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 (≤).

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⚠️ 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
CEL_chr9_133056981_133076861	133071218	CCCCACGG others(92): Show CCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGGTGACTCCG GGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03942.hp2 HG04199.hp1 HG03942.hp2 HG04199.hp1	a0054 a0056 a0054 a0056	a0054c0179 a0056c0180 a0054c0179 a0056c0180	a0054c0179t0001 a0056c0180t0001 a0054c0179t0001 a0056c0180t0001	a0054c0179t0001g0086 a0056c0180t0001g0087 a0054c0179t0001g0086 a0056c0180t0001g0087	2	416	0.0048	-99	c.173 others(108): Show c.1733_1831delAGACCGCCCCCGTGCCGCCCACGGGTGACTCCGGGG CCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCC ACGGGTGACTCCG	p.Glu others(13): Show p.Glu578_Ser610del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1755/2381	1733/2262	578/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071240	GCCCCCGT others(92): Show GCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCAC GGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01257.hp2 HG01258.hp1 HG02109.hp1 others(10): Show HG01257.hp2 HG01258.hp1 HG02109.hp1 HG02145.hp1 HG02486.hp2 NA18961.hp1 NA18970.hp1 NA18991.hp2 NA19070.hp1 NA19076.hp1 NA19077.hp1 NA19085.hp2 NA20805.hp2	a0014 a0015 a0037 others(1): Show a0014 a0015 a0037 a0038	a0014c0012 a0014c0027 a0015c0016 others(3): Show a0014c0012 a0014c0027 a0015c0016 a0015c0038 a0037c0130 a0038c0131	a0014c0012t0001 a0014c0027t0001 a0015c0016t0001 others(3): Show a0014c0012t0001 a0014c0027t0001 a0015c0016t0001 a0015c0038t0001 a0037c0130t0001 a0038c0131t0001	a0014c0012t0001g0004 a0014c0012t0001g0016 a0014c0027t0001g0004 others(8): Show a0014c0012t0001g0004 a0014c0012t0001g0016 a0014c0027t0001g0004 a0014c0027t0001g0073 a0015c0016t0001g0004 a0015c0016t0001g0010 a0015c0016t0001g0016 a0015c0038t0001g0015 a0015c0038t0001g0024 a0037c0130t0001g0004 a0038c0131t0001g0010	13	416	0.0313	-99	c.189 others(108): Show c.1899_1997delGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGC CCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCA CGGGTGACTCCGG	p.Ala others(13): Show p.Ala634_Gly666del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1921/2381	1899/2262	633/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071401	GGCCCCCC others(92): Show GGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGC CCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA20905.hp1 NA20905.hp1	a0049 a0049	a0049c0110 a0049c0110	a0049c0110t0001 a0049c0110t0001	a0049c0110t0001g0095 a0049c0110t0001g0095	1	416	0.0024	-99	c.192 others(108): Show c.1927_2025delTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCC GGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCC GCCCACGGGTGAC	p.Ser others(13): Show p.Ser643_Asp675del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1949/2381	1927/2262	643/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071435	GCCCCCCC others(92): Show GCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCC CACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACGCCGGGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp2 HG01070.hp1 HG01081.hp1 others(1): Show HG00140.hp2 HG01070.hp1 HG01081.hp1 HG02735.hp1	a0024 a0029 a0024 a0029	a0024c0166 a0024c0240 a0029c0018 a0024c0166 a0024c0240 a0029c0018	a0024c0166t0001 a0024c0240t0001 a0029c0018t0001 a0024c0166t0001 a0024c0240t0001 a0029c0018t0001	a0024c0166t0001g0001 a0024c0240t0001g0001 a0029c0018t0001g0001 a0024c0166t0001g0001 a0024c0240t0001g0001 a0029c0018t0001g0001	4	416	0.0096	-99	c.196 others(108): Show c.1965_2063delGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGC CCCCCCCGTGCCGCCCACGGGTGACGCCGGGCCCCCCCCCGTGCCGCCCA CGGGTGACTCCGG	p.Ala others(13): Show p.Ala656_Gly688del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1987/2381	1965/2262	655/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071467	GGCCCCCC others(92): Show GGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGC CCACGGGTGACGCCGGGCCCCCCCCCGTGCCGCCCACGGGTGACTCCGGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01069.hp2 HG01069.hp2	a0036 a0036	a0036c0207 a0036c0207	a0036c0207t0001 a0036c0207t0001	a0036c0207t0001g0062 a0036c0207t0001g0062	1	416	0.0024	-99	c.199 others(108): Show c.1998_2096delCGCCCCCCCCGTGCCGCCCACGGGTGACGCCGGGCC CCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCA CGGGTGACTCCGG	p.Ala others(13): Show p.Ala667_Gly699del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2020/2381	1998/2262	666/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP46_chr10_132803392_132947570	132888439	CCCTGCCA others(92): Show CCCTGCCACCTTCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCC GCCTGTACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGCA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0012 a0012	a0012c0073 a0012c0073	a0012c0073t0002 a0012c0073t0002	a0012c0073t0002g0005 a0012c0073t0002g0005	1	246	0.0041	-99	c.330 others(118): Show c.3305-2579_3305-2481delTGCAGGCGGCAGGGGTGAAGGTGGCA GGTGCAGGCGGCAGGGGTACAGGCGGCAGGGGTGAAGGTGGCAGGTGCAG GCGGCAGGGGTGAAGGTGGCAGG		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57						chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914358	GCCCGAGG others(92): Show GCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGC	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02027.hp1 HG02040.hp1 others(6): Show HG00621.hp2 HG02027.hp1 HG02040.hp1 HG02109.hp1 HG02559.hp1 HG03225.hp1 NA19090.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0023 a0044 a0062 a0071	a0001c0001 a0002c0003 a0005c0013 others(4): Show a0001c0001 a0002c0003 a0005c0013 a0023c0062 a0044c0055 a0062c0093 a0071c0098	a0001c0001t0002 a0002c0003t0001 a0005c0013t0001 others(4): Show a0001c0001t0002 a0002c0003t0001 a0005c0013t0001 a0023c0062t0001 a0044c0055t0001 a0062c0093t0001 a0071c0098t0002	a0001c0001t0002g0024 a0002c0003t0001g0134 a0002c0003t0001g0135 others(6): Show a0001c0001t0002g0024 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0138 a0005c0013t0001g0217 a0023c0062t0001g0210 a0044c0055t0001g0183 a0062c0093t0001g0121 a0071c0098t0002g0023	9	246	0.0366	-99	c.212 others(118): Show c.2121-1199_2121-1101delGCGGGGTGCAGTGTGGCTGGACACAG CCTCGGGGCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCA GTGTGGCTGGACACAGCCTCGGG		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57						chr10	TogoVar
CFAP61_chr20_20047532_20365698	20357374	GTGAGGGG others(92): Show GTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCACAGTGTGCGGGGAGGTGGTCATAC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0101 a0002c0002t0003g0101	1	236	0.0042	-99	c.351 others(118): Show c.3514-2798_3514-2700delGTGTGAGGGGAGGTGGTCACACTGAG GGGAGGTGGTCACAGTGTGCGGGGAGGTGGTCATACTGAGGGGAGGTGGT CACACTGAGGGGAGGTGGTCACA		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26					INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP74_chr1_1916957_2008786	1928109	AGGCAAAC others(92): Show AGGCAAACCCTTGGGAGGAAGCCAGGCCGGGAAGGGCAAACCCTTGGGAG GAAGCCAGGCCGGGAAGGGCAAACCCTTGGGAGGAAGCCAGGCCGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0001 a0011c0010t0001	a0011c0010t0001g0222 a0011c0010t0001g0222	1	278	0.0036	-99	c.338 others(116): Show c.3388-462_3388-364delCTTCCCGGCCTGGCTTCCTCCCAAGGGT TTGCCCTTCCCGGCCTGGCTTCCTCCCAAGGGTTTGCCCTTCCCGGCCTG GCTTCCTCCCAAGGGTTTGCC		CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	27/38						chr1	TogoVar
CHRFAM7A_chr15_30355566_30398540	30375877	GTGTTGAG others(92): Show GTGTTGAGTCGTGTGGGTGGTATGTGAGTGGTTGTGTGAGTGGTGTGTGT GTTGAGTCGTGTGGGTGGTATGTGAGTGGTTGTGTGAGTGGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0008 a0002c0009t0008	a0002c0009t0008g0101 a0002c0009t0008g0101	1	133	0.0075	-99	c.160 others(116): Show c.160+1054_160+1152delACACACACACCACTCACACAACCACTCA CATACCACCCACACGACTCAACACACACACCACTCACACAACCACTCACA TACCACCCACACGACTCAACA		CHRFAM7A	ENSG00000166664.15	transcript	ENST00000299847.7	protein_coding	5/9						chr15	TogoVar
CLUL1_chr18_591988_655182	596870	TCTGCAGG others(92): Show TCTGCAGGCCCCGCCCACCCGGCGTCACCTGCAGGCCCCGCCCACCCGGC GTCTGCAGGCCCCGCCCACCCGGCGTCACCTGCAGGCCCCGCCCACCCGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0346 a0001c0001t0005g0346	1	414	0.0024	-99	c.-39 others(108): Show c.-394_-296delCTGCAGGCCCCGCCCACCCGGCGTCACCTGCAGGCC CCGCCCACCCGGCGTCTGCAGGCCCCGCCCACCCGGCGTCACCTGCAGGC CCCGCCCACCCGG		CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding					117		chr18	TogoVar
CMKLR2_chr2_206170316_206218371	206172705	CGGGAGAG others(92): Show CGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGACGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGACGGGAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0097 a0002c0002t0001g0097	1	322	0.0031	-99	c.33 others(110): Show c.3376_*3474delTCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCGTCT CCCTCTCCCTCTCCC		CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding					2610		chr2	TogoVar
COL18A1_chr21_45400165_45518720	45500815	GGGTGTGT others(92): Show GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGTTTT	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0129 a0001c0001t0004g0129	1	292	0.0034	-99	c.268 others(118): Show c.2683+3162_2684-3090delAGTGTGGGGGTGTGGTTTGGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG TGTGGGGGTGTGTTTTGGTGTGT		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL4A1_chr13_110143963_110312157	110252788	AGTATGTA others(92): Show AGTATGTATTACATATACAGATAACTATAAGTACGTATGTATTACATATA CAGATAACTATAAGTACGTATGTATTACATATACAGATAACTATAAGTAC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0231 a0002c0015t0001g0231	1	344	0.0029	-99	c.85- others(116): Show c.85-10153_85-10055delGTACTTATAGTTATCTGTATATGTAATA CATACGTACTTATAGTTATCTGTATATGTAATACATACGTACTTATAGTT ATCTGTATATGTAATACATAC		COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51						chr13	TogoVar
CPSF2_chr14_92116969_92177145	92173330	TACGTATA others(92): Show TACGTATATATATATGTATATATATATACGTATATATATATGTATATATA TACGTATATATATATATACACATATGTATATATATATATGTGTATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18982.hp1 NA18989.hp1 NA18954.hp2 NA18982.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0057 a0001c0001t0072 a0001c0001t0032 a0001c0001t0057 a0001c0001t0072	a0001c0001t0032g0033 a0001c0001t0057g0004 a0001c0001t0072g0120 a0001c0001t0032g0033 a0001c0001t0057g0004 a0001c0001t0072g0120	3	388	0.0077	-99	c.11 others(112): Show c.11587_*11685delACGTATATATATATGTATATATATATACGTAT ATATATATGTATATATATACGTATATATATATATACACATATGTATATAT ATATATGTGTATATATA		CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding					1186		chr14	TogoVar
CPSF2_chr14_92116969_92177145	92173331	ACGTATAT others(92): Show ACGTATATATATATGTATATATATATACGTATATATATATGTATATATAT ACGTATATATATATATACACATATGTATATATATATATGTGTATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp2 NA19091.hp2 NA19064.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0059 a0001c0001t0020 a0001c0001t0059	a0001c0001t0020g0011 a0001c0001t0059g0011 a0001c0001t0020g0011 a0001c0001t0059g0011	2	388	0.0052	-99	c.11 others(112): Show c.11588_*11686delCGTATATATATATGTATATATATATACGTATA TATATATGTATATATATACGTATATATATATATACACATATGTATATATA TATATGTGTATATATAT		CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding					1187		chr14	TogoVar
CSF1R_chr5_150048295_150091554	150084368	AAAGAAAG others(92): Show AAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0006 a0006c0011t0006	a0006c0011t0006g0015 a0006c0011t0006g0015	1	406	0.0025	-99	c.49+ others(114): Show c.49+1912_49+2010delCCTTTCTTTCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTT CTTTCTTTCTTTCTTTCTT		CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20						chr5	TogoVar
CST9L_chr20_23559732_23573484	23560993	TTCCTTCC others(92): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTT CCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 NA19004.hp2 HG01256.hp1 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	2	392	0.0051	-99	c.38 others(110): Show c.3856_*3954delGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGG AAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAA GGAAGGAAGGAAGGA		CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding					3738		chr20	TogoVar
CST9L_chr20_23559732_23573484	23560995	CCTTCCTT others(92): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCC TTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG03490.hp1 NA18983.hp1 others(2): Show HG02886.hp1 HG03490.hp1 NA18983.hp1 NA18983.hp2 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	5	392	0.0128	-99	c.38 others(110): Show c.3854_*3952delAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAA GGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAGGAAGG AAGGAAGGAAGGAAG		CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding					3736		chr20	TogoVar
CST9L_chr20_23559732_23573484	23560999	CCTTCCTT others(92): Show CCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCT TTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 NA18950.hp1 NA18989.hp2 others(3): Show HG02809.hp1 NA18950.hp1 NA18989.hp2 NA19072.hp1 NA19080.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0016 a0002c0002t0001g0027 a0002c0002t0001g0001 a0002c0002t0001g0016 a0002c0002t0001g0027	6	392	0.0153	-99	c.38 others(110): Show c.3850_*3948delAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAA AGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAGG AAGGAAGGAAGGAAG		CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding					3732		chr20	TogoVar
CST9L_chr20_23559732_23573484	23561003	CCTTCCTT others(92): Show CCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCC TTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00738.hp2 others(17): Show HG00280.hp1 HG00423.hp2 HG00738.hp2 HG01496.hp1 HG02040.hp2 HG02273.hp1 HG02300.hp1 NA18946.hp1 NA18954.hp1 NA18954.hp2 NA18967.hp2 NA18998.hp2 NA19004.hp1 NA19057.hp2 NA19060.hp1 NA19065.hp2 NA19066.hp1 NA19080.hp2 NA19083.hp1 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0056 a0002c0002t0001g0001 a0002c0002t0001g0056	20	392	0.0510	-99	c.38 others(110): Show c.3846_*3944delAAAGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAA GGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGG AAGGAAGGAAGGAAG		CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding					3728		chr20	TogoVar
CST9L_chr20_23559732_23573484	23561007	CCTTCCTT others(92): Show CCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCT TTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCTTTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	392	0.0026	-99	c.38 others(110): Show c.3842_*3940delAAAGAAAGAAAGAAGGAAAGAAGGAAAGAAGGAA AGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAG AAGGAAGGAAGGAAG		CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding					3724		chr20	TogoVar
CUL4A_chr13_113204613_113272108	113232151	ACTGCTGC others(92): Show ACTGCTGCCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACC CGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03225.hp2 HG03579.hp1 HG02922.hp1 HG03225.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0346 a0001c0001t0005g0347 a0001c0001t0005g0352 a0001c0001t0005g0346 a0001c0001t0005g0347 a0001c0001t0005g0352	3	396	0.0076	-99	c.513 others(115): Show c.513-1021_513-923delTGCCACCACTACCCGCCCACCACCATTAC TGCTGCCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCCG CCCACCACCATTACTGCTGC		CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19					INFO_REALIGN_3_PRIME	chr13	TogoVar
DCXR_chr17_82030858_82042697	82040643	CGGGTGGA others(92): Show CGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGACTAACACGGTG AAACCCCGTCTCTACTAAAGGTACAAAAAATTAGCCGGGCGTGGTGGCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	-99	c.-30 others(110): Show c.-3060_-2962delCCGCCACCACGCCCGGCTAATTTTTTGTACCTTT AGTAGAGACGGGGTTTCACCGTGTTAGTCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCACCC		DCXR	ENSG00000169738.8	transcript	ENST00000306869.7	protein_coding					2947		chr17	TogoVar
DDX3Y_chrY_12899868_12925478	12903812	AATCAACG others(92): Show AATCAACGTCATTCAGTATGTAATTGTTTCATTGTTTCTTCATCACTATG CCAGGGTGCGTTAAGGGCCTAGGCCTAGGTCCCCTGGTAGGTGTGTTATC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	133	0.0075	-99	c.-11 others(110): Show c.-1124_-1026delATCAACGTCATTCAGTATGTAATTGTTTCATTGT TTCTTCATCACTATGCCAGGGTGCGTTAAGGGCCTAGGCCTAGGTCCCCT GGTAGGTGTGTTATC		DDX3Y	ENSG00000067048.17	transcript	ENST00000336079.8	protein_coding					1055		chrY	TogoVar
DGKD_chr2_233349494_233477098	233397135	ACCAGAGG others(92): Show ACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGTGAGAGGACTCC AGAGGGGACCAGGGTGGCTGGGGGGGGGGGGGTGCCAGAGTGAGAGGACT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0044 a0001c0004t0044	a0001c0004t0044g0166 a0001c0004t0044g0166	1	336	0.0030	-99	c.348 others(116): Show c.348+6675_348+6773delCGGGGGGGGCCAGAGTGAGAGGACTCCA GAGGGGACCAGGGTGGCTGGGGGGGGGGGGGTGCCAGAGTGAGAGGACTC CAGAGGGGACCAGGGTGGCTG		DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29					INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRSX_chrX_2214506_2505976	2382710	ATCATCAC others(92): Show ATCATCACCACCATCATCACCATCATCATCGCCATCATCATCACTATCAT CATCATCATCATCACCATCACCATCATCACCATCATCATCACCATCACCG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02074.hp1 HG02630.hp2 others(5): Show HG01261.hp1 HG02074.hp1 HG02630.hp2 HG02717.hp1 HG02886.hp1 HG02886.hp2 NA18966.hp1 NA18971.hp1	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0006 a0007 a0010	a0001c0001 a0001c0012 a0004c0004 others(4): Show a0001c0001 a0001c0012 a0004c0004 a0005c0006 a0006c0013 a0007c0009 a0010c0015	a0001c0001t0001 a0001c0012t0010 a0004c0004t0005 others(4): Show a0001c0001t0001 a0001c0012t0010 a0004c0004t0005 a0005c0006t0004 a0006c0013t0015 a0007c0009t0013 a0010c0015t0007	a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0012t0010g0015 others(5): Show a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0012t0010g0015 a0004c0004t0005g0009 a0005c0006t0004g0034 a0006c0013t0015g0011 a0007c0009t0013g0005 a0010c0015t0007g0036	8	50	0.1600	-99	c.286 others(118): Show c.286+25936_286+26034delCGGTGATGGTGATGATGATGGTGATG ATGGTGATGGTGATGATGATGATGATGATAGTGATGATGATGGCGATGAT GATGGTGATGATGGTGGTGATGA		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6						chrX	TogoVar
DLG1_chr3_197037560_197303612	197132757	CATACTGC others(92): Show CATACTGCTGAAATACACATTAAATAGCTGTGGCATACTGCTGAAATACA CATTAAATAGCTGTGGCATACTGCTGAAATACACATTAAATAGCTGTGGT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00733.hp2 others(59): Show HG00423.hp1 HG00609.hp1 HG00733.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01168.hp2 HG01952.hp2 HG01975.hp1 HG02004.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02559.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02723.hp1 HG02809.hp1 HG02897.hp1 HG03225.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp2 HG03710.hp1 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 NA18522.hp1 NA18906.hp2 NA18952.hp1 NA18953.hp2 NA18965.hp2 NA18968.hp1 NA18970.hp2 NA18977.hp1 NA18988.hp2 NA18990.hp1 NA18995.hp1 NA18998.hp1 NA19009.hp1 NA19054.hp2 NA19064.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0002c0002 a0005c0008 others(1): Show a0001c0001 a0002c0002 a0005c0008 a0007c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0002c0002t0003 a0002c0002t0004 a0002c0002t0013 a0005c0008t0003 a0007c0009t0003	a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0242 others(59): Show a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0242 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0243 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0292 a0001c0001t0004g0294 a0001c0001t0004g0317 a0001c0001t0008g0244 a0001c0001t0008g0245 a0002c0002t0003g0003 a0002c0002t0003g0226 a0002c0002t0003g0295 a0002c0002t0003g0296 a0002c0002t0003g0297 a0002c0002t0003g0298 a0002c0002t0003g0299 a0002c0002t0003g0300 a0002c0002t0003g0301 a0002c0002t0003g0302 a0002c0002t0003g0303 a0002c0002t0003g0308 a0002c0002t0003g0309 a0002c0002t0003g0310 a0002c0002t0003g0311 a0002c0002t0003g0312 a0002c0002t0003g0313 a0002c0002t0003g0314 a0002c0002t0003g0315 a0002c0002t0003g0316 a0002c0002t0003g0318 a0002c0002t0003g0319 a0002c0002t0003g0320 a0002c0002t0003g0321 a0002c0002t0003g0322 a0002c0002t0003g0325 a0002c0002t0003g0326 a0002c0002t0003g0327 a0002c0002t0003g0328 a0002c0002t0003g0329 a0002c0002t0003g0330 a0002c0002t0004g0323 a0002c0002t0004g0324 a0002c0002t0013g0306 a0005c0008t0003g0304 a0005c0008t0003g0305 a0007c0009t0003g0307	62	332	0.1868	-99	c.102 others(118): Show c.1021-2185_1021-2087delACCACAGCTATTTAATGTGTATTTCA GCAGTATGCCACAGCTATTTAATGTGTATTTCAGCAGTATGCCACAGCTA TTTAATGTGTATTTCAGCAGTAT		DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	10/24						chr3	TogoVar
DLGAP2_chr8_732628_1713476	1014054	CTGTGTGT others(92): Show CTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGCGTGAGACCAGGAC AGACGATGCCTCCATTGTGTGTATGACCAGGACAGACGACGCCTCCACTG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0028 a0002c0001t0005g0028	1	40	0.0250	-99	c.73+ others(118): Show c.73+106097_73+106195delTGACCAGGACAGACGATGCCTCCACT GCGTGAGACCAGGACAGACGATGCCTCCATTGTGTGTATGACCAGGACAG ACGACGCCTCCACTGTGTGTGTG		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1015108	CTGTGTGA others(92): Show CTGTGTGAGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGAC AGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0003 a0001c0003t0024g0003	1	40	0.0250	-99	c.73+ others(118): Show c.73+107149_73+107247delAGACCAGGACAGACGATGCCTCCACT GTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGAC AGACGACGCCTCCACTGTGTGTG		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1568248	ATGGCCCC others(92): Show ATGGCCCCCGTGCCACTGTCCACTCAGCAGACACAAATCCGTCTTTGCCT GTGGCCTCCATGCCACTGTCCACTCAGCAGACACAAATCCACTCTGCCCG	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01361.hp1 HG01496.hp1 others(22): Show HG01071.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG02071.hp1 HG02074.hp1 HG02258.hp1 HG02258.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03710.hp1 NA18906.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0003 a0001c0009 others(6): Show a0001c0002 a0001c0003 a0001c0009 a0002c0001 a0002c0004 a0002c0006 a0002c0007 a0003c0005 a0004c0008	a0001c0002t0002 a0001c0003t0001 a0001c0003t0006 others(18): Show a0001c0002t0002 a0001c0003t0001 a0001c0003t0006 a0001c0003t0017 a0001c0009t0012 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0007 a0002c0001t0011 a0002c0001t0019 a0002c0001t0020 a0002c0004t0003 a0002c0004t0018 a0002c0004t0026 a0002c0006t0021 a0002c0007t0008 a0003c0005t0002 a0003c0005t0004 a0004c0008t0016	a0001c0002t0002g0021 a0001c0003t0001g0026 a0001c0003t0001g0027 others(22): Show a0001c0002t0002g0021 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0006g0033 a0001c0003t0017g0004 a0001c0009t0012g0006 a0002c0001t0001g0018 a0002c0001t0002g0013 a0002c0001t0002g0032 a0002c0001t0003g0017 a0002c0001t0003g0022 a0002c0001t0005g0028 a0002c0001t0005g0035 a0002c0001t0007g0038 a0002c0001t0011g0001 a0002c0001t0019g0030 a0002c0001t0020g0024 a0002c0004t0003g0009 a0002c0004t0018g0010 a0002c0004t0026g0016 a0002c0006t0021g0014 a0002c0007t0008g0040 a0003c0005t0002g0031 a0003c0005t0004g0037 a0004c0008t0016g0029	25	40	0.6250	-99	c.144 others(118): Show c.1442+2363_1442+2461delGTGCCACTGTCCACTCAGCAGACACA AATCCGTCTTTGCCTGTGGCCTCCATGCCACTGTCCACTCAGCAGACACA AATCCACTCTGCCCGTGGCCCCC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1568849	CCCATGCC others(92): Show CCCATGCCACTGTCCACTCAGCAGACACAAATCCATCTCTGCCTGCGGCC CCCATGCCACTGCCCACTCAGCAGACACAAATCCACTCTGCCCGTGGCCT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0021 a0002c0006t0021	a0002c0006t0021g0014 a0002c0006t0021g0014	1	40	0.0250	-99	c.144 others(118): Show c.1442+3000_1442+3098delCGGCCCCCATGCCACTGCCCACTCAG CAGACACAAATCCACTCTGCCCGTGGCCTCCATGCCACTGTCCACTCAGC AGACACAAATCCATCTCTGCCTG		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH9_chr17_11593470_11974748	11694781	TTTCTTTC others(92): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0016 a0016	a0016c0011 a0016c0011	a0016c0011t0001 a0016c0011t0001	a0016c0011t0001g0073 a0016c0011t0001g0073	1	178	0.0056	-99	c.487 others(116): Show c.4872+337_4872+435delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCTTTCTTTCTT		DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	22/68					INFO_REALIGN_3_PRIME	chr17	TogoVar
DYNC1H1_chr14_101959573_102061443	102046418	AAGCCAGG others(92): Show AAGCCAGGCGAGCTGGGCGGGTCTGGAGGGAAAGCCAAAGCCAGGCGAGC TGGGCGGGTCTGGAGGGAAAGCCAGGCGAGCTGGGCGGGTCTGGAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02809.hp2 HG01175.hp1 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0011 a0001c0002t0001 a0001c0002t0011	a0001c0002t0001g0113 a0001c0002t0011g0135 a0001c0002t0001g0113 a0001c0002t0011g0135	2	280	0.0071	-99	c.130 others(120): Show c.13007-1371_13007-1273delGGAAAGCCAAAGCCAGGCGAGCTG GGCGGGTCTGGAGGGAAAGCCAGGCGAGCTGGGCGGGTCTGGAGGGAGAG CCAGGCGAGCTGGGCGGGTCTGGAG		DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77					INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNLT2B_chr3_196286219_196323240	196317371	TGTGTGTG others(92): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAAAGTTAGTGATCTCACAA ACCTAGCTGAGTACCCTCTGCTCTGGCCCGTGAGCCTGATATTTTTTTCA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02970.hp2 HG02258.hp1 HG02258.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0149 a0001c0001t0001g0017 a0001c0001t0001g0149	3	330	0.0091	-99	c.113 others(114): Show c.113+570_113+668delTGAAAAAAATATCAGGCTCACGGGCCAGAG CAGAGGGTACTCAGCTAGGTTTGTGAGATCACTAACTTTACACACACACA CACACACACACACACACAC		DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4						chr3	TogoVar
EVA1C_chr21_32407706_32520387	32477717	TCACCTCC others(92): Show TCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCCCCTC CCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTA	T T	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	346	0.0029	-99	c.634 others(116): Show c.634+9871_634+9969delACCTCCCCCGTACGCCCTCCCCTCCCCT CCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCC CTCCCCTCCCCTCCCCCGTAC		EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr21	TogoVar
FAF1_chr1_50432028_50965267	50931903	TAATAATA others(92): Show TAATAATAATAATAATAATAATAATAGCACATGAAAGACTGACTCCCATG ATTCAATTACCTCCCCCCAGGTCCCTCCCACAACATGTGGCAATTCTGGG	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01257.hp1 HG01258.hp2 others(2): Show HG01081.hp1 HG01257.hp1 HG01258.hp2 HG01517.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0016 a0001c0001t0003 a0001c0001t0011 a0001c0001t0016	a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0032 others(2): Show a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0011g0030 a0001c0001t0016g0006	5	190	0.0263	-99	c.45+ others(116): Show c.45+27765_45+27863delCCCAGAATTGCCACATGTTGTGGGAGGG ACCTGGGGGGAGGTAATTGAATCATGGGAGTCAGTCTTTCATGTGCTATT ATTATTATTATTATTATTATT		FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	1/18						chr1	TogoVar
FAM171A1_chr10_15206643_15376289	15229816	CCATCACC others(92): Show CCATCACCATCATCATCATCACCACCATCACCATCATCACCATCACCCCC ATCACCATCATCACCATCACCACCATCACCATCATCACCATCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02818.hp1 HG03209.hp2 others(1): Show HG02572.hp2 HG02818.hp1 HG03209.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0134 a0001c0001t0003g0248 a0001c0001t0003g0285 others(1): Show a0001c0001t0001g0134 a0001c0001t0003g0248 a0001c0001t0003g0285 a0001c0001t0006g0268	4	303	0.0132	-99	c.755 others(116): Show c.755-8855_755-8757delATGGTGGTGATGGTGATGATGGTGATGG TGGTGATGGTGATGATGGTGATGGGGGTGATGGTGATGATGGTGATGGTG GTGATGATGATGATGGTGATG		FAM171A1	ENSG00000148468.17	transcript	ENST00000378116.9	protein_coding	5/7						chr10	TogoVar
FAM174B_chr15_92612448_92660775	92631162	ATATAATA others(92): Show ATATAATAATTTATATATTATATTATATATTATATATATTACATATATTA TATATTATATTATATATAATATATTATATATTATATTATATATAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0185 a0001c0001t0021g0185	1	394	0.0025	-99	c.345 others(114): Show c.345-916_345-818delATATATTATATATAATATAATATATAATAT ATTATATATAATATAATATATAATATATGTAATATATATAATATATAATA TAATATATAAATTATTATA		FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2						chr15	TogoVar
FAM174B_chr15_92612448_92660775	92631217	TATATTAT others(92): Show TATATTATATATAATATATTATATATTATATTATATATAATATATTATAT ATTATATTATATATAATATATTATATATTATATATAATATATTATATATA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0030 a0001c0001t0064g0030	1	394	0.0025	-99	c.345 others(114): Show c.345-971_345-873delTATATATAATATATTATATATAATATATAA TATATTATATATAATATAATATATAATATATTATATATAATATAATATAT AATATATTATATATAATAT		FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2						chr15	TogoVar
FAM3A_chrX_154501171_154521232	154519775	TGGGCATA others(92): Show TGGGCATAGTGAATCACGCCTGTAATCCTAGGACTTTGGGAGGCTGAGGT GGGCATAGTGAATCACGCCTGTAATCCTAGGACTTTGGGAGGCTGAGGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	339	0.0030	-99	c.-41 others(110): Show c.-4102_-4004delCACCTCAGCCTCCCAAAGTCCTAGGATTACAGGC GTGATTCACTATGCCCACCTCAGCCTCCCAAAGTCCTAGGATTACAGGCG TGATTCACTATGCCC		FAM3A	ENSG00000071889.17	transcript	ENST00000447601.7	protein_coding					3544		chrX	TogoVar
FAM78B_chr1_166064299_166172001	166077874	TTATATAT others(92): Show TTATATATATAATAAATATATATAATTTATATATATAATTATATATATAA TAAATATATAATAATATATATAATTTATATATATAATTATATATATAATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG01891.hp2 others(26): Show HG01243.hp1 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02257.hp2 HG02451.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03225.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017	a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 others(26): Show a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0176 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0008g0004 a0001c0001t0008g0005 a0001c0001t0008g0006 a0001c0001t0013g0033 a0001c0001t0014g0031 a0001c0001t0017g0141	29	318	0.0912	-99	c.264 others(116): Show c.264-7210_264-7112delTATTATATATATAATTATATATATAAAT TATATATATTATTATATATTTATTATATATATAATTATATATATAAATTA TATATATTTATTATATATATA		FAM78B	ENSG00000188859.7	transcript	ENST00000354422.4	protein_coding	1/1						chr1	TogoVar
FBXL5_chr4_15599381_15660357	15632811	ATGATGGG others(92): Show ATGATGGGGTTTTCCAAATATACAATCATGTCATCTGCAATCAGAGACAA TCTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCTTTCTCCTGCC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0063 a0001c0004t0003g0063	1	416	0.0024	-99	c.767 others(116): Show c.767-2119_767-2021delGGCAGGAGAAAGAAATAAAGGGTATTCA ATTAGGAAAAGAGGAAGTCAGATTGTCTCTGATTGCAGATGACATGATTG TATATTTGGAAAACCCCATCA		FBXL5	ENSG00000118564.15	transcript	ENST00000341285.8	protein_coding	5/10						chr4	TogoVar
FMN1_chr15_32760544_33199714	32777935	TATATATT others(92): Show TATATATTATGTATAATATATAATACATTTATTATATATTATGTATAATA TATAATACATTTATTATATATTATGTATAATATATAATACATTTATTATA	T T	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0102 a0003c0007t0001g0102	1	196	0.0051	-99	c.413 others(118): Show c.4131-1115_4131-1017delTATAATAAATGTATTATATATTATAC ATAATATATAATAAATGTATTATATATTATACATAATATATAATAAATGT ATTATATATTATACATAATATAT		FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	19/20						chr15	TogoVar
FMN2_chr1_240086883_240480187	240207788	TCCCGGAG others(92): Show TCCCGGAGCGGGCATACCCCCTCCGCCCCCACTTCCCGGAGCGGGCATAC CCCCTCCTCCCCCTCTTCCCGGAGCGGGCATACCTCCTCCACCCCCTCTA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02723.hp2 HG02723.hp2	a0092 a0092	a0092c0028 a0092c0028	a0092c0028t0001 a0092c0028t0001	a0092c0028t0001g0145 a0092c0028t0001g0145	1	174	0.0058	-99	c.303 others(108): Show c.3033_3131delTCCCCCTCTTCCCGGAGCGGGCATACCTCCTCCACC CCCTCTACCCGGAGCGGGCATACCCCCTCCGCCCCCACTTCCCGGAGCGG GCATACCCCCTCC	p.Pro others(15): Show p.Pro1012_Pro1044del	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3260/6429	3033/5169	1011/1722		INFO_REALIGN_3_PRIME	chr1	TogoVar
FOXK2_chr17_82514732_82609602	82593047	TACCGGGC others(92): Show TACCGGGCACAGGCTCTTATTCTGAAAGACCCAGTGAAGGTCTCCCTGCG CCGGGCACAGGCTCTTATTCTGAAAGCAGACCCCGTGAAGGTCTCCCTGC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	308	0.0033	-99	c.178 others(118): Show c.1786+5803_1786+5901delACCCAGTGAAGGTCTCCCTGCGCCGG GCACAGGCTCTTATTCTGAAAGCAGACCCCGTGAAGGTCTCCCTGCACCG GGCACAGGCTCTTATTCTGAAAG		FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXN3_chr14_89151177_89422233	89361507	ACTACCAC others(92): Show ACTACCACCTCCACCACCACCTCCACCACCACCACCTCCAGCACCACCTC CACCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACTACCT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0110 a0001c0002t0010g0110	1	230	0.0044	-99	c.544 others(118): Show c.544-10798_544-10700delAGGTAGTGCTGGAGGTGGTAGTGGTG GAGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTGGTGGT GGAGGTGGTGGTGGAGGTGGTAG		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361817	CCTCCACC others(92): Show CCTCCACCACCACCTCCACCACTACCACCTCCAGCACTACCTCCACCACC ACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAG	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0005 a0001c0001t0020g0005	1	230	0.0044	-99	c.544 others(118): Show c.544-11108_544-11010delCTGGAGGTGGTAGTGGTGGAGGTGGT GGTGGAGGTGGTGCTGGAGGTGGTGGTGGTGGAGGTAGTGCTGGAGGTGG TAGTGGTGGAGGTGGTGGTGGAG		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362263	ACCTCCTC others(92): Show ACCTCCTCCTCCTCCACCACCACCACCTCCACCACCACCACCACCACCTC CAGCACCACCTCTACCACCACCACCTCCAGCACCACCACCACCTCCTCCT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	230	0.0044	-99	c.544 others(118): Show c.544-11554_544-11456delAGGAGGAGGTGGTGGTGGTGCTGGAG GTGGTGGTGGTAGAGGTGGTGCTGGAGGTGGTGGTGGTGGTGGTGGAGGT GGTGGTGGTGGAGGAGGAGGAGG		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FREM1_chr9_14732152_14915428	14850336	TCCTGAGT others(92): Show TCCTGAGTCCGTGTTATTAATTAAAATTAAGGATTCCCATAAAAAGCTCT CACAAAAAAAAAGAATAAAAGAATTTATTAATAAAAGAATTGTGTGCTCA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03834.hp2 NA19030.hp2 others(1): Show HG03516.hp2 HG03834.hp2 NA19030.hp2 NA20300.hp2	a0001 a0003 a0016 others(1): Show a0001 a0003 a0016 a0049	a0001c0011 a0003c0069 a0016c0094 others(1): Show a0001c0011 a0003c0069 a0016c0094 a0049c0096	a0001c0011t0004 a0003c0069t0004 a0016c0094t0004 others(1): Show a0001c0011t0004 a0003c0069t0004 a0016c0094t0004 a0049c0096t0004	a0001c0011t0004g0032 a0003c0069t0004g0175 a0016c0094t0004g0203 others(1): Show a0001c0011t0004g0032 a0003c0069t0004g0175 a0016c0094t0004g0203 a0049c0096t0004g0169	4	346	0.0116	-99	c.115 others(116): Show c.1152+849_1152+947delTGAGCACACAATTCTTTTATTAATAAAT TCTTTTATTCTTTTTTTTTGTGAGAGCTTTTTATGGGAATCCTTAATTTT AATTAATAACACGGACTCAGG		FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	6/36						chr9	TogoVar

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