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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GRM7_chr3_6856115_7746533	7607258	AAATAAGC others(25): Show AAATAAGCATTGTAGTGGTTCTGTTTCAGTTTC	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG03098.hp1 others(3): Show HG02896.hp1 HG02897.hp2 HG03098.hp1 HG03471.hp1 HG03486.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0005 a0001c0001t0006 a0001c0002t0002 others(2): Show a0001c0001t0005 a0001c0001t0006 a0001c0002t0002 a0001c0002t0006 a0001c0008t0002	a0001c0001t0005g0072 a0001c0001t0006g0010 a0001c0002t0002g0023 others(3): Show a0001c0001t0005g0072 a0001c0001t0006g0010 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0006g0014 a0001c0008t0002g0020	6	80	0.0750	-32	c.245 others(53): Show c.2451+27934_2451+27965delAATAAGCATTGTAGTGGTTCTGTT TCAGTTTC	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRPEL1_chr4_7053895_7073064	7069127	CTGCCCTC others(25): Show CTGCCCTCCCCGGGATCCCAGGGCTCGATCCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 NA18747.hp2 NA18981.hp2 others(1): Show HG00609.hp1 NA18747.hp2 NA18981.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	4	418	0.0096	-32	c.-11 others(43): Show c.-1127_-1096delCAGGATCGAGCCCTGGGATCCCGGGGAGGGCA	GRPEL1	ENSG00000109519.14	transcript	ENST00000264954.5	protein_coding		1064		chr4	TogoVar
GRTP1_chr13_113319163_113369130	113346786	CAAAGAGC others(25): Show CAAAGAGCAGACCCGGGAGGACCTCTGTGGACA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03927.hp2 HG01261.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0108 a0001c0001t0001g0095 a0001c0001t0001g0108	2	288	0.0069	-32	c.466 others(49): Show c.466-1859_466-1828delTGTCCACAGAGGTCCTCCCGGGTCTGCT CTTT	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRXCR1_chr4_42887713_43035658	42932599	TATATATA others(25): Show TATATATATATATATATATATAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03139.hp1 HG01167.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0001 a0001c0001t0002g0002	2	338	0.0059	-32	c.385 others(51): Show c.385-30291_385-30260delTATATATATATATATATATAGAGAGA GAGAGA	GRXCR1	ENSG00000215203.3	transcript	ENST00000399770.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
GSG1L2_chr17_9795608_9827079	9816445	CGTGTGTC others(25): Show CGTGTGTCTGTGTGTGCGTCCGTGTGCGTGTCT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18522.hp1 HG02257.hp2 NA18522.hp1	a0001 a0009 a0001 a0009	a0001c0003 a0009c0013 a0001c0003 a0009c0013	a0001c0003t0002 a0009c0013t0018 a0001c0003t0002 a0009c0013t0018	a0001c0003t0002g0131 a0009c0013t0018g0132 a0001c0003t0002g0131 a0009c0013t0018g0132	2	474	0.0042	-32	c.310 others(49): Show c.310+5285_310+5316delAGACACGCACACGGACGCACACACAGAC ACAC	GSG1L2	ENSG00000214978.8	transcript	ENST00000399363.5	protein_coding	1/4			chr17	TogoVar
GSG1L_chr16_27782528_28068714	27805590	GGGGGTGG others(25): Show GGGGGTGGGGGGAGGGCTGTGGGCACTGGGATT	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03540.hp2 HG02895.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0032 a0001c0002t0004 a0001c0002t0032	a0001c0002t0004g0172 a0001c0002t0032g0229 a0001c0002t0004g0172 a0001c0002t0032g0229	2	240	0.0083	-32	c.898 others(49): Show c.898+1865_898+1896delAATCCCAGTGCCCACAGCCCTCCCCCCA CCCC	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	6/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27865550	TATATATA others(25): Show TATATATATATATATATATATATACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19043.hp1 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0023 a0001c0001t0010g0024 a0001c0001t0001g0023 a0001c0001t0010g0024	2	240	0.0083	-32	c.550 others(51): Show c.550+18904_550+18935delGTGTGTGTGTATATATATATATATAT ATATAT	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	3/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27888482	CCTTTCTT others(25): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0184	1	240	0.0042	-32	c.398 others(49): Show c.398-3876_398-3845delAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27947540	GGAAAGAA others(25): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0189 a0001c0002t0002g0189	1	240	0.0042	-32	c.397 others(51): Show c.397+15584_397+15615delTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6			chr16	TogoVar
GSN_chr9_121263162_121337842	121334772	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00621.hp1 others(49): Show HG00438.hp2 HG00597.hp1 HG00621.hp1 HG01081.hp1 HG01106.hp1 HG01123.hp2 HG01168.hp2 HG01346.hp2 HG01433.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01981.hp2 HG01993.hp1 HG02071.hp2 HG02083.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02572.hp1 HG02647.hp2 HG02818.hp2 HG02896.hp1 HG03490.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03831.hp2 HG03834.hp2 NA18612.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp2 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18952.hp2 NA18955.hp1 NA18957.hp2 NA18964.hp2 NA18969.hp2 NA18979.hp1 NA18985.hp2 NA18986.hp2 NA18990.hp2 NA18997.hp2 NA19003.hp1 NA19004.hp1 NA19010.hp1 NA19058.hp1 NA19083.hp1 NA19084.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0004 a0002c0002 a0002c0014 others(1): Show a0001c0004 a0002c0002 a0002c0014 a0006c0009	a0001c0004t0002 a0002c0002t0002 a0002c0002t0004 others(3): Show a0001c0004t0002 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0014t0002 a0006c0009t0004	a0001c0004t0002g0044 a0001c0004t0002g0045 a0001c0004t0002g0123 others(39): Show a0001c0004t0002g0044 a0001c0004t0002g0045 a0001c0004t0002g0123 a0001c0004t0002g0140 a0001c0004t0002g0156 a0001c0004t0002g0172 a0001c0004t0002g0175 a0001c0004t0002g0247 a0002c0002t0002g0002 a0002c0002t0002g0007 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0077 a0002c0002t0002g0255 a0002c0002t0004g0054 a0002c0002t0004g0055 a0002c0002t0007g0076 a0002c0014t0002g0048 a0006c0009t0004g0037 a0006c0009t0004g0241	52	322	0.1615	-32	c.21 others(43): Show c.2170_*2201delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	GSN	ENSG00000148180.22	transcript	ENST00000432226.7	protein_coding		1931		chr9	TogoVar
GSTA1_chr6_52786371_52808816	52796469	ATATATAT others(25): Show ATATATATATATATATATATATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG01255.hp1 others(44): Show HG00597.hp2 HG00621.hp1 HG01255.hp1 HG01891.hp2 HG02015.hp1 HG02071.hp1 HG02258.hp1 HG02451.hp2 HG02622.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG03139.hp1 HG03195.hp1 HG03486.hp2 HG06807.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18954.hp1 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp2 NA18973.hp1 NA18975.hp2 NA18985.hp1 NA18988.hp1 NA18991.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp2 NA19062.hp2 NA19063.hp2 NA19066.hp2 NA19083.hp2 NA19085.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0022 others(14): Show a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0005g0062 a0001c0001t0005g0201 a0001c0001t0005g0203 a0001c0001t0005g0208	47	436	0.1078	-32	c.140 others(47): Show c.140-187_140-156delCACACACACACATATATATATATATATATA TA	GSTA1	ENSG00000243955.6	transcript	ENST00000334575.6	protein_coding	3/6			chr6	TogoVar
GSTCD_chr4_105703784_105852725	105794823	TTATCTAT others(25): Show TTATCTATCTATCTATTTATCTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG06807.hp2 HG03225.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0026 a0001c0001t0002 a0001c0002t0026	a0001c0001t0002g0065 a0001c0002t0026g0090 a0001c0001t0002g0065 a0001c0002t0026g0090	2	186	0.0108	-32	c.124 others(53): Show c.1241-28115_1241-28084delTTATCTATCTATCTATCTATCTAT CTATCTAT	GSTCD	ENSG00000138780.15	transcript	ENST00000515279.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GSTM4_chr1_109651099_109666700	109654081	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02572.hp2 HG02027.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0026 a0001c0001t0002g0003 a0001c0001t0001g0026 a0001c0001t0002g0003	2	364	0.0055	-32	c.-23 others(43): Show c.-2308_-2277delAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAG	GSTM4	ENSG00000168765.19	transcript	ENST00000369836.9	protein_coding		2017		chr1	TogoVar
GSTO2_chr10_104264184_104309950	104306044	TGTGTGTG others(25): Show TGTGTGTGTGTGCGCGCGCGCGCGCGCGTGCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01346.hp1 HG01515.hp2 others(1): Show HG01255.hp2 HG01346.hp1 HG01515.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0093 a0001c0002t0002g0100 others(1): Show a0001c0002t0002g0006 a0001c0002t0002g0093 a0001c0002t0002g0100 a0001c0002t0002g0101	4	300	0.0133	-32	c.67 others(43): Show c.6761_*6792delGTGTGTGTGTGCGCGCGCGCGCGCGCGTGCGC	GSTO2	ENSG00000065621.15	transcript	ENST00000338595.7	protein_coding		1095		chr10	TogoVar
GTF2H2C_chr5_69555191_69600221	69587386	TTTGGGAG others(25): Show TTTGGGAGACCGAGGCAGGTGGGTCACCTGAGG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp1 others(116): Show HG00099.hp1 HG00099.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02040.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18954.hp1 NA18954.hp2 NA18967.hp2 NA18979.hp1 NA18988.hp1 NA18992.hp2 NA19006.hp1 NA19009.hp2 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0004 others(3): Show a0001c0001 a0001c0002 a0002c0004 a0002c0009 a0003c0007 a0004c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(63): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0041 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0002t0004 a0001c0002t0025 a0002c0004t0011 a0002c0004t0042 a0002c0004t0043 a0002c0009t0044 a0003c0007t0060 a0004c0008t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 others(115): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0003g0004 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0034 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0056 a0001c0001t0003g0070 a0001c0001t0003g0077 a0001c0001t0004g0024 a0001c0001t0004g0033 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0078 a0001c0001t0004g0082 a0001c0001t0008g0008 a0001c0001t0008g0029 a0001c0001t0008g0053 a0001c0001t0008g0055 a0001c0001t0009g0062 a0001c0001t0009g0074 a0001c0001t0009g0075 a0001c0001t0009g0076 a0001c0001t0010g0115 a0001c0001t0010g0117 a0001c0001t0010g0118 a0001c0001t0010g0125 a0001c0001t0012g0023 a0001c0001t0012g0072 a0001c0001t0012g0079 a0001c0001t0013g0020 a0001c0001t0013g0037 a0001c0001t0013g0048 a0001c0001t0014g0004 a0001c0001t0014g0021 a0001c0001t0014g0051 a0001c0001t0015g0119 a0001c0001t0015g0121 a0001c0001t0015g0124 a0001c0001t0016g0095 a0001c0001t0016g0096 a0001c0001t0017g0089 a0001c0001t0017g0101 a0001c0001t0020g0057 a0001c0001t0020g0080 a0001c0001t0021g0035 a0001c0001t0021g0067 a0001c0001t0022g0039 a0001c0001t0022g0081 a0001c0001t0023g0058 a0001c0001t0023g0060 a0001c0001t0024g0120 a0001c0001t0024g0122 a0001c0001t0025g0038 a0001c0001t0028g0088 a0001c0001t0029g0103 a0001c0001t0030g0091 a0001c0001t0031g0098 a0001c0001t0032g0099 a0001c0001t0033g0009 a0001c0001t0034g0009 a0001c0001t0035g0097 a0001c0001t0036g0090 a0001c0001t0037g0084 a0001c0001t0039g0018 a0001c0001t0041g0014 a0001c0001t0054g0022 a0001c0001t0055g0059 a0001c0001t0056g0105 a0001c0001t0057g0104 a0001c0001t0058g0106 a0001c0001t0059g0019 a0001c0001t0061g0102 a0001c0001t0062g0028 a0001c0001t0063g0061 a0001c0001t0064g0041 a0001c0001t0065g0007 a0001c0001t0066g0043 a0001c0001t0067g0114 a0001c0001t0068g0040 a0001c0001t0069g0126 a0001c0001t0070g0116 a0001c0001t0071g0113 a0001c0001t0072g0123 a0001c0001t0073g0083 a0001c0001t0074g0066 a0001c0001t0075g0027 a0001c0001t0076g0006 a0001c0001t0077g0015 a0001c0001t0078g0016 a0001c0001t0079g0031 a0001c0001t0082g0127 a0001c0001t0083g0085 a0001c0001t0084g0086 a0001c0002t0004g0073 a0001c0002t0025g0071 a0002c0004t0011g0087 a0002c0004t0011g0092 a0002c0004t0011g0100 a0002c0004t0042g0094 a0002c0004t0043g0093 a0002c0009t0044g0049 a0003c0007t0060g0004 a0004c0008t0001g0069	119	167	0.7126	-32	c.102 others(51): Show c.1028+1032_1028+1063delTGGGAGACCGAGGCAGGTGGGTCACC TGAGGT	GTF2H2C	ENSG00000183474.16	transcript	ENST00000380729.8	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr5	TogoVar
GTF3C2_chr2_27320854_27361764	27332500	CGCCTCCC others(25): Show CGCCTCCCGGGTTCACGCCATTCTCCTGACCCA	C C	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA19090.hp1 NA18960.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0058 a0001c0001t0001g0059	2	286	0.0070	-32	c.173 others(51): Show c.1732+1123_1732+1154delTGGGTCAGGAGAATGGCGTGAACCCG GGAGGC	GTF3C2	ENSG00000115207.15	transcript	ENST00000264720.8	protein_coding	12/18			chr2	TogoVar
GUCY1A2_chr11_106669019_107023476	106922662	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG01070.hp2 others(11): Show HG00099.hp2 HG00140.hp1 HG01070.hp2 HG01109.hp2 HG01169.hp1 HG01358.hp2 HG01361.hp2 HG02071.hp1 HG02083.hp2 HG02258.hp1 HG02896.hp1 HG03098.hp1 HG04184.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0012 a0001c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0046 a0001c0002t0002 a0001c0003t0002 a0001c0004t0001 a0001c0004t0005 a0001c0004t0006 a0001c0006t0025 a0001c0012t0003 a0001c0015t0068	a0001c0001t0001g0019 a0001c0001t0003g0079 a0001c0001t0004g0173 others(11): Show a0001c0001t0001g0019 a0001c0001t0003g0079 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0046g0030 a0001c0002t0002g0201 a0001c0003t0002g0254 a0001c0004t0001g0219 a0001c0004t0005g0205 a0001c0004t0006g0218 a0001c0006t0025g0200 a0001c0006t0025g0209 a0001c0012t0003g0207 a0001c0015t0068g0256	14	256	0.0547	-32	c.120 others(53): Show c.1206+16766_1206+16797delATATATATATATATATATATATAT ATATATAT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	4/7			chr11	TogoVar
GUCY2F_chrX_109367906_109487086	109442568	ATAGTCTT others(25): Show ATAGTCTTTGATCAACTAAAGATTACACCTTAG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03486.hp2 HG03195.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0142 a0001c0001t0001g0122 a0001c0001t0001g0142	2	217	0.0092	-32	c.157 others(51): Show c.1570-1118_1570-1087delCTAAGGTGTAATCTTTAGTTGATCAA AGACTA	GUCY2F	ENSG00000101890.5	transcript	ENST00000218006.3	protein_coding	6/19			chrX	TogoVar
GYG2_chrX_2823930_2887818	2845521	ATGTATAT others(25): Show ATGTATATTTATATACACGTGTGTATGTATATT	A A	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	316	0.0032	-32	c.149 others(49): Show c.149+2169_149+2200delGTATATTTATATACACGTGTGTATGTAT ATTT	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYPE_chr4_143865864_143910559	143909313	CCCTCTCC others(25): Show CCCTCTCCTTTGTCCTTCAAACCCCGTTAGTGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	398	0.0025	-32	c.-38 others(43): Show c.-3838_-3807delCCACTAACGGGGTTTGAAGGACAAAGGAGAGG	GYPE	ENSG00000197465.14	transcript	ENST00000358615.9	protein_coding		3755		chr4	TogoVar
GYS2_chr12_21531107_21609847	21607125	GTATACAT others(25): Show GTATACATATATATATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0296 a0002c0002t0001g0296	1	312	0.0032	-32	c.-25 others(43): Show c.-2565_-2534delTATATATATATATATATATATATATATGTATA	GYS2	ENSG00000111713.3	transcript	ENST00000261195.3	protein_coding		2279		chr12	TogoVar
H1-8_chr3_129538175_129556467	129540468	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG02055.hp1 HG02145.hp2 others(2): Show HG01496.hp1 HG02055.hp1 HG02145.hp2 HG02818.hp2 HG03195.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0002 a0004c0006t0001 a0004c0006t0002	a0004c0006t0001g0068 a0004c0006t0002g0007 a0004c0006t0001g0068 a0004c0006t0002g0007	5	422	0.0119	-32	c.-27 others(43): Show c.-2750_-2719delTATATATATATATATATATATATATATATATA	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		2706		chr3	TogoVar
HACD3_chr15_65525463_65583349	65537946	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0292 a0001c0001t0004g0292	1	328	0.0031	-32	c.87+ others(47): Show c.87+7230_87+7261delAAAAAAAAAAAATATATATATATATATATA TA	HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
HACL1_chr3_15555699_15606569	15571927	TCTCCCAG others(25): Show TCTCCCAGGTTCAAGCAATTCTTCTGCCTCAAC	T T	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18975.hp2 NA19056.hp1 NA18957.hp2 NA18975.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0218 a0001c0001t0001g0008 a0001c0001t0001g0218	3	428	0.0070	-32	c.994 others(47): Show c.994-190_994-159delGTTGAGGCAGAAGAATTGCTTGAACCTGGG AG	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	11/16			chr3	TogoVar
HAO1_chr20_7877985_7945458	7914927	TGACCAAC others(25): Show TGACCAACGTGGTGAAACCCCATCTCTACTAAA	T T	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	348	0.0029	-32	c.290 others(47): Show c.290-540_290-509delTTTAGTAGAGATGGGGTTTCACCACGTTGG TC	HAO1	ENSG00000101323.5	transcript	ENST00000378789.4	protein_coding	2/7			chr20	TogoVar
HAT1_chr2_171917461_171988686	171974189	AAAAGAAA others(25): Show AAAAGAAAAAAAGAAAAAGAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG03710.hp1 HG01070.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0059 a0001c0001t0001g0009 a0001c0001t0001g0059	2	326	0.0061	-32	c.824 others(49): Show c.824-1964_824-1933delGAAAAAAAGAAAAAGAAAAAAAAAAAAA GAAA	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAUS8_chr19_17044729_17080452	17055143	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02698.hp1 HG02165.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0088 a0001c0002t0001g0027 a0001c0002t0001g0088	2	400	0.0050	-32	c.787 others(47): Show c.787+686_787+717delATATATATATATATATATATATATATATAT AT	HAUS8	ENSG00000131351.15	transcript	ENST00000253669.10	protein_coding	9/10			chr19	TogoVar
HAVCR1_chr5_157024413_157064116	157044397	GAAGGAAG others(25): Show GAAGGAAGGAAGGAAGGAAGGAAGGAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	352	0.0028	-32	c.782 others(49): Show c.782-1747_782-1716delTTCTTTCTCCTTCCTTCCTTCCTTCCTT CCTT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044452	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01167.hp2 HG01169.hp1 others(4): Show HG01070.hp2 HG01167.hp2 HG01169.hp1 HG02723.hp1 HG03098.hp1 NA18993.hp2 NA19084.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0006c0006t0003 a0001c0001t0001 a0006c0006t0003	a0001c0001t0001g0096 a0001c0001t0001g0233 a0006c0006t0003g0003 others(3): Show a0001c0001t0001g0096 a0001c0001t0001g0233 a0006c0006t0003g0003 a0006c0006t0003g0045 a0006c0006t0003g0046 a0006c0006t0003g0047	7	352	0.0199	-32	c.782 others(49): Show c.782-1802_782-1771delCCTTCCTTCCTTCCTTTCTTTCTTTCTT TCTT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044460	AAAGAAAG others(25): Show AAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02976.hp1 HG03516.hp1 others(1): Show HG01884.hp1 HG02976.hp1 HG03516.hp1 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0334 others(1): Show a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0334 a0002c0002t0001g0336	4	352	0.0114	-32	c.782 others(49): Show c.782-1810_782-1779delCCTTCCTTCCTTCCTTCCTTCCTTTCTT TCTT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044611	GAAAGAGA others(25): Show GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0292 a0003c0003t0001g0292	1	352	0.0028	-32	c.782 others(49): Show c.782-1961_782-1930delTTCTTTCTTTCTTTCTTTCTTTCTTTCT CTTT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157057386	GGAAAGAA others(25): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0211 a0002c0002t0001g0211	1	352	0.0028	-32	c.46+ others(45): Show c.46+480_46+511delTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	2/8			chr5	TogoVar
HCAR2_chr12_122696293_122708357	122698096	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG02145.hp2 HG06807.hp1 HG01106.hp2 HG02145.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	428	0.0070	-32	c.40 others(43): Show c.4064_*4095delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	HCAR2	ENSG00000182782.8	transcript	ENST00000328880.6	protein_coding		3196		chr12	TogoVar
HCN1_chr5_45249948_45701380	45373718	TTACGGTA others(25): Show TTACGGTATATACGTCATCTATAATATATTACA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0071 a0001c0001t0026g0071	1	226	0.0044	-32	c.123 others(53): Show c.1231-20504_1231-20473delTGTAATATATTATAGATGACGTAT ATACCGTA	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCN1_chr5_45249948_45701380	45373858	CGTCATCT others(25): Show CGTCATCTATAATATATTACATACGGTATATAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0035 a0003c0003t0035	a0003c0003t0035g0220 a0003c0003t0035g0220	1	226	0.0044	-32	c.123 others(53): Show c.1231-20644_1231-20613delATATATACCGTATGTAATATATTA TAGATGAC	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCN1_chr5_45249948_45701380	45376238	ATATATTC others(25): Show ATATATTCTATATAGAATATAGAATATATATTC	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	226	0.0044	-32	c.123 others(53): Show c.1230+20222_1230+20253delGAATATATATTCTATATTCTATAT AGAATATA	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCRTR1_chr1_31612689_31632613	31617494	GATGGACG others(25): Show GATGGACGCATGAATGGAGGTGGGATGGAAGCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01891.hp1 HG02559.hp1 others(1): Show HG01255.hp1 HG01891.hp1 HG02559.hp1 NA20300.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0007 a0003c0004t0005 a0003c0004t0007	a0003c0004t0005g0030 a0003c0004t0007g0014 a0003c0004t0007g0029 a0003c0004t0005g0030 a0003c0004t0007g0014 a0003c0004t0007g0029	4	334	0.0120	-32	c.-59 others(41): Show c.-590_-559delATGGACGCATGAATGGAGGTGGGATGGAAGCT	HCRTR1	ENSG00000121764.12	transcript	ENST00000403528.7	protein_coding		194		chr1	TogoVar
HDAC7_chr12_47777722_47824903	47810816	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG00733.hp2 others(40): Show HG00140.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG01070.hp2 HG01081.hp1 HG01099.hp2 HG01243.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG02109.hp2 HG02258.hp1 HG02280.hp1 HG02602.hp1 HG02976.hp2 HG03130.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03927.hp1 NA18522.hp1 NA18948.hp1 NA18953.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18961.hp1 NA18971.hp2 NA18975.hp1 NA18983.hp1 NA19009.hp2 NA19058.hp1 NA19060.hp2 NA19068.hp2 NA19083.hp2 NA20805.hp1 NA21309.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0012 a0001c0020 a0001c0021 a0010c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0015 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0007t0006 a0001c0012t0005 a0001c0020t0005 a0001c0021t0001 a0010c0027t0002	a0001c0001t0001g0133 a0001c0001t0001g0200 a0001c0001t0001g0201 others(36): Show a0001c0001t0001g0133 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0233 a0001c0001t0002g0338 a0001c0001t0002g0341 a0001c0001t0003g0203 a0001c0001t0003g0232 a0001c0001t0004g0052 a0001c0001t0004g0199 a0001c0001t0004g0314 a0001c0001t0005g0021 a0001c0001t0005g0031 a0001c0001t0005g0042 a0001c0001t0005g0197 a0001c0001t0005g0202 a0001c0001t0005g0315 a0001c0001t0005g0319 a0001c0001t0005g0320 a0001c0001t0005g0329 a0001c0001t0005g0330 a0001c0001t0005g0340 a0001c0001t0007g0007 a0001c0001t0007g0008 a0001c0001t0007g0045 a0001c0001t0007g0049 a0001c0001t0007g0051 a0001c0001t0007g0053 a0001c0001t0015g0234 a0001c0002t0001g0277 a0001c0003t0001g0276 a0001c0003t0001g0312 a0001c0003t0003g0333 a0001c0007t0006g0050 a0001c0007t0006g0313 a0001c0012t0005g0135 a0001c0020t0005g0198 a0001c0021t0001g0148 a0010c0027t0002g0342	43	380	0.1132	-32	c.20- others(47): Show c.20-8574_20-8543delTAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	HDAC7	ENSG00000061273.18	transcript	ENST00000080059.12	protein_coding	1/25			chr12	TogoVar
HDAC9_chr7_18490749_19007416	18732669	ATATGTGT others(25): Show ATATGTGTGCGTATGTGTACACACACACACGTG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0125 a0001c0001t0009g0125	1	156	0.0064	-32	c.190 others(51): Show c.1909+4970_1909+5001delACACGTGTATGTGTGCGTATGTGTAC ACACAC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDGFL1_chr6_22564566_22576666	22576522	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00642.hp2 others(92): Show HG00544.hp1 HG00558.hp2 HG00642.hp2 HG00673.hp1 HG01081.hp1 HG01123.hp1 HG01167.hp2 HG01243.hp2 HG01261.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp2 HG02735.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG03017.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18954.hp2 NA18959.hp2 NA18960.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18974.hp1 NA18978.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19005.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19058.hp1 NA19062.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19075.hp2 NA19076.hp1 NA19079.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0007 a0002c0008	a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 others(9): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 a0001c0001t0023 a0001c0003t0001 a0001c0004t0004 a0001c0004t0022 a0002c0002t0001 a0002c0002t0013 a0002c0002t0014 a0002c0007t0001 a0002c0008t0001	a0001c0001t0001g0000 a0001c0001t0006g0000 a0001c0001t0016g0000 others(9): Show a0001c0001t0001g0000 a0001c0001t0006g0000 a0001c0001t0016g0000 a0001c0001t0023g0000 a0001c0003t0001g0000 a0001c0004t0004g0000 a0001c0004t0022g0000 a0002c0002t0001g0000 a0002c0002t0013g0000 a0002c0002t0014g0000 a0002c0007t0001g0000 a0002c0008t0001g0000	95	432	0.2199	-32	c.61 others(43): Show c.6192_*6223delATATATATATATATATATATATATATATATAT	HDGFL1	ENSG00000112273.7	transcript	ENST00000510882.4	protein_coding		4857		chr6	TogoVar
HEATR4_chr14_73473484_73563947	73477064	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0257 a0001c0004t0004g0257	1	368	0.0027	-32	c.15 others(43): Show c.1510_*1541delAATATATATATATATATATATATATATATATA	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding		1419		chr14	TogoVar
HEATR4_chr14_73473484_73563947	73477068	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03540.hp1 HG03453.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0016 a0001c0001t0003 a0001c0004t0016	a0001c0001t0003g0156 a0001c0004t0016g0364 a0001c0001t0003g0156 a0001c0004t0016g0364	2	368	0.0054	-32	c.15 others(43): Show c.1506_*1537delAAAAAATATATATATATATATATATATATATA	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding		1415		chr14	TogoVar
HEATR4_chr14_73473484_73563947	73477072	ATATATAT others(25): Show ATATATATATATATATATATATATTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0313 a0001c0002t0002g0313	1	368	0.0027	-32	c.15 others(43): Show c.1502_*1533delAAAAAAAAAATATATATATATATATATATATA	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding		1411		chr14	TogoVar
HEATR4_chr14_73473484_73563947	73488910	TACCTGGG others(25): Show TACCTGGGAGGCTGAGGCAGGAGAATCGCTTGA	T T	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0243 a0001c0001t0003g0243	1	368	0.0027	-32	c.284 others(51): Show c.2844+4124_2844+4155delTCAAGCGATTCTCCTGCCTCAGCCTC CCAGGT	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	17/17			chr14	TogoVar
HEATR4_chr14_73473484_73563947	73509810	CCATATAT others(25): Show CCATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01099.hp1 HG01884.hp2 others(2): Show HG01074.hp2 HG01099.hp1 HG01884.hp2 HG02647.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0002t0002 a0001c0003t0004 a0001c0001t0004 a0001c0002t0002 a0001c0003t0004	a0001c0001t0004g0250 a0001c0002t0002g0209 a0001c0002t0002g0268 others(2): Show a0001c0001t0004g0250 a0001c0002t0002g0209 a0001c0002t0002g0268 a0001c0002t0002g0297 a0001c0003t0004g0147	5	368	0.0136	-32	c.155 others(49): Show c.1559-369_1559-338delTATATATATATATATATATATATATATA TATG	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	7/17			chr14	TogoVar
HEATR5A_chr14_31286788_31425550	31407580	TTATTTAT others(25): Show TTATTTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA19083.hp1 NA19083.hp2 NA18995.hp2 NA19083.hp1 NA19083.hp2	a0003 a0006 a0023 a0003 a0006 a0023	a0003c0003 a0006c0007 a0023c0029 a0003c0003 a0006c0007 a0023c0029	a0003c0003t0001 a0006c0007t0001 a0023c0029t0001 a0003c0003t0001 a0006c0007t0001 a0023c0029t0001	a0003c0003t0001g0249 a0006c0007t0001g0321 a0023c0029t0001g0320 a0003c0003t0001g0249 a0006c0007t0001g0321 a0023c0029t0001g0320	3	354	0.0085	-32	c.-74 others(49): Show c.-74-4563_-74-4532delTATATATATATATATATATATATATATA AATA	HEATR5A	ENSG00000129493.15	transcript	ENST00000543095.7	protein_coding	1/35			chr14	TogoVar
HECTD4_chr12_112155195_112387431	112323965	TCTTCCTT others(25): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0002 a0001c0003t0009g0002	1	270	0.0037	-32	c.178 others(49): Show c.178-4255_178-4224delGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAG	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECW1_chr7_43107647_43571001	43488324	GAGGAAGG others(25): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0167 a0001c0002t0005g0167	1	182	0.0055	-32	c.323 others(51): Show c.3235-3705_3235-3674delGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAA	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW2_chr2_196189072_196598554	196563454	TACCCAGG others(25): Show TACCCAGGAGGCTGAGGCAGGAGAATCGCTTGA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02109.hp2 HG02257.hp2 others(7): Show HG01496.hp1 HG02109.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG03098.hp2 HG03130.hp1 HG03540.hp2 HG06807.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0023 a0002c0012 a0002c0025	a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 others(7): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0002t0005 a0001c0005t0008 a0001c0006t0002 a0001c0006t0005 a0001c0023t0004 a0002c0012t0004 a0002c0025t0009	a0001c0001t0006g0014 a0001c0001t0009g0015 a0001c0001t0012g0093 others(7): Show a0001c0001t0006g0014 a0001c0001t0009g0015 a0001c0001t0012g0093 a0001c0002t0005g0091 a0001c0005t0008g0097 a0001c0006t0002g0092 a0001c0006t0005g0096 a0001c0023t0004g0016 a0002c0012t0004g0095 a0002c0025t0009g0094	10	112	0.0893	-32	c.-36 others(51): Show c.-36+30022_-36+30053delTCAAGCGATTCTCCTGCCTCAGCCTC CTGGGT	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	1/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196598319	AAGGGGAA others(25): Show AAGGGGAAGGGGGGAAGGGAAGGGGAGGGTAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00733.hp1 others(78): Show HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04204.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0014 a0001c0015 a0001c0020 a0001c0026 a0002c0012 a0003c0018 a0004c0017 a0005c0022 a0006c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0011 a0001c0002t0015 a0001c0002t0024 a0001c0002t0031 a0001c0003t0003 a0001c0003t0004 a0001c0003t0009 a0001c0003t0010 a0001c0004t0002 a0001c0004t0007 a0001c0005t0004 a0001c0005t0012 a0001c0006t0002 a0001c0006t0010 a0001c0007t0004 a0001c0008t0005 a0001c0008t0010 a0001c0009t0001 a0001c0009t0006 a0001c0009t0020 a0001c0010t0018 a0001c0011t0002 a0001c0011t0003 a0001c0013t0008 a0001c0014t0026 a0001c0015t0016 a0001c0020t0016 a0001c0026t0021 a0002c0012t0002 a0003c0018t0019 a0004c0017t0003 a0005c0022t0008 a0006c0024t0003	a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0072 others(78): Show a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0072 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0075 a0001c0001t0003g0018 a0001c0001t0003g0023 a0001c0001t0003g0029 a0001c0001t0004g0107 a0001c0001t0004g0110 a0001c0001t0005g0052 a0001c0001t0005g0069 a0001c0001t0006g0019 a0001c0001t0006g0026 a0001c0001t0012g0034 a0001c0001t0012g0093 a0001c0001t0013g0063 a0001c0001t0017g0022 a0001c0001t0017g0111 a0001c0001t0018g0033 a0001c0001t0023g0109 a0001c0001t0025g0021 a0001c0001t0027g0032 a0001c0001t0028g0112 a0001c0002t0001g0039 a0001c0002t0001g0044 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0076 a0001c0002t0002g0053 a0001c0002t0003g0028 a0001c0002t0003g0070 a0001c0002t0005g0080 a0001c0002t0005g0091 a0001c0002t0006g0035 a0001c0002t0006g0077 a0001c0002t0007g0071 a0001c0002t0011g0046 a0001c0002t0011g0068 a0001c0002t0015g0036 a0001c0002t0024g0085 a0001c0002t0031g0042 a0001c0003t0003g0067 a0001c0003t0004g0074 a0001c0003t0009g0073 a0001c0003t0010g0025 a0001c0004t0002g0041 a0001c0004t0007g0057 a0001c0004t0007g0058 a0001c0004t0007g0059 a0001c0005t0004g0031 a0001c0005t0012g0056 a0001c0006t0002g0092 a0001c0006t0010g0083 a0001c0007t0004g0047 a0001c0008t0005g0086 a0001c0008t0010g0081 a0001c0009t0001g0040 a0001c0009t0006g0048 a0001c0009t0020g0087 a0001c0010t0018g0043 a0001c0011t0002g0027 a0001c0011t0003g0001 a0001c0013t0008g0020 a0001c0014t0026g0078 a0001c0015t0016g0066 a0001c0020t0016g0037 a0001c0026t0021g0038 a0002c0012t0002g0064 a0003c0018t0019g0088 a0004c0017t0003g0030 a0005c0022t0008g0017 a0006c0024t0003g0108	81	112	0.7232	-32	c.-48 others(43): Show c.-4879_-4848delCTTACCCTCCCCTTCCCTTCCCCCCTTCCCCT	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding		4766		chr2	TogoVar

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