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
LOC114841035_chr11_64236095_64249132	64237126	G G	GAGAGAGA others(44): Show GAGAGAGAGAGAGAGAGAGACAGAGACAGACAGAGACAGACAGAGACAGA CA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	229	0.0044	51	c.-41 others(62): Show c.-4154_-4153insAGAGAGAGAGAGAGAGAGACAGAGACAGACAGAG ACAGACAGAGACAGACA	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		3968		chr11	TogoVar
LOC114841035_chr11_64236095_64249132	64237126	G G	GAGAGAGA others(44): Show GAGAGAGAGAGAGAGAGAGAGAGACAGAGACAGAGACAGACAGAGACAGA CA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	229	0.0044	51	c.-41 others(62): Show c.-4154_-4153insAGAGAGAGAGAGAGAGAGAGAGACAGAGACAGAG ACAGACAGAGACAGACA	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		3968		chr11	TogoVar
LOC114841035_chr11_64236095_64249132	64237126	G G	GAGAGAGA others(44): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGACAGACAGAGACAGA CA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 NA19005.hp2 NA19007.hp2 others(2): Show HG02559.hp1 NA19005.hp2 NA19007.hp2 NA19077.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0001 a0001c0001t0008g0001 a0001c0001t0002g0001 a0001c0001t0008g0001	5	233	0.0215	51	c.-41 others(62): Show c.-4154_-4153insAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGAG ACAGACAGAGACAGACA	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		3968		chr11	TogoVar
LOC128125816_chr12_122221430_122231564	122226363	A A	AGGGAGGC others(44): Show AGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGG GC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG03579.hp2 NA19007.hp1 others(1): Show HG00621.hp2 HG03579.hp2 NA19007.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	309	0.0129	51	c.16 others(58): Show c.16_*66dupGCCCGGCCCCGCCTCCCGCCCGGCCCCGCCTCCCGCCC GGCCCCGCCTCCC	LOC128125816	ENSG00000284934.3	transcript	ENST00000713558.1	protein_coding		66		chr12	TogoVar
LOC128462377_chr16_89312046_89423292	89328624	G G	GGACACAC others(44): Show GGACACACCCAGGAGCACGGGCGAAATCAGCGGAGGCCCCTGCTGAGTGA GT	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	366	0.0027	51	c.10- others(68): Show c.10-11600_10-11550dupACTCACTCAGCAGGGGCCTCCGCTGATT TCGCCCGTGCTCCTGGGTGTGTC	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89328861	T T	TGGAGGCC others(44): Show TGGAGGCCCCTGCTGAGTGAGTGGACACACCCAGGCGCACGGGCGAATCA GC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	363	0.0028	51	c.10- others(68): Show c.10-11787_10-11786insGCTGATTCGCCCGTGCGCCTGGGTGTGT CCACTCACTCAGCAGGGGCCTCC	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LRBA_chr4_150259435_151020284	150658505	G G	GTCTCCTC others(44): Show GTCTCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02109.hp1 HG02572.hp2 others(1): Show HG00597.hp2 HG02109.hp1 HG02572.hp2 NA18950.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0009 a0001c0001 a0009c0009	a0001c0001t0001 a0001c0001t0002 a0009c0009t0001 a0001c0001t0001 a0001c0001t0002 a0009c0009t0001	a0001c0001t0001g0036 a0001c0001t0002g0034 a0001c0001t0002g0153 others(1): Show a0001c0001t0001g0036 a0001c0001t0002g0034 a0001c0001t0002g0153 a0009c0009t0001g0007	4	76	0.0526	51	c.592 others(72): Show c.5921+25045_5921+25046insGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGGAGA	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56			chr4	TogoVar
LRCOL1_chr12_132598151_132615582	132598383	T T	TCCTCTCC others(44): Show TCCTCTCCGCGCGCCCCTCCTCCTCTCCGCTCGCCCCTCCTCTCCGCTCG CC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 NA18973.hp2 HG02080.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	246	0.0081	51	c.50 others(62): Show c.5018_*5019insGGCGAGCGGAGAGGAGGGGCGAGCGGAGAGGAGG AGGGGCGCGCGGAGAGG	LRCOL1	ENSG00000204583.10	transcript	ENST00000376608.9	protein_coding		4767		chr12	TogoVar
LRCOL1_chr12_132598151_132615582	132598555	G G	GCTCCTCT others(44): Show GCTCCTCTCCGCGCGCCCCTCCTCTCCGCTCGCCCCTCCTCTCCGCTCGC CC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	340	0.0029	51	c.48 others(62): Show c.4846_*4847insGGGCGAGCGGAGAGGAGGGGCGAGCGGAGAGGAG GGGCGCGCGGAGAGGAG	LRCOL1	ENSG00000204583.10	transcript	ENST00000376608.9	protein_coding		4595		chr12	TogoVar
LRFN2_chr6_40386591_40592364	40577103	C C	CTCTTCTC others(44): Show CTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT CT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01169.hp1 HG00280.hp2 HG01169.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0005 a0001c0001t0001 a0002c0005t0005	a0001c0001t0001g0015 a0002c0005t0005g0033 a0001c0001t0001g0015 a0002c0005t0005g0033	2	209	0.0096	51	c.-19 others(68): Show c.-19+9837_-19+9838insAGAAGAGAAGAGAAGAGAAGAGAAGAGA AGAGAAGAGAAGAGAAGAGAAGA	LRFN2	ENSG00000156564.10	transcript	ENST00000338305.7	protein_coding	1/2			chr6	TogoVar
LRFN2_chr6_40386591_40592364	40577108	C C	CTCTTCTC others(44): Show CTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCCT CT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01192.hp1 HG02818.hp2 others(13): Show HG01175.hp1 HG01192.hp1 HG02818.hp2 HG02896.hp1 HG02965.hp1 HG03490.hp1 HG03710.hp2 NA18906.hp1 NA18979.hp2 NA18982.hp2 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19054.hp2 NA19079.hp1 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0008 a0001c0006t0001 a0002c0005t0001	a0001c0001t0001g0064 a0001c0001t0001g0078 a0001c0001t0001g0088 others(13): Show a0001c0001t0001g0064 a0001c0001t0001g0078 a0001c0001t0001g0088 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0185 a0001c0002t0001g0066 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0102 a0001c0003t0002g0101 a0001c0004t0001g0040 a0001c0004t0008g0002 a0001c0006t0001g0065 a0002c0005t0001g0100 a0002c0005t0001g0219	16	133	0.1203	51	c.-19 others(68): Show c.-19+9832_-19+9833insAGAGGAGAAGAGAAGAGAAGAGAAGAGA AGAGAAGAGAAGAGAAGAGAAGA	LRFN2	ENSG00000156564.10	transcript	ENST00000338305.7	protein_coding	1/2			chr6	TogoVar
LRFN2_chr6_40386591_40592364	40583202	A A	ATATATAC others(44): Show ATATATACACTATATACATATATAGTATATATACACATATATACATATAT AG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0001 a0001c0002t0007g0001	1	198	0.0051	51	c.-19 others(68): Show c.-19+3738_-19+3739insCTATATATGTATATATGTGTATATATAC TATATATGTATATAGTGTATATA	LRFN2	ENSG00000156564.10	transcript	ENST00000338305.7	protein_coding	1/2			chr6	TogoVar
LRIF1_chr1_110942190_110968922	110957470	C C	CAAAAAAA others(44): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0183 a0001c0001t0004g0183	1	142	0.0070	51	c.69- others(66): Show c.69-4656_69-4655insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTT	LRIF1	ENSG00000121931.16	transcript	ENST00000369763.5	protein_coding	1/3			chr1	TogoVar
LRIG2_chr1_113068198_113137260	113070235	T T	TGCCCGGC others(44): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCC CC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0111 a0001c0001t0006g0111	1	182	0.0055	51	c.-31 others(62): Show c.-3172_-3171insGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGTCGGCCCCCCC	LRIG2	ENSG00000198799.12	transcript	ENST00000361127.6	protein_coding		2962		chr1	TogoVar
LRIG2_chr1_113068198_113137260	113070267	T T	TGGGGGGG others(44): Show TGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	263	0.0038	51	c.-31 others(62): Show c.-3140_-3139insGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTG	LRIG2	ENSG00000198799.12	transcript	ENST00000361127.6	protein_coding		2930		chr1	TogoVar
LRIT3_chr4_109843107_109877315	109850422	C C	CCTTCTTT others(44): Show CCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19080.hp1 NA19072.hp2 NA19080.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0004 a0002c0001t0003 a0002c0001t0004	a0002c0001t0003g0003 a0002c0001t0004g0007 a0002c0001t0003g0003 a0002c0001t0004g0007	2	18	0.1111	51	c.117 others(68): Show c.117-1079_117-1078insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTT	LRIT3	ENSG00000183423.12	transcript	ENST00000594814.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
LRIT3_chr4_109843107_109877315	109850422	C C	CTTTCTTT others(44): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	17	0.0588	51	c.117 others(68): Show c.117-1082_117-1081insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTT	LRIT3	ENSG00000183423.12	transcript	ENST00000594814.6	protein_coding	1/3			chr4	TogoVar
LRRC71_chr1_156915632_156938094	156928363	C C	CTCTTCTT others(44): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	55	0.0182	51	c.996 others(66): Show c.996+403_996+404insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTC	LRRC71	ENSG00000160838.14	transcript	ENST00000337428.8	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
LRRC74A_chr14_76821408_76875304	76821921	T T	TGGGGGGG others(44): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG02056.hp1 HG03831.hp1 others(1): Show HG00408.hp2 HG02056.hp1 HG03831.hp1 NA19060.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0001c0008 others(1): Show a0001c0001 a0001c0004 a0001c0008 a0005c0009	a0001c0001t0002 a0001c0004t0001 a0001c0008t0001 others(1): Show a0001c0001t0002 a0001c0004t0001 a0001c0008t0001 a0005c0009t0002	a0001c0001t0002g0277 a0001c0004t0001g0305 a0001c0008t0001g0247 others(1): Show a0001c0001t0002g0277 a0001c0004t0001g0305 a0001c0008t0001g0247 a0005c0009t0002g0311	4	310	0.0129	51	c.-47 others(62): Show c.-4777_-4776insGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGG	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding		4486		chr14	TogoVar
LRTM1_chr3_54913231_54933059	54932061	A A	ATTAATTA others(44): Show ATTAATTAAAAAATTAGATCGGGTAAGAGGTGGAGAGGGCTAAGAATTAG CT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0010 a0003c0015t0010	a0003c0015t0010g0090 a0003c0015t0010g0090	1	346	0.0029	51	c.-41 others(62): Show c.-4151_-4150insAGCTAATTCTTAGCCCTCTCCACCTCTTACCCGA TCTAATTTTTTAATTAA	LRTM1	ENSG00000144771.8	transcript	ENST00000273286.6	protein_coding		4003		chr3	TogoVar
LSM8_chr7_118179164_118209035	118202771	G G	GTGATTCT others(44): Show GTGATTCTTTTTTTCTTGATATAAATGCAAGGAATATGAATTTTAATTAC AT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0111 a0001c0001t0111	a0001c0001t0111g0003 a0001c0001t0111g0003	1	412	0.0024	51	c.10 others(64): Show c.10771_*10772insATTCTTTTTTTCTTGATATAAATGCAAGGAAT ATGAATTTTAATTACATTG	LSM8	ENSG00000128534.8	transcript	ENST00000249299.7	protein_coding	4/4	10772	INFO_REALIGN_3_PRIME	chr7	TogoVar
LSP1_chr11_1848084_1897263	1873969	G G	GGAGGAGG others(44): Show GGAGGAGGGAGGCCGGCGGAGGAGGGAGGCTGGCAGAGCAGGGAGCCCAG CA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0021 a0002c0001t0001g0021	2	192	0.0104	51	c.54- others(66): Show c.54-6074_54-6073insCCCAGCAGAGGAGGGAGGCCGGCGGAGGAG GGAGGCTGGCAGAGCAGGGAG	LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
LSP1_chr11_1848084_1897263	1873969	G G	GGAGGAGG others(44): Show GGAGGAGGGAGGCCGGCGGAGGAGGGAGGCTGGCAGAGCAGGGAGCCCGG CA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00438.hp2 others(65): Show HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00642.hp2 HG00673.hp2 HG01071.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01261.hp1 HG01346.hp2 HG01433.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02080.hp2 HG02129.hp1 HG02155.hp2 HG02273.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG03017.hp2 HG03041.hp2 HG03239.hp1 HG03239.hp2 HG03579.hp1 HG03834.hp1 HG04115.hp2 HG04184.hp1 HG06807.hp1 NA18522.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18964.hp1 NA18966.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA19010.hp1 NA19058.hp2 NA19060.hp1 NA19067.hp1 NA19070.hp1 NA19079.hp1 NA19081.hp1 NA19085.hp2 NA19090.hp2 NA20300.hp2 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0002 a0001c0003 a0002c0001 others(4): Show a0001c0002 a0001c0003 a0002c0001 a0002c0005 a0002c0017 a0003c0006 a0006c0010	a0001c0002t0001 a0001c0003t0001 a0001c0003t0008 others(7): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0008 a0002c0001t0001 a0002c0001t0002 a0002c0005t0001 a0002c0005t0003 a0002c0017t0001 a0003c0006t0001 a0006c0010t0001	a0001c0002t0001g0024 a0001c0002t0001g0092 a0001c0002t0001g0098 others(51): Show a0001c0002t0001g0024 a0001c0002t0001g0092 a0001c0002t0001g0098 a0001c0002t0001g0103 a0001c0002t0001g0107 a0001c0002t0001g0123 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0136 a0001c0002t0001g0146 a0001c0002t0001g0154 a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0016 a0001c0003t0001g0044 a0001c0003t0001g0048 a0001c0003t0001g0050 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0056 a0001c0003t0001g0062 a0001c0003t0001g0067 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0075 a0001c0003t0001g0079 a0001c0003t0001g0293 a0001c0003t0008g0052 a0002c0001t0001g0011 a0002c0001t0001g0017 a0002c0001t0001g0020 a0002c0001t0001g0081 a0002c0001t0001g0082 a0002c0001t0001g0084 a0002c0001t0001g0085 a0002c0001t0001g0086 a0002c0001t0001g0087 a0002c0001t0001g0168 a0002c0001t0001g0214 a0002c0001t0002g0019 a0002c0005t0001g0003 a0002c0005t0001g0156 a0002c0005t0003g0163 a0002c0017t0001g0161 a0003c0006t0001g0003 a0003c0006t0001g0026 a0003c0006t0001g0105 a0003c0006t0001g0157 a0003c0006t0001g0158 a0003c0006t0001g0162 a0003c0006t0001g0164 a0006c0010t0001g0069	68	258	0.2636	51	c.54- others(66): Show c.54-6074_54-6073insCCCGGCAGAGGAGGGAGGCCGGCGGAGGAG GGAGGCTGGCAGAGCAGGGAG	LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
LSP1_chr11_1848084_1897263	1874071	A A	AGAGGAGG others(44): Show AGAGGAGGGAGGCCGGCAGAGGAAGGAGGCCGGCAGAGCAGGGAGGCCGG CG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01981.hp1 HG01167.hp2 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0131 a0001c0002t0001g0138 a0001c0002t0001g0131 a0001c0002t0001g0138	2	242	0.0083	51	c.54- others(66): Show c.54-5996_54-5995insGAAGGAGGCCGGCAGAGCAGGGAGGCCGGC GGAGGAGGGAGGCCGGCAGAG	LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
LYAR_chr4_4262701_4295154	4263865	A A	AGGCTGGA others(44): Show AGGCTGGAGTGCAGTGGTGCGATCTTGGCTCAGCACAACCTCTGGTTGCC CG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00673.hp2 HG00735.hp1 others(28): Show HG00544.hp1 HG00673.hp2 HG00735.hp1 HG01099.hp1 HG01516.hp2 HG01981.hp1 HG02056.hp2 HG02155.hp2 HG02258.hp1 HG02300.hp2 HG02523.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG03041.hp2 HG03130.hp2 HG03491.hp1 HG03516.hp2 HG03579.hp1 HG03704.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 NA18906.hp1 NA18964.hp1 NA18966.hp1 NA18971.hp1 NA19000.hp2 NA19064.hp1 NA19079.hp2 NA19240.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0006t0002 a0002c0002t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0013 others(25): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0040 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0002g0003 a0001c0001t0002g0084 a0001c0001t0002g0106 a0001c0001t0002g0117 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0003g0076 a0001c0001t0004g0127 a0001c0001t0004g0134 a0001c0001t0005g0160 a0001c0001t0006g0090 a0001c0001t0006g0098 a0001c0006t0002g0087 a0002c0002t0001g0004 a0002c0002t0001g0178 a0004c0005t0001g0153	31	432	0.0718	51	c.40 others(62): Show c.4023_*4024insCGGGCAACCAGAGGTTGTGCTGAGCCAAGATCGC ACCACTGCACTCCAGCC	LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding		3835		chr4	TogoVar
LYPLA1_chr8_54041367_54106947	54084133	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	258	0.0039	51	c.101 others(70): Show c.101+16774_101+16775insATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTTTTTTTT	LYPLA1	ENSG00000120992.18	transcript	ENST00000316963.8	protein_coding	2/8			chr8	TogoVar
MAGEB2_chrX_30210563_30225089	30211343	T T	TCACACAC others(44): Show TCACACACTCCCCCACACTCCCTCACCCCACACCTACCTCCCCCCCCCAC CC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	318	0.0031	51	c.-43 others(62): Show c.-4318_-4317insCACACACTCCCCCACACTCCCTCACCCCACACCT ACCTCCCCCCCCCACCC	MAGEB2	ENSG00000099399.6	transcript	ENST00000378988.5	protein_coding		4219		chrX	TogoVar
MAN1A2_chr1_117362449_117533872	117429505	G G	GGACGGGG others(44): Show GGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCCACCTCCCTCC CA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0011 a0001c0009t0011	a0001c0009t0011g0011 a0001c0009t0011g0011	1	355	0.0028	51	c.855 others(68): Show c.855+8882_855+8883insGCCGACCCCCCCCACCTCCCTCCCAGAC GGGGCGGCTGGCCGGGCGGGGGG	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117429535	A A	ACCCCCCC others(44): Show ACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCCG AC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp2 HG01255.hp2 others(6): Show HG00741.hp1 HG01109.hp2 HG01255.hp2 HG01257.hp2 HG03195.hp1 HG03471.hp1 NA20129.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0011 a0001c0001t0069 a0002c0006t0011 a0001c0001t0011 a0001c0001t0069 a0002c0006t0011	a0001c0001t0011g0014 a0001c0001t0011g0016 a0001c0001t0011g0017 others(6): Show a0001c0001t0011g0014 a0001c0001t0011g0016 a0001c0001t0011g0017 a0001c0001t0011g0018 a0001c0001t0011g0019 a0001c0001t0011g0020 a0001c0001t0011g0022 a0001c0001t0069g0023 a0002c0006t0011g0015	9	361	0.0249	51	c.855 others(68): Show c.855+8893_855+8894insCACCTCCCTCCCAGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCC	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(44): Show CCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCCGA CA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02257.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0057 a0001c0001t0007g0068 a0001c0001t0007g0057 a0001c0001t0007g0068	2	124	0.0161	51	c.855 others(68): Show c.855+8893_855+8894insCACCTCCCTCCCAGACGGGGCGGCTGGC CGGGCAGAGGGGCCGACACCCCC	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(44): Show CCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGGGGGGCCGA CA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02818.hp2 HG02922.hp1 others(5): Show HG02486.hp1 HG02818.hp2 HG02922.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0013 a0001c0001t0058 a0001c0001t0060 others(1): Show a0001c0001t0013 a0001c0001t0058 a0001c0001t0060 a0001c0007t0013	a0001c0001t0013g0001 a0001c0001t0013g0028 a0001c0001t0013g0029 others(3): Show a0001c0001t0013g0001 a0001c0001t0013g0028 a0001c0001t0013g0029 a0001c0001t0058g0027 a0001c0001t0060g0030 a0001c0007t0013g0026	8	130	0.0615	51	c.855 others(68): Show c.855+8893_855+8894insCACCTCCCTCCCAGACGGGGCGGCTGGC CGGGCAGGGGGGCCGACACCCCC	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN2B2_chr4_6570189_6628362	6579289	T T	TCACCACC others(44): Show TCACCACCACCACCACCACCATCACCATCACCACCACCACCATCACCACC AC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	266	0.0038	51	c.391 others(66): Show c.391+802_391+803insCCACCACCATCACCATCACCACCACCACCA TCACCACCACCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579542	T T	TGGTTCTC others(44): Show TGGTTCTCTCTGTCTGGCAGCTGGAGGGGCATTGTTAAGTAATGAACTGG GA	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA20129.hp1 HG02572.hp2 NA20129.hp1	a0003 a0020 a0003 a0020	a0003c0070 a0020c0069 a0003c0070 a0020c0069	a0003c0070t0002 a0020c0069t0002 a0003c0070t0002 a0020c0069t0002	a0003c0070t0002g0042 a0020c0069t0002g0041 a0003c0070t0002g0042 a0020c0069t0002g0041	2	360	0.0056	51	c.391 others(68): Show c.391+1045_391+1046insGTTCTCTCTGTCTGGCAGCTGGAGGGGC ATTGTTAAGTAATGAACTGGGAG	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K13_chr3_185358136_185494094	185454996	T T	TGATATAT others(44): Show TGATATATATGAGATATATATGATATATATGAGATATATATGATATATAT GA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0214 a0001c0001t0016g0214	1	272	0.0037	51	c.127 others(70): Show c.1278+3650_1278+3651insGAGATATATATGAGATATATATGATA TATATGAGATATATATGATATATAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185455288	T T	TATATATG others(44): Show TATATATGAGATATATATGAGATATATATGATATATATATGAGATATATA TG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0200 a0001c0001t0060g0200	1	188	0.0053	51	c.127 others(70): Show c.1278+3899_1278+3900insGAGATATATATGAGATATATATGATA TATATATGAGATATATATGATATAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185455319	G G	GAGATATA others(44): Show GAGATATACATGAGATATATATGATATATATGAGATATATATGATATATA TA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0214 a0001c0001t0016g0214	1	276	0.0036	51	c.127 others(70): Show c.1278+3931_1278+3932insCATGAGATATATATGATATATATGAG ATATATATGATATATATAAGATATA	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K15_chrX_19355059_19520508	19478085	A A	AGGGGGGA others(44): Show AGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGGG GG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0015	1	145	0.0069	51	c.525 others(68): Show c.525+8396_525+8397insCCCCCTCTCCCCCCTCCCCCCTCCCCCC TCCCCCCTCTCCCCCCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K2_chr2_127293668_127392975	127326287	T T	TGAAAACA others(44): Show TGAAAACATTTTAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01169.hp1 HG02145.hp1 others(12): Show HG01069.hp1 HG01169.hp1 HG02145.hp1 HG02165.hp2 HG02572.hp1 HG02698.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03139.hp2 HG03486.hp1 NA18945.hp2 NA18985.hp1 NA18987.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0015 a0001c0001t0071 others(1): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0071 a0001c0002t0008	a0001c0001t0001g0202 a0001c0001t0001g0212 a0001c0001t0001g0214 others(12): Show a0001c0001t0001g0202 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0234 a0001c0001t0001g0274 a0001c0001t0001g0288 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0313 a0001c0001t0015g0310 a0001c0001t0071g0200 a0001c0002t0008g0171	15	205	0.0732	51	c.597 others(66): Show c.597+399_597+400insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTAAAATGTTTTC	MAP3K2	ENSG00000169967.17	transcript	ENST00000682094.1	protein_coding	8/16			chr2	TogoVar
MAP3K8_chr10_30429184_30466833	30432976	G G	GAGAGAGA others(44): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01069.hp2 HG01978.hp2 HG00642.hp1 HG01069.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0143 a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0143	3	242	0.0124	51	c.-16 others(62): Show c.-1657_-1656insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGA	MAP3K8	ENSG00000107968.10	transcript	ENST00000263056.6	protein_coding		1207		chr10	TogoVar
MAP3K8_chr10_30429184_30466833	30432978	G G	GAGAGAGA others(44): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 NA18984.hp2 NA19087.hp1 HG01257.hp2 NA18984.hp2 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0035 a0001c0002t0001g0007 a0001c0002t0001g0035	3	134	0.0224	51	c.-16 others(62): Show c.-1655_-1654insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGA	MAP3K8	ENSG00000107968.10	transcript	ENST00000263056.6	protein_coding		1205		chr10	TogoVar
MAPKAP1_chr9_125432394_125712208	125623805	T T	TGGGGGGG others(44): Show TGGGGGGGTCAGCCCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGG TG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	296	0.0034	51	c.498 others(70): Show c.498+33845_498+33846insCACCTCCCTCCCGGACGGCACGGCTG GCCAGGCGGGGGGGCTGACCCCCCC	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	4/11			chr9	TogoVar
MAPKAP1_chr9_125432394_125712208	125623816	G G	GCCCCCCG others(44): Show GCCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGGGGTCA GC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	297	0.0034	51	c.498 others(70): Show c.498+33834_498+33835insGCTGACCCCCCCCACCTCCCTCCCGG ACGGCACGGCTGGCCAGGCGGGGGG	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	4/11			chr9	TogoVar
MAPKAP1_chr9_125432394_125712208	125624547	G G	GTCCGGGA others(44): Show GTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCC CA	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18956.hp1 HG02055.hp2 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0158 a0001c0002t0001g0204 a0001c0001t0001g0158 a0001c0002t0001g0204	2	170	0.0118	51	c.498 others(70): Show c.498+33103_498+33104insTGGGGCGGCTGGCCGGGCGGGGGGGC CGACCCCCCCCACCTCCCTCCCGGA	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	4/11			chr9	TogoVar
MAST2_chr1_45798612_46041122	45883912	G G	GCCTCCCC others(44): Show GCCTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CC	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	2	0.5000	51	c.500 others(68): Show c.500+1519_500+1520insTCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCC	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MBD3L4_chr19_7032749_7045179	7035069	T T	TAATTTAT others(44): Show TAATTTATATGTTATATAATTATATTATATATATAATATAATTTATATGT TA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	249	0.0040	51	c.27 others(62): Show c.2791_*2792insTAACATATAAATTATATTATATATATAATATAAT TATATAACATATAAATT	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		2679		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035069	T T	TAATTTAT others(44): Show TAATTTATATGTTATATAATTATATTATATATATAATATAATTTATATGT TA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	245	0.0041	51	c.21 others(62): Show c.2175_*2176insAATTTATATGTTATATAATTATATTATATATATA ATATAATTTATATGTTA	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		2059		chr19	TogoVar
MBNL2_chr13_97217333_97399120	97378122	A A	ATGAAAAT others(44): Show ATGAAAATAATTGAAATATTACTATATAATATTACTTAATTGAAACATTA CT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02572.hp2 HG02630.hp1 others(8): Show HG02486.hp1 HG02572.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02970.hp2 NA18948.hp2 NA18951.hp2 NA18967.hp2 NA19056.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0017 a0001c0002t0001 a0001c0002t0006 others(1): Show a0001c0001t0017 a0001c0002t0001 a0001c0002t0006 a0003c0004t0001	a0001c0001t0017g0177 a0001c0002t0001g0008 a0001c0002t0001g0156 others(8): Show a0001c0001t0017g0177 a0001c0002t0001g0008 a0001c0002t0001g0156 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0006g0126 a0001c0002t0006g0197 a0001c0002t0006g0212 a0001c0002t0006g0248 a0003c0004t0001g0232	11	252	0.0437	51	c.104 others(72): Show c.1048+12968_1048+13018dupATTACTATATAATATTACTTAATT GAAACATTACTTGAAAATAATTGAAAT	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT TT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	39	0.0256	51	c.-25 others(62): Show c.-2544_-2543insAAAAAAAAAAAAAAAAATATATATATATATATAT ATATATATATATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT TT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	39	0.0256	51	c.-25 others(62): Show c.-2544_-2543insAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MCF2L_chr13_112964214_113104742	112980628	G G	GCCGCCTT others(44): Show GCCGCCTTCCCCTTTCCCCCGCCTTCCCCTTTCCCCCGCCTTCCCCTTTC CC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02300.hp2 HG01069.hp1 HG01071.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0002t0003g0023 a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0002t0003g0023	3	25	0.1200	51	c.79+ others(68): Show c.79+11211_79+11212insCCCCTTTCCCCCGCCTTCCCCTTTCCCC CGCCTTCCCCTTTCCCCCGCCTT	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar

Search by Variant

Search

Search Results