Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
LTBP2_chr14_74493183_74617237	74564139	A A	ATATATAT others(95): Show ATATATATATATTTATATATATATTTATATATATATATTTATATATATAT TTATATATATATATTTATATATATATTTATATATATATATTTATATATAT ATT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	282	0.0036	102	c.831 others(119): Show c.831-8447_831-8446insAATATATATATAAATATATATATATAAA TATATATATAAATATATATATATAAATATATATATAAATATATATATATA AATATATATATAAATATATATATA		LTBP2	ENSG00000119681.12	transcript	ENST00000261978.9	protein_coding	3/35						chr14	TogoVar
LYPD8_chr1_248734415_248760759	248747348	C C	CCAGCACC others(95): Show CCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCAGCACCCACCCAGG GCATCGCCCGCACGGCCAGCAGCACCCACCCAGGGCATCGCCCGCACGGC CAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	374	0.0027	102	c.337 others(117): Show c.337+940_337+941insCTGGCCGTGCGGGCGATGCCCTGGGTGGGT GCTGCTGGCCGTGCGGGCGATGCCCTGGGTGGGTGCTGCTGGCCGTGCGG GCGATGCCCTGGGTGGGTGCTG		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6						chr1	TogoVar
MAEA_chr4_1284891_1345137	1298329	T T	TGCCGTCT others(95): Show TGCCGTCTTCTGGTTATCCACGAAGAGGCACACGCGCCGTCTTCTGGTTA TCCACGAAGAGGCACACGCGCCGTCTTCTGGTTATCCACGAAGAGGCACA CGC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02559.hp1 others(14): Show HG02109.hp1 HG02109.hp2 HG02559.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02970.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03579.hp1 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0007 a0001c0003t0010 a0001c0003t0001 a0001c0003t0007 a0001c0003t0010	a0001c0003t0001g0175 a0001c0003t0001g0176 a0001c0003t0001g0274 others(14): Show a0001c0003t0001g0175 a0001c0003t0001g0176 a0001c0003t0001g0274 a0001c0003t0001g0275 a0001c0003t0001g0276 a0001c0003t0001g0277 a0001c0003t0001g0278 a0001c0003t0001g0280 a0001c0003t0001g0281 a0001c0003t0001g0284 a0001c0003t0001g0285 a0001c0003t0001g0288 a0001c0003t0001g0292 a0001c0003t0007g0279 a0001c0003t0007g0282 a0001c0003t0007g0283 a0001c0003t0010g0174	17	388	0.0438	102	c.69+ others(117): Show c.69+8363_69+8464dupTCCACGAAGAGGCACACGCGCCGTCTTCTG GTTATCCACGAAGAGGCACACGCGCCGTCTTCTGGTTATCCACGAAGAGG CACACGCGCCGTCTTCTGGTTA		MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAGEC1_chrX_141898894_141914374	141906202	T T	TCCACTCC others(95): Show TCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTA TTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCC CAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19240.hp2 NA19240.hp2	a0145 a0145	a0145c0114 a0145c0114	a0145c0114t0001 a0145c0114t0001	a0145c0114t0001g0010 a0145c0114t0001g0010	1	359	0.0028	102	c.798 others(109): Show c.798_799insCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCAC TTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTG AGGGTTTTCCCCAG	p.Ser others(115): Show p.Ser266_Ser267insProLeuGlnIleProValSerArgSerPheSe rSerThrLeuLeuSerIlePheGlnSerSerProGluArgThrGlnSerT hrPheGluGlyPheProGln	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1085/4256	799/3429	267/1142			chrX	TogoVar
MAN1A2_chr1_117362449_117533872	117429525	C C	CGGGGGGG others(95): Show CGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGGCCGACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGG GCA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0227 a0001c0001t0058g0227	1	370	0.0027	102	c.855 others(119): Show c.855+8882_855+8883insGCCGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCCACCTCCCTCCCAGAC GGGGCGGCTGGCCGGGCAGGGGGG		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(95): Show CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGAC CCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGGGGGGCCG ACA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0144 a0001c0001t0144	a0001c0001t0144g0222 a0001c0001t0144g0222	1	370	0.0027	102	c.855 others(119): Show c.855+8931_855+8932insGCCGACCCCCCCCCACCTCCCTCCCAGA CGGGGCGGCTGGCCGGGCAGGGGGGCCGACACCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGG		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(95): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC CCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGGGGGGCCG ACA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0175 a0001c0001t0175	a0001c0001t0175g0233 a0001c0001t0175g0233	1	370	0.0027	102	c.855 others(119): Show c.855+8893_855+8894insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGG CCGGGCAGGGGGGCCGACACCCCC		MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN2B2_chr4_6570189_6628362	6579310	C C	CCACCACC others(95): Show CCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACC ACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAC CAT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0033 a0033	a0033c0062 a0033c0062	a0033c0062t0001 a0033c0062t0001	a0033c0062t0001g0102 a0033c0062t0001g0102	1	362	0.0028	102	c.391 others(117): Show c.391+835_391+836insTCACCACCACCATCACCATCACCACCACCA TCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCATC ACCACCATCACCACCACCACCA		MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579325	C C	CCACCACC others(95): Show CCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACC ACCATCACCATCACCACCACCACCATCACCACCATCACCACCACCACCAC CAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	362	0.0028	102	c.391 others(117): Show c.391+844_391+845insCCATCACCACCATCACCACCACCACCACCA CCACCATCACCATCACCACCACCACCATCACCACCATCACCACCACCACC ACCATCACCACCACCACCACCA		MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP2_chr2_209419047_209739112	209436015	T T	TTATATAT others(95): Show TTATATATAATATATACAGTATATATTATATATAATATATACAGTACATA TTATATATAATATATACAGTATATATTATATATAATATATACAGTACATA TTA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0008 a0002c0005t0008	a0002c0005t0008g0135 a0002c0005t0008g0135	1	148	0.0068	102	c.-22 others(123): Show c.-222+11748_-222+11749insTATATACAGTATATATTATATATA ATATATACAGTACATATTATATATAATATATACAGTATATATTATATATA ATATATACAGTACATATTATATATATAA		MAP2	ENSG00000078018.22	transcript	ENST00000682079.1	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K13_chr3_185358136_185494094	185453828	T T	TATATATG others(95): Show TATATATGTGATACATATATATGAGATATATATGTGATACATATATATGA GATATATATGTGATACATATATATGAGATATATATGTGATACATATATAT GAG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03942.hp1 HG04184.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001	a0001c0001t0002g0192 a0001c0001t0004g0059 a0001c0002t0001g0134 a0001c0001t0002g0192 a0001c0001t0004g0059 a0001c0002t0001g0134	3	278	0.0108	102	c.127 others(121): Show c.1278+2439_1278+2440insGTGATACATATATATGAGATATATAT GTGATACATATATATGAGATATATATGTGATACATATATATGAGATATAT ATGTGATACATATATATGAGATATAT		MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185453856	T T	TATATATG others(95): Show TATATATGTGATACATATATATGAGATATATATGTGATACATATATATGA GATATATATGTGATACATATATATGAGATATATATGTGATACATATATAT GAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0003 a0004c0010t0003	a0004c0010t0003g0260 a0004c0010t0003g0260	1	278	0.0036	102	c.127 others(121): Show c.1278+2467_1278+2468insGTGATACATATATATGAGATATATAT GTGATACATATATATGAGATATATATGTGATACATATATATGAGATATAT ATGTGATACATATATATGAGATATAT		MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185453934	G G	GATATATA others(95): Show GATATATATGATACATATATATGAGATATATATGTGATACATATATATGA GATATATATGATACATATATATGAGATATATATATGATACATATATATGA GAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	278	0.0036	102	c.127 others(121): Show c.1278+2572_1278+2573insTGATACATATATATGAGATATATATG ATACATATATATGAGATATATATATGATACATATATATGAGATATATATA TGATACATATATATGAGATATATATG		MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185453934	G G	GATATATA others(95): Show GATATATATGTGATACATATATATGAGATATATATGTGATACATATATAT GAGATATATATGATACATATATATGAGATATATATGATACATATATATGA GAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0118 a0001c0001t0033g0118	1	278	0.0036	102	c.127 others(121): Show c.1278+2548_1278+2549insTGATACATATATATGAGATATATATG TGATACATATATATGAGATATATATGATACATATATATGAGATATATATG ATACATATATATGAGATATATATATG		MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP4K1_chr19_38582641_38622953	38584521	T T	TAGCCCTG others(95): Show TAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCT GCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCAT CCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	348	0.0029	102	c.31 others(113): Show c.3125_*3226dupGGGATGGGGGGCACTGGCAGGGGAATCAGGGCCA GGATAAGGGGGGCACAGGCAGAGGGGTCAGGGCCAGGATAGGGGGGCACA GGGAGAGGGGTCAGGGCT		MAP4K1	ENSG00000104814.13	transcript	ENST00000396857.7	protein_coding					3119		chr19	TogoVar
MAP4K4_chr2_101692707_101899690	101759670	C C	CCCCCTCC others(95): Show CCCCCTCCCCATTCCCCTACCACTCCGCTCCCCATTCCCCTCCACCTCCC CTCCCCTCCCCATTCCCCTCCACCTCCCCTCCCCATTCCCCTCCCCCTCC TTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0195 a0001c0001t0046g0195	1	310	0.0032	102	c.124 others(121): Show c.124-31033_124-31032insACCACTCCGCTCCCCATTCCCCTCCA CCTCCCCTCCCCTCCCCATTCCCCTCCACCTCCCCTCCCCATTCCCCTCC CCCTCCTTTCCCCTCCCCATTCCCCT		MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32					INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP4K4_chr2_101692707_101899690	101759670	C C	CCCCCTCC others(95): Show CCCCCTCCCCATTCCCCTCCCACTCCGCTCCCCATTCCCCTCCACCTCCC CTCCCCTCCCCATTCCCCTCCACCTCCCCTCCCCATTCCCCTCCCCCTCC TTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp2 others(131): Show HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01074.hp2 HG01168.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01891.hp2 HG01934.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18971.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18999.hp1 NA19009.hp2 NA19063.hp2 NA19065.hp2 NA19079.hp2 NA19080.hp1 NA19084.hp2 NA19087.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0040 a0001c0001t0044 a0001c0001t0045 a0001c0001t0051 a0001c0001t0052 a0001c0002t0005 a0001c0002t0027 a0001c0002t0037 a0001c0004t0001 a0001c0004t0004 a0001c0005t0002 a0003c0006t0014	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(131): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0251 a0001c0001t0002g0253 a0001c0001t0002g0257 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0004g0046 a0001c0001t0004g0144 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0007g0009 a0001c0001t0012g0032 a0001c0001t0012g0066 a0001c0001t0012g0067 a0001c0001t0015g0082 a0001c0001t0015g0225 a0001c0001t0015g0245 a0001c0001t0015g0262 a0001c0001t0016g0160 a0001c0001t0016g0166 a0001c0001t0016g0169 a0001c0001t0016g0170 a0001c0001t0018g0007 a0001c0001t0018g0041 a0001c0001t0018g0045 a0001c0001t0018g0069 a0001c0001t0020g0206 a0001c0001t0020g0244 a0001c0001t0020g0250 a0001c0001t0020g0256 a0001c0001t0021g0198 a0001c0001t0024g0231 a0001c0001t0024g0254 a0001c0001t0024g0255 a0001c0001t0029g0235 a0001c0001t0030g0259 a0001c0001t0030g0260 a0001c0001t0031g0081 a0001c0001t0031g0261 a0001c0001t0040g0173 a0001c0001t0044g0038 a0001c0001t0045g0065 a0001c0001t0051g0246 a0001c0001t0052g0258 a0001c0002t0005g0196 a0001c0002t0005g0214 a0001c0002t0005g0218 a0001c0002t0005g0219 a0001c0002t0005g0220 a0001c0002t0005g0222 a0001c0002t0005g0223 a0001c0002t0005g0224 a0001c0002t0027g0221 a0001c0002t0037g0164 a0001c0004t0001g0028 a0001c0004t0004g0029 a0001c0005t0002g0233 a0003c0006t0014g0165	134	310	0.4323	102	c.124 others(121): Show c.124-31030_124-31029insACTCCGCTCCCCATTCCCCTCCACCT CCCCTCCCCTCCCCATTCCCCTCCACCTCCCCTCCCCATTCCCCTCCCCC TCCTTTCCCCTCCCCATTCCCCTCCC		MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32					INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP4K4_chr2_101692707_101899690	101759670	C C	CCCCCTCC others(95): Show CCCCCTCCCCATTCCCCTCCCACTCCGCTCCCCATTCCCCTCCACCTCCC CTCCCCTCCCCATTCCCCTCCCCCTCCCCTCCCCATTCCCCTCCCCCTCC TTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	310	0.0032	102	c.124 others(121): Show c.124-31030_124-31029insACTCCGCTCCCCATTCCCCTCCACCT CCCCTCCCCTCCCCATTCCCCTCCCCCTCCCCTCCCCATTCCCCTCCCCC TCCTTTCCCCTCCCCATTCCCCTCCC		MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32					INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP4K4_chr2_101692707_101899690	101759671	C C	CCCCTCCC others(95): Show CCCCTCCCCATTCCCCTCCCACTCCCGCTCCCCATTCCCCTCCACCTCCC CTCCCCTCCCCATTCCCCTCCACCTCCCCTCCCCATTCCCCTCCCCCTCC TTT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	310	0.0032	102	c.124 others(121): Show c.124-31030_124-31029insACTCCCGCTCCCCATTCCCCTCCACC TCCCCTCCCCTCCCCATTCCCCTCCACCTCCCCTCCCCATTCCCCTCCCC CTCCTTTCCCTCCCCATTCCCCTCCC		MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32					INFO_REALIGN_3_PRIME	chr2	TogoVar
MARCHF4_chr2_216252865_216377483	216300344	A A	ATATACAC others(95): Show ATATACACATATATATACGTATATATATGTGTATATATATATACGTATAT ATATGTATATACATATATATATACGTATATATGTATATACGTATATATAT ACG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp2 HG02258.hp1 others(2): Show HG01109.hp1 HG02145.hp2 HG02258.hp1 HG02647.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 others(2): Show a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0006g0165 a0001c0001t0006g0263	5	330	0.0152	102	c.517 others(121): Show c.517-16616_517-16615insCGTATATATATACGTATATACATATA TACGTATATATATATGTATATACATATATATACGTATATATATATACACA TATATATACGTATATATATGTGTATA		MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding	1/3						chr2	TogoVar
MAS1_chr6_159885988_159922447	159898616	T T	TCCTCCTC others(95): Show TCCTCCTCCTCCCTCTTCCTCCTCTCTTCCTCCTCCTCCCTCCTCCTGCC TTCTTCCTCCTCCCTCTTCCTCCTCCTCTTCCTCCTCCTCCCTCTTCCTC CTC	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	348	0.0029	102	c.-24 others(119): Show c.-243-553_-243-552insCTCCTCTCTTCCTCCTCCTCCCTCCTCC TGCCTTCTTCCTCCTCCCTCTTCCTCCTCCTCTTCCTCCTCCTCCCTCTT CCTCCTCCCTCCTCCTCCCTCTTC		MAS1	ENSG00000130368.7	transcript	ENST00000674077.2	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
MAS1_chr6_159885988_159922447	159898616	T T	TCCTCCTC others(95): Show TCCTCCTCCTCCCTCTTCCTCCTCTCTTCCTCCTCCTCCCTCCTCCTGCT TCTTCCTCCTCCCTCTTCCTCCTCCCTCTTCCTCCTCCTCCCTCTTCCTC CTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(184): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18944.hp1 NA18946.hp1 NA18955.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18973.hp2 NA18975.hp1 NA18979.hp1 NA18985.hp2 NA18988.hp1 NA18993.hp1 NA18994.hp2 NA19002.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19064.hp2 NA19070.hp2 NA19072.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(65): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0070 a0001c0001t0099 a0001c0001t0100 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0002t0001 a0001c0002t0007 a0001c0002t0008 a0001c0002t0024 a0001c0002t0085 a0001c0002t0087 a0001c0002t0091 a0001c0002t0094	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 others(123): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0019 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0062 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0004g0002 a0001c0001t0004g0003 a0001c0001t0004g0010 a0001c0001t0004g0019 a0001c0001t0004g0029 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0074 a0001c0001t0004g0154 a0001c0001t0005g0009 a0001c0001t0005g0061 a0001c0001t0006g0004 a0001c0001t0006g0055 a0001c0001t0009g0002 a0001c0001t0009g0021 a0001c0001t0009g0040 a0001c0001t0009g0082 a0001c0001t0010g0012 a0001c0001t0010g0028 a0001c0001t0010g0150 a0001c0001t0011g0002 a0001c0001t0011g0003 a0001c0001t0011g0004 a0001c0001t0011g0094 a0001c0001t0012g0023 a0001c0001t0012g0071 a0001c0001t0012g0151 a0001c0001t0013g0032 a0001c0001t0013g0063 a0001c0001t0013g0087 a0001c0001t0013g0089 a0001c0001t0015g0016 a0001c0001t0015g0097 a0001c0001t0015g0103 a0001c0001t0016g0013 a0001c0001t0016g0068 a0001c0001t0018g0009 a0001c0001t0019g0002 a0001c0001t0019g0003 a0001c0001t0020g0079 a0001c0001t0020g0084 a0001c0001t0026g0028 a0001c0001t0026g0052 a0001c0001t0026g0149 a0001c0001t0027g0022 a0001c0001t0027g0099 a0001c0001t0027g0100 a0001c0001t0028g0007 a0001c0001t0029g0019 a0001c0001t0029g0064 a0001c0001t0030g0007 a0001c0001t0031g0020 a0001c0001t0032g0020 a0001c0001t0039g0048 a0001c0001t0040g0039 a0001c0001t0041g0022 a0001c0001t0042g0022 a0001c0001t0044g0091 a0001c0001t0045g0035 a0001c0001t0046g0035 a0001c0001t0047g0003 a0001c0001t0048g0155 a0001c0001t0049g0013 a0001c0001t0050g0007 a0001c0001t0051g0004 a0001c0001t0052g0009 a0001c0001t0053g0003 a0001c0001t0054g0076 a0001c0001t0055g0066 a0001c0001t0056g0004 a0001c0001t0057g0003 a0001c0001t0058g0003 a0001c0001t0059g0003 a0001c0001t0060g0007 a0001c0001t0061g0002 a0001c0001t0062g0037 a0001c0001t0064g0075 a0001c0001t0065g0002 a0001c0001t0066g0004 a0001c0001t0067g0067 a0001c0001t0068g0002 a0001c0001t0070g0095 a0001c0001t0099g0102 a0001c0001t0100g0056 a0001c0001t0102g0101 a0001c0001t0103g0147 a0001c0001t0104g0088 a0001c0001t0105g0104 a0001c0001t0106g0058 a0001c0001t0107g0012 a0001c0001t0108g0016 a0001c0001t0109g0065 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0038 a0001c0002t0001g0143 a0001c0002t0007g0014 a0001c0002t0007g0034 a0001c0002t0007g0059 a0001c0002t0008g0015 a0001c0002t0008g0133 a0001c0002t0008g0148 a0001c0002t0024g0015 a0001c0002t0085g0038 a0001c0002t0087g0098 a0001c0002t0091g0014 a0001c0002t0094g0054	187	348	0.5374	102	c.-24 others(119): Show c.-243-553_-243-552insCTCCTCTCTTCCTCCTCCTCCCTCCTCC TGCTTCTTCCTCCTCCCTCTTCCTCCTCCCTCTTCCTCCTCCTCCCTCTT CCTCCTCCCTCCTCCTCCCTCTTC		MAS1	ENSG00000130368.7	transcript	ENST00000674077.2	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
MBOAT1_chr6_20094684_20217469	20111804	T T	TCATATAG others(95): Show TCATATAGATACATATATATACATATATATACATATATATACATATATAT ACATATATATATACATATATATACATATATATACATATATATACATATAT ATA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	336	0.0030	102	c.120 others(121): Show c.1209+1071_1209+1072insTATATATATGTATATATATGTATATA TATGTATATATATGTATATATATATGTATATATATGTATATATATGTATA TATATGTATATATATGTATCTATATG		MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	11/12						chr6	TogoVar
MBP_chr18_76973833_77137783	76975154	C C	CCTTTTCT others(95): Show CCTTTTCTTTTCTTTTCTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0184 a0001c0002t0001g0184	1	396	0.0025	102	c.52 others(113): Show c.5272_*5273insAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAGAAAAGAAAAGAAAAG		MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding					3678		chr18	TogoVar
MED16_chr19_862963_898187	866551	A A	AGGCCCGC others(95): Show AGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTCCACCCGCCG CGGGCCCGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCC GCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	56	0.0179	102	c.15 others(113): Show c.1549_*1550insCGCGGCGGGTGGACGGGGAGGACATGGGAGCGCT GGCGAGGGGTGCGGGCCCGCGGCGGGTGGACGGAGAGGAGATGGGAGCGC TGGCGAGGGGTGCGGGCC		MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding					1411		chr19	TogoVar
MED16_chr19_862963_898187	866658	T T	TGCACCCC others(95): Show TGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCAGGC CCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTCCACCCATCGCGGG CCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	56	0.0179	102	c.14 others(113): Show c.1442_*1443insGGGCCCGCGATGGGTGGACGGAGAGGAGATGGGA GCGCTGGCGAGGGGTGCGGGCCTGCGGCGGGTGGACGGGGAGGACATGGG AGCGCTGGCGAGGGGTGC		MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding					1304		chr19	TogoVar
MED16_chr19_862963_898187	866899	A A	ACCCACTG others(95): Show ACCCACTGCGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTC CACCCACTGCGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGT CCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	1	56	0.0179	102	c.12 others(113): Show c.1201_*1202insCGGACGGAGAGGAGATGGGAGCGCTGGCGAGGGG TGCGGGCCCGCAGTGGGTGGACGGAGAGGAGATGGGAGCGCTGGCGAGGG GTGCGGGCCCGCAGTGGG		MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding					1063		chr19	TogoVar
MEGF11_chr15_65890299_66258750	66039746	T T	TCTGAGCC others(95): Show TCTGAGCCGGGTCAGGCGGCGGTGGGGTGACGGTCCTGAGCCGGGTCAGG CGGCGGTGGGGTGACGGTCCTGAGCCGGGTCAGGCGGCGGTGGGGTGACG GTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03540.hp1 HG02258.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0085 a0001c0001t0005g0136 a0001c0001t0001g0085 a0001c0001t0005g0136	2	176	0.0114	102	c.394 others(121): Show c.394+54554_394+54655dupGACCGTCACCCCACCGCCGCCTGACC CGGCTCAGGACCGTCACCCCACCGCCGCCTGACCCGGCTCAGGACCGTCA CCCCACCGCCGCCTGACCCGGCTCAG		MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	5/25						chr15	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(95): Show ACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC GCG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0040 a0040	a0040c0065 a0040c0065	a0040c0065t0043 a0040c0065t0043	a0040c0065t0043g0108 a0040c0065t0043g0108	1	292	0.0034	102	c.377 others(119): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MEP1A_chr6_46788389_46844778	46794032	A A	AAGAAACA others(95): Show AAGAAACATATAAGAATAGCCTCTGTTAAATTTATTCAAAACCCTATCCC ACTCCCAAACACTATCATATTAATATCTCGACTGAAACAAAGAAAATATC CGT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	352	0.0028	102	c.145 others(117): Show c.145+317_145+318insGAAACATATAAGAATAGCCTCTGTTAAATT TATTCAAAACCCTATCCCACTCCCAAACACTATCATATTAATATCTCGAC TGAAACAAAGAAAATATCCGTA		MEP1A	ENSG00000112818.11	transcript	ENST00000230588.9	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
METRNL_chr17_83074609_83100122	83090262	C C	CCACACAC others(95): Show CCACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCCCGC CCTGCCCCAGGGTGGGAGCCACACACCCCCGCCCCGCCCCAGGGTGGGAG CCA	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18984.hp1 HG02129.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0377 a0001c0001t0001g0324 a0001c0001t0001g0377	2	399	0.0050	102	c.557 others(119): Show c.557-2898_557-2897insCCCCGCCCCGCCCCAGGGTGGGAGCCAC ACACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACCCCCGCCCCG CCCCAGGGTGGGAGCCACACACAC		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(95): Show ACACCCCCCCCGCCCCGCCCCAGGGTGGGAACCACACACCCCCGCCCTGC CCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGCCCCAGGGTGGG AAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	399	0.0025	102	c.557 others(119): Show c.557-2900_557-2899insCCCCCCCGCCCCGCCCCAGGGTGGGAAC CACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACACCCCCCAC CCCCCGCCCCAGGGTGGGAACCAC		METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr17	TogoVar
METTL26_chr16_629430_641305	635397	T T	TGAGGCTG others(95): Show TGAGGCTGGAGACCCTCACCCCGACTGTGATGGGGGAGGCTGGAAACCCT CACCCCGACTGTGATGGGGGAGGCTGGAGACCCTCACCCCGACTGTGATG GGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA20129.hp1 HG02258.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	2	404	0.0050	102	c.361 others(115): Show c.361-58_361-57insCCCCATCACAGTCGGGGTGAGGGTCTCCAGCC TCCCCCATCACAGTCGGGGTGAGGGTTTCCAGCCTCCCCCATCACAGTCG GGGTGAGGGTCTCCAGCCTC		METTL26	ENSG00000130731.16	transcript	ENST00000301686.13	protein_coding	2/5						chr16	TogoVar
MET_chr7_116667196_116803377	116726141	A A	ATATATAT others(95): Show ATATATATATATATATATATATATATATATATACACACACACACTATATA TACACACACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGT GTG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0154 a0001c0005t0006g0154	1	340	0.0029	102	c.120 others(121): Show c.1201-5526_1201-5525insATATATATATATATATATATATATAT ATATACACACACACACTATATATACACACACACATGCATATACATATGTG TTGTGTGTGTGTGTTTGTGTGTGTGT		MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(95): Show GTATATATATATATATATATATACACACACACACTATATATACACACACA CATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTATATAT ATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0287 a0001c0001t0007g0288 a0001c0001t0007g0287 a0001c0001t0007g0288	2	340	0.0059	102	c.120 others(121): Show c.1201-5503_1201-5502insCACACACACACTATATATACACACAC ACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTATATA TATATATATATATATATATATATATA		MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(95): Show GTATATATATATATATATATATATATACACACACACACTATATATACACA CACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTATAT ATA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0043 a0001c0003t0003g0043	1	340	0.0029	102	c.120 others(121): Show c.1201-5499_1201-5498insCACACACACACTATATATACACACAC ACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTATATATA TATATATATATATATATATATATATA		MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(95): Show GTATATATATATATATATATATATATATACACACACACACTATATATACA CACACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGT ATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0308 a0001c0001t0002g0308	1	340	0.0029	102	c.120 others(121): Show c.1201-5497_1201-5496insCACACACACACTATATATACACACAC ACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTATATA TATATATATATATATATATATATATA		MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(95): Show GTATATATATATATATATATATATATATACACACACTATATATACACACA CACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTATAT ATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01257.hp2 HG01433.hp2 others(6): Show HG00323.hp2 HG01257.hp2 HG01433.hp2 HG02559.hp1 HG03041.hp1 HG03516.hp1 NA18522.hp1 NA19043.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0008 a0006c0013 a0001c0001 a0001c0008 a0006c0013	a0001c0001t0002 a0001c0001t0005 a0001c0008t0005 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0008t0005 a0006c0013t0002	a0001c0001t0002g0005 a0001c0001t0002g0171 a0001c0001t0002g0249 others(6): Show a0001c0001t0002g0005 a0001c0001t0002g0171 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0294 a0001c0001t0005g0183 a0001c0001t0005g0268 a0001c0008t0005g0060 a0006c0013t0002g0006	9	340	0.0265	102	c.120 others(121): Show c.1201-5497_1201-5496insCACACACTATATATACACACACACAT GCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTATATATATA TATATATATATATATATATATATATA		MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(95): Show GTATATATATATATATATATATATATATATACACACACACACTATATATA CACACACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGT ATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0236 a0001c0003t0021g0236	1	340	0.0029	102	c.120 others(121): Show c.1201-5495_1201-5494insCACACACACACTATATATACACACAC ACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTATATATA TATATATATATATATATATATATATA		MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(95): Show GTATATATATATATATATATATATATATATACACACACACACTATATATA CACACACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGT GTA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0190 a0001c0004t0008g0190	1	340	0.0029	102	c.120 others(121): Show c.1201-5495_1201-5494insCACACACACACTATATATACACACAC ACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTATATA TATATATATATATATATATATATATA		MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(95): Show GTATATATATATATATATATATATATATATATACACACACACACTATATA TACACACACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGT GTA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0073 a0001c0003t0003g0073	1	340	0.0029	102	c.120 others(121): Show c.1201-5493_1201-5492insCACACACACACTATATATACACACAC ACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTATATATA TATATATATATATATATATATATATA		MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATGTAT others(95): Show GTATGTATATATATATATATATATACACACACACACTATATATACACACA CACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTATAT ATA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0315 a0001c0001t0005g0315	1	340	0.0029	102	c.120 others(121): Show c.1201-5522_1201-5521insGTATATATATATATATATATACACAC ACACACTATATATACACACACACATGCATATACATATGTGTTGTGTGTGT GTGTTTGTGTGTGTGTATATATATAT		MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATGTAT others(95): Show GTATGTATATATATATATATATATATACACACACACACTATATATACACA CACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTATAT ATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02630.hp1 HG02976.hp2 others(2): Show HG01358.hp1 HG02630.hp1 HG02976.hp2 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0004t0012 a0001c0004t0022 others(1): Show a0001c0001t0005 a0001c0004t0012 a0001c0004t0022 a0001c0004t0029	a0001c0001t0005g0223 a0001c0004t0012g0127 a0001c0004t0012g0128 others(2): Show a0001c0001t0005g0223 a0001c0004t0012g0127 a0001c0004t0012g0128 a0001c0004t0022g0255 a0001c0004t0029g0189	5	340	0.0147	102	c.120 others(121): Show c.1201-5522_1201-5521insGTATATATATATATATATATATACAC ACACACACTATATATACACACACACATGCATATACATATGTGTTGTGTGT GTGTGTTTGTGTGTGTATATATATAT		MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTGTATAT others(95): Show GTGTATATATATATATATATATATATATACACACACTATATATACACACA CACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTATAT ATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01261.hp2 HG00741.hp1 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0192 a0001c0001t0005g0193 a0001c0001t0005g0192 a0001c0001t0005g0193	2	340	0.0059	102	c.120 others(121): Show c.1201-5524_1201-5523insGTATATATATATATATATATATATAT ACACACACTATATATACACACACACATGCATATACATATGTGTTGTGTGT GTGTGTTTGTGTGTGTGTATATATAT		MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142067986	A A	ATATATAT others(95): Show ATATATATATATATAAATATATATATATATATATAAATATATATATATAT ATATATATATATATATATAAATATATATATATATATATATATATATTTTT TTT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA19005.hp1 NA18956.hp2 NA19005.hp1	a0023 a0046 a0023 a0046	a0023c0029 a0046c0086 a0023c0029 a0046c0086	a0023c0029t0001 a0046c0086t0001 a0023c0029t0001 a0046c0086t0001	a0023c0029t0001g0226 a0046c0086t0001g0249 a0023c0029t0001g0226 a0046c0086t0001g0249	2	316	0.0063	102	c.500 others(119): Show c.5004+562_5004+563insATATATATATATAAATATATATATATAT ATATAAATATATATATATATATATATATATATATATATAAATATATATAT ATATATATATATATATTTTTTTTT		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	42/70					INFO_REALIGN_3_PRIME	chr7	TogoVar
MGARP_chr4_139261165_139285225	139262411	T T	TTAGATAT others(95): Show TTAGATATATATATATAAGAAATTCTTAAAATATATATATTCTTATATAT ATATATATATTCATATATATATATATATATTCATATATATATATATATAT ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	364	0.0028	102	c.41 others(113): Show c.4187_*4188insTATATATATATATATATATATGAATATATATATA TATATATGAATATATATATATATATAAGAATATATATATTTTAAGAATTT CTTATATATATATATCTA		MGARP	ENSG00000137463.5	transcript	ENST00000398955.2	protein_coding					3753		chr4	TogoVar
MIA3_chr1_222613097_222673007	222617967	T T	TCCCCGCC others(95): Show TCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCGTCCCCGCCCCAGCCC CCGCCCCAGCCCCCCCGTCCCCGCCCCGTCCCCGCCCCCGTCCCCGCCCC CGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0210 a0001c0002t0001g0210	1	370	0.0027	102	c.-14 others(111): Show c.-144_-143insCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCGTC CCCGCCCCAGCCCCCGCCCCAGCCCCCCCGTCCCCGCCCCGTCCCCGCCC CCGTCCCCGCCCCCGC		MIA3	ENSG00000154305.18	transcript	ENST00000344922.10	protein_coding					129		chr1	TogoVar
MLPH_chr2_237482251_237560322	237543630	G G	GGAGGGGA others(95): Show GGAGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTG AGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTG AGT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0153 a0002c0002t0002g0153	1	286	0.0035	102	c.153 others(119): Show c.1539+972_1539+973insAGGGGACAGTGGTGAGTGGGGGGACAGT GGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGT GGCAAGTGGGCACAGTGGTGAGTG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543926	G G	GGGACAGT others(95): Show GGGACAGTGTGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGAGTG GGGACAGTGGTGAGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGAGTG GGC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0013 a0005c0004t0001g0013	1	286	0.0035	102	c.153 others(121): Show c.1539+1267_1539+1268insGGACAGTGTGTGGGGGGACAGTGGTG AGTTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTAAT GAGTCGGGGGACAGTGGTGAGTGGGC		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15						chr2	TogoVar
MN1_chr22_27743277_27806756	27805650	G G	GCACACAC others(95): Show GCACACACACACACACACATACACCTCCATAGTGTGTGGCTATGTCAGCA CACACACACACACACACATATACACCTCCATAGCGTGTGGCTATGTCAGC ACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	394	0.0025	102	c.-51 others(113): Show c.-5108_-5107insTGTGCTGACATAGCCACACGCTATGGAGGTGTAT ATGTGTGTGTGTGTGTGTGTGCTGACATAGCCACACACTATGGAGGTGTA TGTGTGTGTGTGTGTGTG		MN1	ENSG00000169184.7	transcript	ENST00000302326.5	protein_coding					3895		chr22	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)