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
EHD2_chr19_47708422_47748134	47718683	T T	TGGGGCCT others(101): Show TGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCCGGACTCC TGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCTGGGTCTGAGGGAG GAGGGGCTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02818.hp2 HG02886.hp1 HG02622.hp1 HG02818.hp2 HG02886.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0007 a0001c0002 a0002c0007	a0001c0002t0006 a0002c0007t0003 a0002c0007t0006 a0001c0002t0006 a0002c0007t0003 a0002c0007t0006	a0001c0002t0006g0031 a0002c0007t0003g0030 a0002c0007t0006g0032 a0001c0002t0006g0031 a0002c0007t0003g0030 a0002c0007t0006g0032	3	398	0.0075	108	c.502 others(121): Show c.502+80_502+81insGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGC TGGGCCCGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCC TGGGTCTGAGGGAGGAGGGGCTGGGG		EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
EHD2_chr19_47708422_47748134	47718689	C C	CGGACTCC others(101): Show CGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTC TGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGG CTGGGGCCT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	398	0.0025	108	c.502 others(123): Show c.502+165_502+166insGTCTGAGGGAGGAGGGGCTGGGGCCTGGAC TCCTGGGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGG GAGGAGGGGCTGGGGTCTGGACTCCTGG		EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
EHD2_chr19_47708422_47748134	47718716	G G	GCTGGGGT others(101): Show GCTGGGGTCTGGACTCCTGGATCTGAGGGAGGAGGGGCTGGGCCCAGACT CCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGG GAGGAGGGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG03516.hp1 others(1): Show HG01891.hp2 HG02055.hp2 HG03516.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0003 a0001c0004t0003 a0001c0002t0003 a0001c0004t0003	a0001c0002t0003g0018 a0001c0002t0003g0028 a0001c0002t0003g0029 others(1): Show a0001c0002t0003g0018 a0001c0002t0003g0028 a0001c0002t0003g0029 a0001c0004t0003g0180	4	398	0.0101	108	c.502 others(123): Show c.502+129_502+130insATCTGAGGGAGGAGGGGCTGGGCCCAGACT CCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGG GAGGAGGGACTGGGGTCTGGACTCCTGG		EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
EIF2B3_chr1_44845522_44991595	44942377	T T	TTATATAT others(101): Show TTATATATATATATATGTGTGTATATATATATGTATATATATATATATAC ATATATATATACACATATATATATACACATATATATACATATATATATAT ATATATACA	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18956.hp1 NA18969.hp2 others(3): Show HG02132.hp1 NA18956.hp1 NA18969.hp2 NA18977.hp1 NA18988.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0293 others(3): Show a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0302 a0001c0001t0001g0315	6	322	0.0186	108	c.295 others(123): Show c.295-713_295-712insTGTATATATATATATATATATGTATATATA TGTGTATATATATATGTGTATATATATATGTATATATATATATATACATA TATATATACACACATATATATATATATA		EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11						chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942377	T T	TTATATAT others(101): Show TTATATATATATATATGTGTGTATATATATATGTGTATATATATATATAC ATATATATATACACATATATATATACACATATATATACATATATATATAT ATATATACA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	322	0.0031	108	c.295 others(123): Show c.295-713_295-712insTGTATATATATATATATATATGTATATATA TGTGTATATATATATGTGTATATATATATGTATATATATATATACACATA TATATATACACACATATATATATATATA		EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11						chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942378	T T	TATATATA others(101): Show TATATATATATATATGTGTGTATATATATATGTATATATATATATATACA TATATATATACACACATATATATATACACATATATATACATATATATATA TATATATAC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0317 a0001c0001t0001g0309 a0001c0001t0001g0317	2	322	0.0062	108	c.295 others(123): Show c.295-714_295-713insGTATATATATATATATATATGTATATATAT GTGTATATATATATGTGTGTATATATATATGTATATATATATATATACAT ATATATATACACACATATATATATATAT		EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11						chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942378	T T	TATATATA others(101): Show TATATATATATATATGTGTGTATATATATATGTATATATATATATATACA TATATATATACACATATATATATACACACATATATATACATATATATATA TATATATAC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	322	0.0031	108	c.295 others(123): Show c.295-714_295-713insGTATATATATATATATATATGTATATATAT GTGTGTATATATATATGTGTATATATATATGTATATATATATATATACAT ATATATATACACACATATATATATATAT		EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11						chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942380	T T	TATATATA others(101): Show TATATATATATATGTGTGTATATATATATGTATATATATATATATACATA TATATATACACACATATATATATACACATATATATACATATATATATATA TATATATAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	322	0.0031	108	c.295 others(123): Show c.295-716_295-715insGTATATATATATATATATATATGTATATAT ATGTGTATATATATATGTGTGTATATATATATGTATATATATATATATAC ATATATATATACACACATATATATATAT		EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11						chr1	TogoVar
EIF2S2_chr20_34083309_34117243	34114275	G G	GTACTAAA others(101): Show GTACTAAAAATACAAAAATTAGCGGGGCATGGTGGCGTGCTCCTGTAATC CCAGCTACTCAGGTGGCTGAGACAGGAGAATCACTTGAACTCGGGAGGCA GAGATTGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	362	0.0028	108	c.-21 others(119): Show c.-2166_-2165insTGCAATCTCTGCCTCCCGAGTTCAAGTGATTCTC CTGTCTCAGCCACCTGAGTAGCTGGGATTACAGGAGCACGCCACCATGCC CCGCTAATTTTTGTATTTTTAGTA		EIF2S2	ENSG00000125977.7	transcript	ENST00000374980.3	protein_coding					2033		chr20	TogoVar
EIF3B_chr7_2349827_2385745	2377779	G G	GGGTGTCA others(101): Show GGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGAACCCTGGGGGTGATCAT TGGAGCGAAGGAGCAGGCTGCGAGCTCTCCTGGGAATCCGTGTTCAGTGA TGACCCTGA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0091 a0003c0004t0001g0091	1	384	0.0026	108	c.215 others(125): Show c.2154+734_2154+735insGAACCCTGGGGGTGATCATTGGAGCGAA GGAGCAGGCTGCGAGCTCTCCTGGGAATCCGTGTTCAGTGATGACCCTGA GGTGTCATGGAGGAAGGAGCAGGCGCGAGC		EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF4G3_chr1_20801479_21181897	21179929	T T	TATATTAT others(101): Show TATATTATGTAATATATTATATATAATATATATTATATATTATATATAAT ATATATTACATAATATATTACATAATATATTATATGTAATATATAATATA TAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01884.hp2 HG02258.hp2 others(4): Show HG01069.hp1 HG01884.hp2 HG02258.hp2 HG02451.hp1 HG02717.hp1 HG06807.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0014 a0001c0001t0007 a0001c0001t0014	a0001c0001t0007g0001 a0001c0001t0007g0036 a0001c0001t0007g0037 others(4): Show a0001c0001t0007g0001 a0001c0001t0007g0036 a0001c0001t0007g0037 a0001c0001t0007g0038 a0001c0001t0007g0040 a0001c0001t0007g0044 a0001c0001t0014g0118	7	312	0.0224	108	c.-36 others(119): Show c.-3664_-3663insTATATATTATATATTATATATTACATATAATATA TTATGTAATATATTATGTAATATATATTATATATAATATATAATATATAT TATATATAATATATTACATAATAT		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding					3033		chr1	TogoVar
EIPR1_chr2_3183970_3382818	3221066	G G	GCACACAA others(101): Show GCACACAATGGCCGAGGTACACTCTAGAACACTCACAGTGAGTCGGGAAC ACACGCACACAATGGCCGAGGTACACTCTAGAACACTCACAGTGAGTCGG GAACACACA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	250	0.0040	108	c.417 others(125): Show c.417-6819_417-6818insTGTGTGTTCCCGACTCACTGTGAGTGTT CTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAG TGTTCTAGAGTGTACCTCGGCCATTGTGTG		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8						chr2	TogoVar
EIPR1_chr2_3183970_3382818	3221097	T T	TTCACAGT others(101): Show TTCACAGTGAGTCCGGAACACACGCACACAATGGCCGAGGTACACTCTAG AACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACT CTAGAACAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	250	0.0040	108	c.417 others(125): Show c.417-6957_417-6850dupGTGTTCTAGAGTGTACCTCGGCCATTGT GTGCGTGTGTTCCCGACTCACTGTGAGTGTTCTAGAGTGTACCTCGGCCA TTGTGTGCGTGTGTTCCGGACTCACTGTGA		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8						chr2	TogoVar
EIPR1_chr2_3183970_3382818	3221256	A A	ACACTCAC others(101): Show ACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0243 a0001c0001t0003g0243	1	250	0.0040	108	c.417 others(125): Show c.417-7009_417-7008insCTCTAGAGTGTACCTCGGCCATTGTGTG CGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTG TGTGCGTGTGTTCCCGACTCACTGTGAGTG		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8						chr2	TogoVar
EIPR1_chr2_3183970_3382818	3221418	A A	ACACTCAC others(101): Show ACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	250	0.0040	108	c.417 others(125): Show c.417-7171_417-7170insCTCTAGAGTGTACCTCGGCCATTGTGTG CGTGTGTTCCCGACTCACTGTGAGTGTTCTAGAGTGTACCTCGGCCATTG TGTGCGTGTGTTCCCGACTCACTGTGAGTG		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8						chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315955	C C	CACCATCC others(101): Show CACCATCCTCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATAC ACACCCCCT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA19005.hp2 NA18945.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0053 a0001c0001t0001g0058	2	250	0.0080	108	c.259 others(127): Show c.259+22061_259+22062insAGGGGGTGTGTATGGGGATGGTGGTG ATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAG GGGGTGTGGATGGGGATGGTGGTGAGGATGGT		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8						chr2	TogoVar
EML1_chr14_99788413_99947060	99928098	G G	GTGGTGGT others(101): Show GTGGTGGTGATGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGT GCTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGG TGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0110 a0002c0001t0002g0110	1	288	0.0035	108	c.190 others(127): Show c.1909+7227_1909+7228insTGATGGTGATGGTGGTGGTGGAGGTG GTGGTGGTGGTGGTGGTGCTGGTGGTGATGGTGGTGGTGGTGGTGATGGT GGTGATGGTGGTGGTGGTGGTGGTGATGGTGG		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928218	G G	GTGGTGAT others(101): Show GTGGTGATGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGAT GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGGTGA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0135 a0001c0004t0001g0135	1	288	0.0035	108	c.190 others(127): Show c.1909+7346_1909+7347insATGGTGATGGTGGTGGTGGAGGTGGT GGTGGTGGAGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGGTGATGGTG		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
ENOSF1_chr18_665318_717630	667047	T T	TGATGGTG others(101): Show TGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGTG ATGGTGATGGTGATGGTGATGGTGATGGAGATGGTGATGGAGATGGTGAT GGTGATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0259 a0001c0003t0001g0259	1	418	0.0024	108	c.72 others(119): Show c.7257_*7258insTCCATCACCATCACCATCTCCATCACCATCTCCA TCACCATCACCATCACCATCACCATCACCATCTCCATCACCATCACCATC TCCATCACCATCACCATCACCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3270		chr18	TogoVar
ENOSF1_chr18_665318_717630	712349	G G	GCCGCGCT others(101): Show GCCGCGCTTACCATGGCGTCCGCGCTTACCATGGCGTCCGCGCTTACCAT GGCGTCCGCGCTTACCATGGCGTCCGCGCTTACCATGGCGTCCGCGCTTA CCATGGCGT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG00642.hp1 others(24): Show HG00558.hp1 HG00621.hp2 HG00642.hp1 HG01516.hp2 HG02109.hp1 HG02132.hp2 HG02258.hp2 HG02630.hp1 HG02895.hp2 HG03098.hp1 HG03516.hp2 NA18941.hp1 NA18943.hp1 NA18971.hp2 NA18972.hp2 NA18982.hp2 NA18984.hp1 NA18993.hp2 NA19011.hp1 NA19057.hp1 NA19072.hp1 NA19077.hp2 NA19079.hp1 NA19082.hp2 NA19091.hp2 NA20129.hp2 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0002c0002t0004 a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 a0003c0007t0002 a0003c0007t0003 a0003c0007t0015	a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0002g0043 others(24): Show a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0006g0042 a0001c0001t0012g0040 a0001c0001t0012g0041 a0002c0002t0004g0056 a0003c0004t0002g0358 a0003c0004t0003g0355 a0003c0004t0003g0356 a0003c0004t0003g0359 a0003c0004t0004g0357 a0003c0007t0002g0353 a0003c0007t0002g0354 a0003c0007t0003g0361 a0003c0007t0015g0360	27	418	0.0646	108	c.84+ others(121): Show c.84+154_84+155insACGCCATGGTAAGCGCGGACGCCATGGTAAGC GCGGACGCCATGGTAAGCGCGGACGCCATGGTAAGCGCGGACGCCATGGT AAGCGCGGACGCCATGGTAAGCGCGG		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding	1/15						chr18	TogoVar
ENOX1_chr13_43208130_43791972	43616091	T T	TATATCTA others(101): Show TATATCTATATAGATAGATATCTATATATATAGATATCTATATAGATAGA TATCTATATAGATAGATATCTATATATAGATATCTATATAGATAGATATC TATATATAG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	188	0.0053	108	c.-21 others(129): Show c.-219+51387_-219+51388insCTATATATAGATATCTATCTATAT AGATATCTATATATAGATATCTATCTATATAGATATCTATCTATATAGAT ATCTATATATATAGATATCTATCTATATAGATAT		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16						chr13	TogoVar
ENPP7_chr17_79725943_79747219	79732136	A A	ATATATAT others(101): Show ATATATATATACATATATATATACATATATATATGTATATATATATATAC ATATATATATACATATATATATGTATATATATATATACACACACACATAT ATATATATG	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18942.hp1 NA18947.hp2 others(1): Show NA18940.hp2 NA18942.hp1 NA18947.hp2 NA19002.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0201 others(1): Show a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0001g0202	4	430	0.0093	108	c.253 others(123): Show c.253+754_253+755insCATATATATATACATATATATATGTATATA TATATATACATATATATATACATATATATATGTATATATATATATACACA CACACATATATATATATGTATATATATA		ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr17	TogoVar
EP400_chr12_131944942_132085460	131998636	T T	TCTTTGTA others(101): Show TCTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02970.hp1 HG02886.hp1 HG02970.hp1	a0003 a0005 a0003 a0005	a0003c0004 a0005c0065 a0003c0004 a0005c0065	a0003c0004t0002 a0005c0065t0001 a0003c0004t0002 a0005c0065t0001	a0003c0004t0002g0050 a0005c0065t0001g0068 a0003c0004t0002g0050 a0005c0065t0001g0068	2	208	0.0096	108	c.282 others(127): Show c.2827+3842_2827+3949dupACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAG		EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52					INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	131998879	A A	ACTTTGTA others(101): Show ACTTTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATAC AAAGTCTTTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGT ATACAAAGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0002 a0011c0020t0002	a0011c0020t0002g0027 a0011c0020t0002g0027	1	208	0.0048	108	c.282 others(127): Show c.2827+3987_2827+3988insAGTCTTGTATACAAAGTCTTTGTATA CAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAAGTCTTTG TATACAGTCTTGTATACAAAGTCTTTGTATAC		EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERBIN_chr5_65921575_66087546	66018506	T T	TTATATTA others(101): Show TTATATTATATAATATATATTATATATTATAATATATAATATATATTATA TAATATATATTATATAATATATATTATATAATATATATTATATAATATAT ATTATATAA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	306	0.0033	108	c.534 others(125): Show c.534-2811_534-2810insTATATAATATATATTATATATTATAATA TATAATATATATTATATAATATATATTATATAATATATATTATATAATAT ATATTATATAATATATATTATATAATATAT		ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25					INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	1121903	C C	CTCTATCT others(101): Show CTCTATCTATCTCTATCTCTATCTATCTCTATCTCTATCTCTATCTCTAT CTCTATCTCTATCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTCT ATCTGTGTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0122 a0002c0002t0006g0122	1	162	0.0062	108	c.156 others(127): Show c.1569+5877_1569+5878insATCTCTATCTCTATCTATCTCTATCT CTATCTCTATCTCTATCTCTATCTCTATCTATCTCTATCTCTATCTCTAT CTCTATCTCTATCTCTATCTGTGTCTCTATCT		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERFL_chr19_41902704_41933449	41914710	A A	ATCTCTGT others(101): Show ATCTCTGTCTCTCCCTCCCTTTCCACCATCTCTGTCTCTCCCTCCCTTTC CACCATCTCTGTCTCTCCCTCCCTTTCCACCATCTCTGTCTCTCCCTCCA CCATCTCCG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0239 a0001c0001t0003g0239	1	330	0.0030	108	c.-13 others(125): Show c.-13-1779_-13-1778insCGGAGATGGTGGAGGGAGAGACAGAGAT GGTGGAAAGGGAGGGAGAGACAGAGATGGTGGAAAGGGAGGGAGAGACAG AGATGGTGGAAAGGGAGGGAGAGACAGAGA		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
ERICH1_chr8_659200_736224	700515	G G	GGCGCACA others(101): Show GGCGCACAGACCCGCACACGCGCACAGGCCCGCACACGCGCACAGGCCCG CACACGCGCACAGGCCCGCACACGCGCACAGGCCCGCACAGGCGCACAGG CCCGCACAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01891.hp1 others(4): Show HG01069.hp2 HG01071.hp2 HG01891.hp1 HG02451.hp1 HG02970.hp2 HG03225.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0208 a0001c0001t0001g0230 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0208 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233	7	378	0.0185	108	c.170 others(125): Show c.170-7904_170-7903insGTGTGCGGGCCTGTGCGCCTGTGCGGGC CTGTGCGCGTGTGCGGGCCTGTGCGCGTGTGCGGGCCTGTGCGCGTGTGC GGGCCTGTGCGCGTGTGCGGGTCTGTGCGC		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERO1B_chr1_236210101_236286958	236239861	A A	ATATATAT others(101): Show ATATATATATGTGTATATATATGTATATATATATGTGTATATATATGTAT ATATATATGTGTATATATATGTATATATATATGTGTATATATATGTGTAT ATATATATG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp2 HG00735.hp1 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0023 a0002c0002t0011 a0002c0002t0023	a0002c0002t0011g0360 a0002c0002t0023g0359 a0002c0002t0011g0360 a0002c0002t0023g0359	2	396	0.0051	108	c.506 others(125): Show c.506-3464_506-3463insCATATATATATACACATATATATACACA TATATATATACATATATATACACATATATATATACATATATATACACATA TATATATACATATATATACACATATATATA		ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	6/15						chr1	TogoVar
ERO1B_chr1_236210101_236286958	236245498	A A	ATATATAT others(101): Show ATATATATACGTATATATATACACACGTATATATATGTATATATATATAC ACGTATATATATATGTATATATATATACACGTATATATATATGTATATAT ATATACACG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0011 a0003c0004t0011	a0003c0004t0011g0116 a0003c0004t0011g0116	1	396	0.0025	108	c.432 others(125): Show c.432-2004_432-2003insCGTGTATATATATATACATATATATATA CGTGTATATATATATACATATATATATACGTGTATATATATATACATATA TATACGTGTGTATATATATACGTATATATA		ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15						chr1	TogoVar
ESR1_chr6_151802682_152108274	151850114	T T	TTATATAT others(101): Show TTATATATATATTATTTTATATGCATATAAAATAATATATATATATAATT TTATATGCATATAAAATTATATATATATATTATTTTCTATGCATATAAAA TAATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02895.hp1 HG02897.hp2 others(2): Show HG02486.hp2 HG02895.hp1 HG02897.hp2 HG03453.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 others(2): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0003t0017	a0001c0001t0005g0171 a0001c0001t0007g0165 a0001c0001t0011g0173 others(2): Show a0001c0001t0005g0171 a0001c0001t0007g0165 a0001c0001t0011g0173 a0001c0001t0013g0169 a0001c0003t0017g0170	5	250	0.0200	108	c.643 others(125): Show c.643+7338_643+7339insTATTTTATATGCATATAAAATAATATAT ATATATAATTTTATATGCATATAAAATTATATATATATATTATTTTCTAT GCATATAAAATAATATATATATATATATAT		ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
ESR1_chr6_151802682_152108274	151850114	T T	TTATATAT others(101): Show TTATATATATATTATTTTATATGCATATAAAATAATATATATATATTATT TTATATGCATATAAAATAATATATATATATTATTTTATATGCATATAAAA TAATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01175.hp2 HG01433.hp2 others(27): Show HG00609.hp1 HG01175.hp2 HG01433.hp2 HG02004.hp1 HG02040.hp1 HG02083.hp1 HG02809.hp1 HG02818.hp2 HG03209.hp2 HG03540.hp1 HG03579.hp2 HG03927.hp1 HG04184.hp2 NA18612.hp2 NA18942.hp1 NA18967.hp2 NA18994.hp2 NA18998.hp1 NA19000.hp2 NA19030.hp2 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19081.hp1 NA19083.hp1 NA19086.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0025 a0001c0001t0031 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0001c0005t0001 a0001c0005t0004 a0001c0006t0001 a0001c0007t0001 a0001c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0048 a0001c0001t0001g0052 others(26): Show a0001c0001t0001g0002 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0002g0091 a0001c0001t0003g0092 a0001c0001t0005g0086 a0001c0001t0012g0174 a0001c0001t0025g0054 a0001c0001t0031g0061 a0001c0002t0001g0195 a0001c0002t0001g0197 a0001c0002t0002g0191 a0001c0002t0005g0241 a0001c0002t0008g0196 a0001c0003t0001g0089 a0001c0003t0003g0001 a0001c0003t0003g0058 a0001c0003t0003g0059 a0001c0004t0001g0053 a0001c0004t0001g0088 a0001c0004t0001g0120 a0001c0005t0001g0128 a0001c0005t0004g0127 a0001c0006t0001g0192 a0001c0007t0001g0205 a0001c0007t0001g0232 a0001c0013t0001g0129	30	250	0.1200	108	c.643 others(125): Show c.643+7338_643+7339insTATTTTATATGCATATAAAATAATATAT ATATATTATTTTATATGCATATAAAATAATATATATATATTATTTTATAT GCATATAAAATAATATATATATATATATAT		ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
ESRP1_chr8_94636174_94712466	94708909	C C	CTTTTTTT others(101): Show CTTTTTTTTTTTTTTTTTTTTTTGTTGTTTTTTTTTTTTTTTTCTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	374	0.0027	108	c.30 others(119): Show c.3020_*3021insTTTTTTTTTTTTTTTTTTTTTTGTTGTTTTTTTT TTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTT		ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding					1444		chr8	TogoVar
EXD3_chr9_137301896_137428162	137323139	A A	ATCTGCCG others(101): Show ATCTGCCGACACCCCACCCCGGACCCACGAGGGGTGCTCTGCCGACACCC CACCCCGGACCCACGAGGGGTGCTCTGCCGACACCCCACCCCGGACCCAC GAGGGGTGC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02896.hp2 HG02922.hp2 HG02615.hp2 HG02896.hp2 HG02922.hp2	a0004 a0004	a0004c0007 a0004c0009 a0004c0007 a0004c0009	a0004c0007t0001 a0004c0009t0001 a0004c0007t0001 a0004c0009t0001	a0004c0007t0001g0002 a0004c0007t0001g0023 a0004c0009t0001g0065 a0004c0007t0001g0002 a0004c0007t0001g0023 a0004c0009t0001g0065	3	82	0.0366	108	c.218 others(125): Show c.2184+585_2184+586insGCACCCCTCGTGGGTCCGGGGTGGGGTG TCGGCAGAGCACCCCTCGTGGGTCCGGGGTGGGGTGTCGGCAGAGCACCC CTCGTGGGTCCGGGGTGGGGTGTCGGCAGA		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21						chr9	TogoVar
EXD3_chr9_137301896_137428162	137323197	A A	ACCCACGA others(101): Show ACCCACGAGGGGTGATCTGCCGACACCCCACCCCGGACCCACGAGGGGTG ATCTGCCGACACCCCACCCCGGACCCACGAGGGGTGCTCTGCCGACACCC CACCCCGGG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0024 a0024	a0024c0017 a0024c0017	a0024c0017t0001 a0024c0017t0001	a0024c0017t0001g0007 a0024c0017t0001g0007	1	82	0.0122	108	c.218 others(125): Show c.2184+527_2184+528insCCCGGGGTGGGGTGTCGGCAGAGCACCC CTCGTGGGTCCGGGGTGGGGTGTCGGCAGATCACCCCTCGTGGGTCCGGG GTGGGGTGTCGGCAGATCACCCCTCGTGGG		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21						chr9	TogoVar
EXD3_chr9_137301896_137428162	137323269	A A	ACCCACGA others(101): Show ACCCACGAGGGGTGCTCTGCCGACACCCCACCCCGGACCCACGAGGGGTG ATCTGCCGACACCCCACCCCGGACCCACGAGGGGTGATCTGCCGACACCC CACCCCGGG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	82	0.0122	108	c.218 others(125): Show c.2184+455_2184+456insCCCGGGGTGGGGTGTCGGCAGATCACCC CTCGTGGGTCCGGGGTGGGGTGTCGGCAGATCACCCCTCGTGGGTCCGGG GTGGGGTGTCGGCAGAGCACCCCTCGTGGG		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21						chr9	TogoVar
EXOC2_chr6_480154_698139	501140	A A	ATATATTA others(101): Show ATATATTATATATTATATATATCTATATACATATATATCTATATATTATA TATATCTATATATATTATATATATCTATATATTATATATATCTATATATT ATATATATC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18982.hp2 NA18747.hp2 NA18982.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0055 a0001c0002t0010g0248 a0001c0002t0010g0055 a0001c0002t0010g0248	2	272	0.0074	108	c.238 others(127): Show c.2381-1441_2381-1440insGATATATATAATATATAGATATATAT AATATATAGATATATATAATATATATAGATATATATAATATATAGATATA TATGTATATAGATATATATAATATATAATATA		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27						chr6	TogoVar
EXOC2_chr6_480154_698139	501566	A A	ATATATAT others(101): Show ATATATATATTATATATATCTATATATAATATATATATTATATATATCTA TATATAATATATATATTATATATATCTATATATAATATATATAATATATA GATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0217 a0001c0001t0003g0217	1	272	0.0037	108	c.238 others(127): Show c.2381-1867_2381-1866insATATATATCTATATATTATATATATT ATATATAGATATATATAATATATATATTATATATAGATATATATAATATA TATATTATATATAGATATATATAATATATATA		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27						chr6	TogoVar
EXOC2_chr6_480154_698139	501566	A A	ATATATAT others(101): Show ATATATATATTATATATATCTATATATATTATATATATTATATATATCTA TATATAATATATATATTATATATATCTATATATAATATATATAATATATA GATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02486.hp2 HG03195.hp2 HG01891.hp1 HG02486.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0022 a0001c0001 a0001c0011 a0001c0022	a0001c0001t0002 a0001c0011t0008 a0001c0022t0007 a0001c0001t0002 a0001c0011t0008 a0001c0022t0007	a0001c0001t0002g0201 a0001c0011t0008g0154 a0001c0022t0007g0163 a0001c0001t0002g0201 a0001c0011t0008g0154 a0001c0022t0007g0163	3	272	0.0110	108	c.238 others(127): Show c.2381-1867_2381-1866insATATATATCTATATATTATATATATT ATATATAGATATATATAATATATATATTATATATAGATATATATAATATA TATAATATATATAGATATATATAATATATATA		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27						chr6	TogoVar
EXOC2_chr6_480154_698139	501566	A A	ATATATAT others(101): Show ATATATATATTATATATATCTATATATATTATATATATTATATATATCTA TATATATTATATATATTATATATATCTATATATATTATATATAATATATA GATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00438.hp1 others(52): Show HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01070.hp1 HG01081.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02257.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp2 HG02895.hp1 HG03098.hp1 HG03098.hp2 HG03834.hp2 HG04199.hp2 NA18942.hp2 NA18947.hp2 NA18954.hp1 NA18957.hp1 NA18962.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18988.hp1 NA18998.hp1 NA19003.hp2 NA19004.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19057.hp1 NA19075.hp1 NA19075.hp2 NA19086.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0013 a0001c0021 a0003c0006 a0007c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0023 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0010 a0001c0002t0021 a0001c0003t0001 a0001c0004t0001 a0001c0004t0004 a0001c0013t0001 a0001c0021t0003 a0003c0006t0004 a0007c0012t0001	a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0026 others(52): Show a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0003g0137 a0001c0001t0003g0198 a0001c0001t0003g0257 a0001c0001t0004g0011 a0001c0001t0004g0140 a0001c0001t0005g0024 a0001c0001t0010g0144 a0001c0001t0023g0119 a0001c0002t0001g0008 a0001c0002t0001g0056 a0001c0002t0001g0065 a0001c0002t0001g0069 a0001c0002t0001g0114 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0139 a0001c0002t0001g0253 a0001c0002t0004g0009 a0001c0002t0004g0018 a0001c0002t0004g0070 a0001c0002t0004g0113 a0001c0002t0004g0250 a0001c0002t0005g0023 a0001c0002t0006g0132 a0001c0002t0010g0055 a0001c0002t0021g0037 a0001c0003t0001g0222 a0001c0004t0001g0003 a0001c0004t0004g0006 a0001c0013t0001g0127 a0001c0021t0003g0180 a0003c0006t0004g0236 a0003c0006t0004g0242 a0003c0006t0004g0243 a0003c0006t0004g0254 a0007c0012t0001g0094	55	272	0.2022	108	c.238 others(127): Show c.2381-1867_2381-1866insATATATATCTATATATTATATATAAT ATATATAGATATATATAATATATATAATATATATAGATATATATAATATA TATAATATATATAGATATATATAATATATATA		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27						chr6	TogoVar
EXOC2_chr6_480154_698139	501566	A A	ATATATAT others(101): Show ATATATATATTATATATATCTATATATATTATATATATTATATATATCTA TATATATTATATATATTATATATATCTATATATATTATATATATTATATA GATATATAT	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0099	1	272	0.0037	108	c.238 others(127): Show c.2381-1867_2381-1866insATATATATCTATATAATATATATAAT ATATATAGATATATATAATATATATAATATATATAGATATATATAATATA TATAATATATATAGATATATATAATATATATA		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27						chr6	TogoVar
EXOC4_chr7_133248078_134070761	133857124	A A	ATATATAT others(101): Show ATATATATATATATATACGTGTATGTGTATATATATATACACACGTATAT ATATATATACGTATATATATATATACGTATATATATATATGTATATATAT ATATATACG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0093 a0001c0003t0004g0093	1	102	0.0098	108	c.173 others(129): Show c.1735-38474_1735-38473insATATATATATATATACGTGTATGT GTATATATATATACACACGTATATATATATATACGTATATATATATATAC GTATATATATATATGTATATATATATATATACGT		EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17					INFO_REALIGN_3_PRIME	chr7	TogoVar
FAM107B_chr10_14513557_14779897	14737766	T T	TTCTCTCT others(101): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0013 a0001c0001t0009g0013	1	272	0.0037	108	c.411 others(127): Show c.411+36486_411+36487insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA		FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	1/4						chr10	TogoVar
FAM168A_chr11_73395487_73603112	73544994	G G	GTATATAT others(101): Show GTATATATAATTATATATTATATATAATATATATTATATATATTATATAT AATATATTATATATATAATATATTATATATATATTATATATAATATATAT AATATATTA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02896.hp2 HG02965.hp1 others(2): Show HG02717.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0027 a0001c0001t0004 a0001c0001t0027	a0001c0001t0004g0142 a0001c0001t0004g0147 a0001c0001t0004g0151 others(2): Show a0001c0001t0004g0142 a0001c0001t0004g0147 a0001c0001t0004g0151 a0001c0001t0004g0152 a0001c0001t0027g0146	5	180	0.0278	108	c.-19 others(127): Show c.-19+52928_-19+52929insTAATATATTATATATATTATATATAA TATATATATAATATATTATATATATAATATATTATATATAATATATATAA TATATATTATATATAATATATAATTATATATA		FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	1/7						chr11	TogoVar
FAM186A_chr12_50322309_50401609	50352003	G G	GCCTGCAC others(101): Show GCCTGCACCTGCTGAGGGGTGAGAGAGATCCCCAGAGCCTGGGCCTGCTG AGGGGTGAGAGGGATACCCAGGGCCTGGGCCTGCTGAGGGGTGAGAGGGA TCCCCAGTT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01257.hp1 HG01257.hp1	a0031 a0031	a0031c0041 a0031c0041	a0031c0041t0001 a0031c0041t0001	a0031c0041t0001g0299 a0031c0041t0001g0299	1	332	0.0030	108	c.482 others(117): Show c.4828_4829insAACTGGGGATCCCTCTCACCCCTCAGCAGGCCCAGG CCCTGGGTATCCCTCTCACCCCTCAGCAGGCCCAGGCTCTGGGGATCTCT CTCACCCCTCAGCAGGTGCAGG	p.Gln others(123): Show p.Gln1609_Ala1610insGluLeuGlyIleProLeuThrProGlnGln AlaGlnAlaLeuGlyIleProLeuThrProGlnGlnAlaGlnAlaLeuGl yIleSerLeuThrProGlnGlnValGln	FAM186A	ENSG00000185958.10	transcript	ENST00000327337.6	protein_coding	4/8	4953/7255	4828/7056	1610/2351			chr12	TogoVar
FAM186A_chr12_50322309_50401609	50352003	G G	GCCTGCGC others(101): Show GCCTGCGCCTGCTGAGGGGTGAGAGAGATCCCCAGAGCCTGGGCCTGCTG AGGGGTGAGAGGGATACCCAGGGCCTGGGCCTGCTGAGGGGTGAGAGGGA TCCCCAGTT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(210): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03927.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp2	a0001 a0002 a0006 others(14): Show a0001 a0002 a0006 a0007 a0009 a0010 a0013 a0014 a0015 a0016 a0017 a0024 a0025 a0026 a0027 a0028 a0030	a0001c0001 a0001c0039 a0001c0042 others(21): Show a0001c0001 a0001c0039 a0001c0042 a0002c0002 a0002c0006 a0002c0010 a0002c0011 a0002c0033 a0006c0007 a0007c0008 a0007c0023 a0009c0012 a0010c0019 a0013c0017 a0014c0018 a0015c0016 a0016c0022 a0017c0043 a0024c0036 a0025c0035 a0026c0034 a0027c0038 a0028c0024 a0030c0040	a0001c0001t0001 a0001c0039t0001 a0001c0042t0001 others(21): Show a0001c0001t0001 a0001c0039t0001 a0001c0042t0001 a0002c0002t0001 a0002c0006t0001 a0002c0010t0001 a0002c0011t0001 a0002c0033t0001 a0006c0007t0001 a0007c0008t0001 a0007c0023t0001 a0009c0012t0001 a0010c0019t0001 a0013c0017t0001 a0014c0018t0001 a0015c0016t0001 a0016c0022t0001 a0017c0043t0001 a0024c0036t0001 a0025c0035t0001 a0026c0034t0001 a0027c0038t0001 a0028c0024t0001 a0030c0040t0001	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0012 others(210): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0271 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0332 a0001c0039t0001g0064 a0001c0042t0001g0077 a0002c0002t0001g0009 a0002c0002t0001g0073 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0158 a0002c0002t0001g0165 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0191 a0002c0002t0001g0198 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0245 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0259 a0002c0002t0001g0319 a0002c0002t0001g0320 a0002c0002t0001g0325 a0002c0002t0001g0326 a0002c0002t0001g0327 a0002c0002t0001g0328 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0001g0331 a0002c0006t0001g0122 a0002c0006t0001g0151 a0002c0006t0001g0156 a0002c0006t0001g0157 a0002c0006t0001g0159 a0002c0006t0001g0160 a0002c0006t0001g0161 a0002c0006t0001g0162 a0002c0006t0001g0163 a0002c0006t0001g0177 a0002c0006t0001g0192 a0002c0010t0001g0140 a0002c0010t0001g0147 a0002c0010t0001g0197 a0002c0011t0001g0118 a0002c0011t0001g0119 a0002c0011t0001g0166 a0002c0033t0001g0321 a0006c0007t0001g0038 a0006c0007t0001g0150 a0006c0007t0001g0164 a0006c0007t0001g0193 a0006c0007t0001g0194 a0007c0008t0001g0088 a0007c0008t0001g0246 a0007c0008t0001g0247 a0007c0008t0001g0248 a0007c0023t0001g0054 a0009c0012t0001g0233 a0009c0012t0001g0234 a0009c0012t0001g0235 a0010c0019t0001g0322 a0010c0019t0001g0323 a0013c0017t0001g0003 a0013c0017t0001g0131 a0014c0018t0001g0011 a0014c0018t0001g0219 a0015c0016t0001g0004 a0015c0016t0001g0005 a0016c0022t0001g0171 a0017c0043t0001g0306 a0024c0036t0001g0188 a0025c0035t0001g0060 a0026c0034t0001g0136 a0027c0038t0001g0006 a0028c0024t0001g0244 a0030c0040t0001g0290	213	332	0.6416	108	c.482 others(117): Show c.4828_4829insAACTGGGGATCCCTCTCACCCCTCAGCAGGCCCAGG CCCTGGGTATCCCTCTCACCCCTCAGCAGGCCCAGGCTCTGGGGATCTCT CTCACCCCTCAGCAGGCGCAGG	p.Gln others(123): Show p.Gln1609_Ala1610insGluLeuGlyIleProLeuThrProGlnGln AlaGlnAlaLeuGlyIleProLeuThrProGlnGlnAlaGlnAlaLeuGl yIleSerLeuThrProGlnGlnAlaGln	FAM186A	ENSG00000185958.10	transcript	ENST00000327337.6	protein_coding	4/8	4953/7255	4828/7056	1610/2351			chr12	TogoVar
FANCA_chr16_89732549_89821647	89732751	T T	TGCCCTCG others(101): Show TGCCCTCGCCCTCTGCTGTGTTCACCCCGACCCTGCTGTACCCTGCGCCC TCATCCTCTGCTGTGCCCTCCCCCTCTGCTGTGTTCGCCCTGACCCTGCT GTACCCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0038 a0002c0038	a0002c0038t0001 a0002c0038t0001	a0002c0038t0001g0077 a0002c0038t0001g0077	1	334	0.0030	108	c.58 others(119): Show c.5849_*5850insGCAGGGTACAGCAGGGTCAGGGCGAACACAGCAG AGGGGGAGGGCACAGCAGAGGATGAGGGCGCAGGGTACAGCAGGGTCGGG GTGAACACAGCAGAGGGCGAGGGC		FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding					4797		chr16	TogoVar
FARS2_chr6_5256513_5776583	5539384	G G	GTGTGTAT others(101): Show GTGTGTATGTGTATATATATATATATATATATATATATATATATATATAT ATATATATGTATATGTATATATATATATATATGTATATATATATATATAT ATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	170	0.0059	108	c.905 others(125): Show c.905-5795_905-5794insGTGTATGTGTATATATATATATATATAT ATATATATATATATATATATATATATATGTATATGTATATATATATATAT ATGTATATATATATATATATATATATATAT		FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
FBN3_chr19_8060402_8154592	8130596	G G	GGAAAGGA others(101): Show GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA AGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0069 a0069	a0069c0166 a0069c0166	a0069c0166t0001 a0069c0166t0001	a0069c0166t0001g0367 a0069c0166t0001g0367	1	380	0.0026	108	c.204 others(125): Show c.2044+638_2044+639insTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTC		FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	16/63						chr19	TogoVar
FBRSL1_chr12_132485151_132590188	132563011	A A	ACCTGGCC others(101): Show ACCTGGCCCCCACAGCCTGCACCCCACGCCTGGCCCCCACAGCCTGCACC CCACGCCTGGCCCCCACAGCCTGCACCCCACGCCTGGCCCCCACAGCCTG CACCCCACG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA19005.hp1 NA18942.hp2 NA19005.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0020 a0001c0003t0004g0052 a0001c0003t0004g0020 a0001c0003t0004g0052	2	348	0.0058	108	c.646 others(125): Show c.646-4314_646-4207dupCCCCACGCCTGGCCCCCACAGCCTGCAC CCCACGCCTGGCCCCCACAGCCTGCACCCCACGCCTGGCCCCCACAGCCT GCACCCCACGCCTGGCCCCCACAGCCTGCA		FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr12	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)