCCCCATTCCCCTCCCCCT CCTTTCCCCTCCCCATTCCCCTCCC	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP4K4_chr2_101692707_101899690	101759676	C C	CCCCATTC others(94): Show CCCCATTCCCCTCCCACTCCGCTCCCCATTCCCCTCCACCTCCCCTCCCC TCCCCATTCCCCTCCACCTCCCCTCCCCATTCCCCTCCCCCTCCTTTCCC CT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	308	0.0032	101	c.124 others(120): Show c.124-31030_124-31029insACTCCGCTCCCCATTCCCCTCCACCT CCCCTCCCCTCCCCATTCCCCTCCACCTCCCCTCCCCATTCCCCTCCCCC TCCTTTCCCCTCCCATTCCCCTCCC	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
MARCHF1_chr4_163519718_164389019	163894910	T T	TATACATG others(94): Show TATACATGCATGTGATGCATATATACATGCATGTGATGCATATATACATG CATGTGATGCATATATACATGCATGTGATGCATATATACATGCATGTGAT GC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0065 a0001c0002t0002g0065	1	75	0.0133	101	c.-38 others(120): Show c.-38-40742_-38-40741insGCATCACATGCATGTATATATGCATC ACATGCATGTATATATGCATCACATGCATGTATATATGCATCACATGCAT GTATATATGCATCACATGCATGTAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MARS1_chr12_57483068_57521652	57493609	A A	AATATAAT others(94): Show AATATAATATATAATATATGTTATAATATATAATATATGTTATAATATAT AATATATATTATATATATATTATATATTATAATATATATTATAATATATA TT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0167 a0001c0004t0001g0167	1	266	0.0038	101	c.770 others(118): Show c.770+2970_770+2971insATATATAATATATGTTATAATATATAAT ATATGTTATAATATATAATATATATTATATATATATTATATATTATAATA TATATTATAATATATATTATATA	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MCUB_chr4_109555246_109693719	109597463	A A	ACCCCCCC others(94): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGGGGGGGGGCTG AC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0114 a0002c0002t0002g0114	1	333	0.0030	101	c.99+ others(118): Show c.99+37034_99+37035insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGGGGGGGGGCTGACCCCCCCC	MCUB	ENSG00000005059.16	transcript	ENST00000394650.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
METRNL_chr17_83074609_83100122	83090264	A A	ACACACCC others(94): Show ACACACCCCCGCCCCGCCCCAGGGTGGGAACCACACACCCCCGCCCTGCC CCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGCCCCAGGGTGGGA AC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00733.hp1 HG01099.hp1 others(6): Show HG00609.hp1 HG00733.hp1 HG01099.hp1 HG01515.hp1 HG01934.hp1 NA18986.hp1 NA19012.hp2 NA19081.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0015	a0001c0002t0001g0009 a0001c0002t0001g0178 a0001c0002t0001g0179 others(5): Show a0001c0002t0001g0009 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0002g0255 a0001c0002t0003g0252 a0001c0002t0003g0339 a0001c0002t0003g0359 a0001c0002t0015g0171	9	384	0.0234	101	c.557 others(118): Show c.557-2898_557-2897insCCCCGCCCCGCCCCAGGGTGGGAACCAC ACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCC CCGCCCCAGGGTGGGAACCACAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METRNL_chr17_83074609_83100122	83090264	A A	ACACCCCC others(94): Show ACACCCCCCCGCCCCGCCCCAGGGTGGGAACCACACACCCCCGCCCTGCC CCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGCCCCAGGGTGGGA AC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03098.hp2 HG03225.hp2 HG02717.hp2 HG03098.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0156 a0001c0001t0002g0223 a0001c0002t0001g0238 a0001c0001t0001g0156 a0001c0001t0002g0223 a0001c0002t0001g0238	3	378	0.0079	101	c.557 others(118): Show c.557-2900_557-2899insCCCCCCGCCCCGCCCCAGGGTGGGAACC ACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACACCCCCCACC CCCCGCCCCAGGGTGGGAACCAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METRNL_chr17_83074609_83100122	83090494	C C	CCACACAC others(94): Show CCACACACACACACCCCCCGCCCCACACACACACACCCCCGCCCCACACA CACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACACCCCCC CA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA19063.hp1 NA18993.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0079 a0001c0001t0002g0004 a0001c0001t0002g0079	2	352	0.0057	101	c.557 others(118): Show c.557-2656_557-2655insCGCCCCACACACACACACCCCCGCCCCA CACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACACC CCCCCACACACACACACACCCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MFSD12_chr19_3539199_3562586	3556885	A A	AGAGGGGT others(94): Show AGAGGGGTGAAAACTCAGCTCATAGGGCAGACAGATACATAGGGGAGGTT AAGGCCATGGACAGACAGTGCAGGGAAGCTCGGGCCACGGGACAGACAGA CC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	243	0.0041	101	c.298 others(116): Show c.298+220_298+221insGGTCTGTCTGTCCCGTGGCCCGAGCTTCCC TGCACTGTCTGTCCATGGCCTTAACCTCCCCTATGTATCTGTCTGCCCTA TGAGCTGAGTTTTCACCCCTC	MFSD12	ENSG00000161091.15	transcript	ENST00000355415.7	protein_coding	1/9			chr19	TogoVar
MFSD12_chr19_3539199_3562586	3556885	A A	AGAGGGGT others(94): Show AGAGGGGTGAAAACTCAGCTCATAGGGCAGACAGATACATAGGGGAGGTT AAGGCCGTGGACAGACAGTGCAGGGAAGCTCGGGCCACGGGACAGACAGA CC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(178): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01515.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02148.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG03017.hp1 HG03017.hp2 HG03453.hp2 HG03490.hp2 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18990.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0008 a0010 a0012 a0014	a0001c0001 a0001c0003 a0001c0016 others(10): Show a0001c0001 a0001c0003 a0001c0016 a0001c0024 a0002c0002 a0002c0010 a0003c0007 a0004c0004 a0004c0026 a0008c0018 a0010c0034 a0012c0021 a0014c0030	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(15): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0003t0001 a0001c0016t0001 a0001c0024t0001 a0002c0002t0001 a0002c0002t0005 a0002c0010t0001 a0003c0007t0001 a0004c0004t0003 a0004c0004t0018 a0004c0026t0003 a0008c0018t0001 a0010c0034t0001 a0012c0021t0001 a0014c0030t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 others(116): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0007g0146 a0001c0001t0007g0161 a0001c0001t0009g0125 a0001c0001t0013g0116 a0001c0003t0001g0085 a0001c0003t0001g0120 a0001c0003t0001g0170 a0001c0003t0001g0172 a0001c0016t0001g0030 a0001c0024t0001g0157 a0002c0002t0001g0001 a0002c0002t0001g0007 a0002c0002t0001g0011 a0002c0002t0001g0024 a0002c0002t0001g0093 a0002c0002t0001g0095 a0002c0002t0001g0098 a0002c0002t0001g0106 a0002c0002t0001g0109 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0119 a0002c0002t0001g0130 a0002c0002t0001g0133 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0156 a0002c0002t0001g0162 a0002c0002t0005g0017 a0002c0002t0005g0044 a0002c0010t0001g0023 a0002c0010t0001g0087 a0002c0010t0001g0102 a0003c0007t0001g0169 a0004c0004t0003g0029 a0004c0004t0003g0174 a0004c0004t0003g0176 a0004c0004t0018g0175 a0004c0026t0003g0113 a0008c0018t0001g0171 a0010c0034t0001g0323 a0012c0021t0001g0173 a0014c0030t0001g0132	181	423	0.4279	101	c.298 others(116): Show c.298+120_298+220dupGGTCTGTCTGTCCCGTGGCCCGAGCTTCCC TGCACTGTCTGTCCACGGCCTTAACCTCCCCTATGTATCTGTCTGCCCTA TGAGCTGAGTTTTCACCCCTC	MFSD12	ENSG00000161091.15	transcript	ENST00000355415.7	protein_coding	1/9			chr19	TogoVar
MGAM_chr7_141990879_142111747	142067986	A A	ATATATAT others(94): Show ATATATATATATATAAATATATATATATATATATATAAATATATATATAT ATATATATATATATATATAAATATATATATATATATATATATATATTTTT TT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0085 a0003c0005t0001g0085	1	154	0.0065	101	c.500 others(118): Show c.5004+562_5004+563insATATATATATATAAATATATATATATAT ATATATAAATATATATATATATATATATATATATATATAAATATATATAT ATATATATATATATATTTTTTTT	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	42/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGA_chr15_41655405_41774940	41656344	T T	TTCTCTCT others(94): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTC TCCTCTCTCTCTCTCTCTCTCTCCCCTCTCTCTCTCTCTCTCTCTCTCTC TC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0263 a0002c0002t0001g0263	1	48	0.0208	101	c.-42 others(112): Show c.-4249_-4248insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCT CTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCCCCTCTCTCTCT CTCTCTCTCTCTCTCTC	MGA	ENSG00000174197.19	transcript	ENST00000703841.1	protein_coding		4060		chr15	TogoVar
MICAL2_chr11_12105590_12268785	12185126	T T	TGGATGGA others(94): Show TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGGGGGATGGGGG GATGGATGGGTGGGGGGATGGGTGGGGTGGGGGGATGGATGGGTGGGTGG GA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0004 a0004	a0004c0055 a0004c0055	a0004c0055t0001 a0004c0055t0001	a0004c0055t0001g0068 a0004c0055t0001g0068	1	2	0.5000	101	c.265 others(120): Show c.265-19122_265-19121insATGGATGGATGGATGGATGGATGGAT GGATGGATGGGGGGATGGGGGGATGGATGGGTGGGGGGATGGGTGGGGTG GGGGGATGGATGGGTGGGTGGGAGG	MICAL2	ENSG00000133816.19	transcript	ENST00000683283.1	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
MICAL2_chr11_12105590_12268785	12185126	T T	TGGATGGA others(94): Show TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGGGGGATGGGGG GGATGGATGGGTGGGGGGATGGGTGGGTGGGGGGATGGATGGGTGGGTGG GA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp2 others(68): Show HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01433.hp2 HG01496.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp2 HG01978.hp2 HG02056.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02602.hp2 HG02622.hp2 HG02698.hp1 HG02735.hp1 HG02818.hp1 HG03130.hp2 HG03492.hp2 HG03579.hp2 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp2 NA18612.hp1 NA18940.hp1 NA18941.hp1 NA18946.hp1 NA18952.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18973.hp2 NA18979.hp2 NA18982.hp1 NA18990.hp2 NA18993.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19009.hp1 NA19043.hp2 NA19057.hp1 NA19062.hp1 NA19064.hp1 NA19090.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0001 a0005 a0008 others(7): Show a0001 a0005 a0008 a0010 a0011 a0012 a0017 a0018 a0020 a0021	a0001c0001 a0001c0002 a0001c0003 others(22): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0019 a0001c0026 a0001c0038 a0001c0062 a0001c0066 a0005c0016 a0008c0048 a0010c0042 a0011c0068 a0012c0061 a0017c0047 a0018c0060 a0020c0035 a0021c0034	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(26): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0007t0001 a0001c0008t0001 a0001c0011t0001 a0001c0012t0001 a0001c0013t0001 a0001c0013t0004 a0001c0014t0001 a0001c0019t0001 a0001c0026t0001 a0001c0038t0001 a0001c0062t0001 a0001c0066t0001 a0005c0016t0001 a0008c0048t0001 a0010c0042t0001 a0011c0068t0002 a0012c0061t0001 a0017c0047t0003 a0018c0060t0001 a0020c0035t0001 a0021c0034t0001	a0001c0001t0001g0037 a0001c0001t0001g0105 a0001c0001t0001g0117 others(67): Show a0001c0001t0001g0037 a0001c0001t0001g0105 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0167 a0001c0001t0001g0188 a0001c0001t0001g0262 a0001c0001t0001g0273 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0003g0058 a0001c0002t0001g0035 a0001c0002t0001g0048 a0001c0002t0001g0057 a0001c0002t0001g0060 a0001c0002t0001g0072 a0001c0002t0001g0081 a0001c0002t0001g0088 a0001c0002t0001g0146 a0001c0002t0001g0186 a0001c0002t0003g0063 a0001c0003t0001g0017 a0001c0003t0001g0028 a0001c0003t0001g0093 a0001c0003t0001g0140 a0001c0003t0001g0229 a0001c0003t0001g0240 a0001c0003t0001g0248 a0001c0003t0001g0252 a0001c0003t0001g0306 a0001c0003t0001g0350 a0001c0004t0001g0018 a0001c0004t0001g0079 a0001c0004t0001g0230 a0001c0004t0003g0115 a0001c0005t0001g0031 a0001c0005t0001g0111 a0001c0005t0001g0265 a0001c0007t0001g0144 a0001c0007t0001g0244 a0001c0007t0001g0251 a0001c0007t0001g0257 a0001c0007t0001g0267 a0001c0007t0001g0326 a0001c0008t0001g0129 a0001c0008t0001g0152 a0001c0011t0001g0275 a0001c0011t0001g0334 a0001c0012t0001g0019 a0001c0012t0001g0074 a0001c0012t0001g0280 a0001c0013t0001g0047 a0001c0013t0004g0039 a0001c0014t0001g0001 a0001c0014t0001g0045 a0001c0014t0001g0150 a0001c0019t0001g0107 a0001c0026t0001g0143 a0001c0038t0001g0109 a0001c0062t0001g0333 a0001c0066t0001g0202 a0005c0016t0001g0113 a0008c0048t0001g0096 a0010c0042t0001g0066 a0011c0068t0002g0212 a0012c0061t0001g0177 a0017c0047t0003g0119 a0018c0060t0001g0241 a0020c0035t0001g0169 a0021c0034t0001g0254	71	72	0.9861	101	c.265 others(120): Show c.265-19122_265-19121insATGGATGGATGGATGGATGGATGGAT GGATGGATGGGGGGATGGGGGGGATGGATGGGTGGGGGGATGGGTGGGTG GGGGGATGGATGGGTGGGTGGGAGG	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(94): Show TGGGTGGATGGATGGATGGATGGATGGATGGATGGATGGGGGGATGGGGG GGATGGATGGGTGGGGGGATGGGTGGGTGGGGGGATGGATGGGTGGGTGG GA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	2	0.5000	101	c.265 others(120): Show c.265-19118_265-19117insATGGATGGATGGATGGATGGATGGAT GGATGGGGGGATGGGGGGGATGGATGGGTGGGGGGATGGGTGGGTGGGGG GATGGATGGGTGGGTGGGAGGGTGG	MICAL2	ENSG00000133816.19	transcript	ENST00000683283.1	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
MIER2_chr19_300573_349796	310557	G G	GGCCCGGA others(94): Show GGCCCGGAGCTATAGAAACACGGCCCGGAGCTGCAGAAACAGGCCGGGAG CTGTAGAAACATGGCCCGGAGCTATAGAAACGGCCCAGAGTCCAGAAACA CA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03209.hp2 HG03139.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	2	132	0.0152	101	c.984 others(118): Show c.984+1287_984+1288insTGTGTTTCTGGACTCTGGGCCGTTTCTA TAGCTCCGGGCCATGTTTCTACAGCTCCCGGCCTGTTTCTGCAGCTCCGG GCCGTGTTTCTATAGCTCCGGGC	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	10/13			chr19	TogoVar
MKKS_chr20_10396009_10439222	10398876	T T	TCTTGGCA others(94): Show TCTTGGCAGTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02976.hp1 HG02922.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0174 a0001c0001t0001g0090 a0001c0001t0001g0174	2	388	0.0052	101	c.63 others(112): Show c.6370_*6371insGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAACTGCCAAG	MKKS	ENSG00000125863.20	transcript	ENST00000347364.7	protein_coding		2132		chr20	TogoVar
MLC1_chr22_50054391_50090426	50063772	T T	TGGCTGGG others(94): Show TGGCTGGGCTCCCCCGTGGGCCACTCACCTCCCCAGCGCCCCCACCGCAG GCCACTCACCTCCCCAGCGACCACCCCCACCCCACAGGCCACTCACCTCC CC	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA19043.hp1 HG03471.hp2 NA19043.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0020 a0004c0004t0021 a0001c0001t0020 a0004c0004t0021	a0001c0001t0020g0189 a0004c0004t0021g0163 a0001c0001t0020g0189 a0004c0004t0021g0163	2	210	0.0095	101	c.105 others(118): Show c.1059+261_1059+262insGGGGAGGTGAGTGGCCTGTGGGGTGGGG GTGGTCGCTGGGGAGGTGAGTGGCCTGCGGTGGGGGCGCTGGGGAGGTGA GTGGCCCACGGGGGAGCCCAGCC	MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding	11/11			chr22	TogoVar
MPI_chr15_74885042_74907219	74894107	T T	TGTGTGTG others(94): Show TGTGTGTGTTTTCTGAGCCAGGGTCTCTTTCTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCTGAGCC AG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0003 a0001c0002t0004g0003	1	206	0.0049	101	c.670 others(116): Show c.670+788_670+789insTGTGTGTTTTCTGAGCCAGGGTCTCTTTCT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTTTTCTGAGCCAGG	MPI	ENSG00000178802.18	transcript	ENST00000352410.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
MROH1_chr8_144143016_144266926	144202945	A A	AGAGGGGC others(94): Show AGAGGGGCGGGGAGGGGACCACCCGCTGTCTGTGGAGGGGCGGGGGGGGG GGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGAGCGCCCGCTCTCTG TG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01192.hp1 HG00280.hp2 HG01192.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0001 a0005c0010t0001 a0001c0001t0001 a0005c0010t0001	a0001c0001t0001g0136 a0005c0010t0001g0130 a0001c0001t0001g0136 a0005c0010t0001g0130	2	126	0.0159	101	c.114 others(120): Show c.1141+2421_1141+2422insCCACCCGCTGTCTGTGGAGGGGCGGG GGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGAGCGCCCGC TCTCTGTGGAGGGGCGGGGAGGGGA	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144203024	G G	GGGGGAGC others(94): Show GGGGGAGCGCCCGCTCTCTGTGGAGGGGCGGGGAGGGGAGCGCCCGCTGT CTGTGGAGGGGCGGGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGG GA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0091 a0003c0003t0001g0091	1	66	0.0152	101	c.114 others(120): Show c.1141+2497_1141+2498insCTCTGTGGAGGGGCGGGGAGGGGAGC GCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGGAGCGCCCGCTGTCTGTGG AGGGGCGGGGAGGGGAGCGCCCGCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH2A_chr2_233773330_233838418	233787596	T T	TATATATT others(94): Show TATATATTATATATATCATATATACATATATTATATATATTATATATACA TATATATTATATATACATATATATTATATATATCATATATACATATATAT TA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0022 a0022	a0022c0104 a0022c0104	a0022c0104t0001 a0022c0104t0001	a0022c0104t0001g0037 a0022c0104t0001g0037	1	108	0.0093	101	c.277 others(118): Show c.277-1901_277-1900insATATATTATATATATCATATATACATAT ATTATATATATTATATATACATATATATTATATATACATATATATTATAT ATATCATATATACATATATATTA	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41			chr2	TogoVar
MRTFA_chr22_40405289_40641719	40498277	T T	TATATATA others(94): Show TATATATATATATTTATATATATATATTTATATATATATATATAAATATA TATATATTTATATATATATACTTATATATATATATATTTATATATATATA TA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18984.hp1 NA19000.hp2 others(1): Show NA18949.hp2 NA18984.hp1 NA19000.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0026 a0001c0001t0002g0033 others(1): Show a0001c0001t0002g0001 a0001c0001t0002g0026 a0001c0001t0002g0033 a0001c0001t0002g0060	4	238	0.0168	101	c.242 others(120): Show c.242-34992_242-34991insTATATATATATATAAATATATATATA TATAAGTATATATATATAAATATATATATATTTATATATATATATATAAA TATATATATATAAATATATATATAT	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40501469	A A	ACCTCCCG others(94): Show ACCTCCCGGACAGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACC TC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20300.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0077 a0001c0003t0001g0076 a0001c0002t0001g0077 a0001c0003t0001g0076	2	137	0.0146	101	c.242 others(120): Show c.242-38184_242-38183insGAGGTGGGGGGGTCGGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGC CCGGCCAGCCGCCCTGTCCGGGAGG	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537238	T T	TGGGGGGG others(94): Show TGGGGGGGGTCAGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	248	0.0040	101	c.241 others(120): Show c.241+14867_241+14868insCACCTCCCTCCCGGACGGGGCGGCTG GCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGG CCGGGTGGGGGGGCTGACCCCCCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar

Search by Variant

Search

Search Results