Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HDAC9_chr7_18490749_19007416	18859846	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0056 a0001c0002t0041g0056	1	156	0.0064	20	c.268 others(41): Show c.2685-14631_2685-14630insGTGTGTGTGTGTGTGTGTGT	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18932848	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp2 HG02258.hp1 others(5): Show HG00438.hp1 HG00741.hp2 HG02258.hp1 HG03098.hp2 HG03209.hp1 HG03486.hp1 NA18970.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0007 a0001c0001t0048 a0001c0002t0003 others(5): Show a0001c0001t0007 a0001c0001t0048 a0001c0002t0003 a0001c0002t0005 a0001c0002t0018 a0001c0003t0008 a0001c0003t0051 a0001c0005t0002	a0001c0001t0007g0041 a0001c0001t0048g0087 a0001c0002t0003g0067 others(5): Show a0001c0001t0007g0041 a0001c0001t0048g0087 a0001c0002t0003g0067 a0001c0002t0005g0124 a0001c0002t0018g0021 a0001c0003t0008g0009 a0001c0003t0051g0020 a0001c0005t0002g0105	8	156	0.0513	20	c.280 others(39): Show c.2804-2948_2804-2929dupAAAGAAAGAAAGAAAGAAAG	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	22/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18977919	G G	GACAGACA others(13): Show GACAGACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0012 a0001c0001t0013g0012	1	156	0.0064	20	c.317 others(39): Show c.3170+1969_3170+1970insGACACACACACACACACACA	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	25/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDDC2_chr6_125270350_125306967	125301442	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0161 a0001c0001t0003g0161	1	374	0.0027	20	c.84+ others(33): Show c.84+387_84+406dupGTGTGTGTGTGTGTGTGTGT	HDDC2	ENSG00000111906.18	transcript	ENST00000398153.7	protein_coding	1/5			chr6	TogoVar
HDGFL2_chr19_4467297_4507207	4499417	T T	TGGGGCGA others(13): Show TGGGGCGAGGGGTTCAGAGCC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0240 a0001c0002t0002g0240	1	358	0.0028	20	c.157 others(35): Show c.1576-68_1576-49dupGAGGGGTTCAGAGCCGGGGC	HDGFL2	ENSG00000167674.15	transcript	ENST00000616600.5	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr19	TogoVar
HDGFL3_chr15_83122753_83212823	83198054	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0031 a0001c0001t0013g0031	1	246	0.0041	20	c.84+ others(35): Show c.84+9257_84+9276dupTTTTTTTTTTTTTTTTTTTT	HDGFL3	ENSG00000166503.9	transcript	ENST00000299633.7	protein_coding	1/5			chr15	TogoVar
HDHD3_chr9_113368422_113381986	113381412	C C	CCTCCCTC others(13): Show CCTCCCTCCCTCCCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(304): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0002c0003 others(3): Show a0001c0001 a0002c0002 a0002c0003 a0003c0004 a0004c0006 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0002t0014 a0002c0003t0002 a0002c0003t0003 a0003c0004t0002 a0003c0004t0006 a0004c0006t0001 a0005c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(86): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0002g0008 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0054 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0005g0021 a0001c0001t0005g0041 a0001c0001t0005g0055 a0001c0001t0007g0022 a0001c0001t0007g0068 a0001c0001t0009g0079 a0002c0002t0001g0031 a0002c0002t0002g0004 a0002c0002t0002g0007 a0002c0002t0002g0011 a0002c0002t0002g0013 a0002c0002t0002g0024 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0052 a0002c0002t0002g0082 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0092 a0002c0002t0002g0098 a0002c0002t0002g0100 a0002c0002t0003g0002 a0002c0002t0003g0006 a0002c0002t0003g0037 a0002c0002t0003g0038 a0002c0002t0004g0012 a0002c0002t0004g0023 a0002c0002t0004g0078 a0002c0002t0008g0032 a0002c0002t0008g0074 a0002c0002t0009g0080 a0002c0002t0010g0083 a0002c0002t0010g0096 a0002c0002t0014g0106 a0002c0003t0002g0019 a0002c0003t0002g0020 a0002c0003t0002g0025 a0002c0003t0002g0084 a0002c0003t0002g0085 a0002c0003t0002g0093 a0002c0003t0002g0099 a0002c0003t0003g0104 a0002c0003t0003g0105 a0003c0004t0002g0034 a0003c0004t0002g0086 a0003c0004t0002g0095 a0003c0004t0006g0036 a0003c0004t0006g0101 a0003c0004t0006g0102 a0003c0004t0006g0103 a0004c0006t0001g0064 a0005c0005t0001g0075	307	464	0.6616	20	c.-49 others(31): Show c.-4975_-4974insAGAGAGAGGGAGGGAGGGAG	HDHD3	ENSG00000119431.10	transcript	ENST00000374180.4	protein_coding		4427		chr9	TogoVar
HDHD3_chr9_113368422_113381986	113381760	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG01069.hp2 others(7): Show HG00099.hp1 HG00642.hp2 HG01069.hp2 HG01515.hp2 HG03098.hp1 HG03209.hp2 HG03710.hp2 HG04184.hp2 NA18522.hp1 NA18974.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0007 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0007 a0002c0002t0002 a0002c0003t0003	a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0007g0022 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0007g0022 a0002c0002t0002g0011 a0002c0003t0003g0105	10	464	0.0216	20	c.-53 others(31): Show c.-5323_-5322insAAAAAAAAAAAAAAAAAAAA	HDHD3	ENSG00000119431.10	transcript	ENST00000374180.4	protein_coding		4775		chr9	TogoVar
HDHD5_chr22_17132520_17164277	17157074	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0245 a0001c0004t0001g0245	1	422	0.0024	20	c.126 others(37): Show c.126+2051_126+2052insTGTGTGTGTGTGTGTGTGTG	HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding	1/7			chr22	TogoVar
HDHD5_chr22_17132520_17164277	17157085	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03225.hp1 HG03579.hp2 others(1): Show HG02723.hp1 HG03225.hp1 HG03579.hp2 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0238 a0001c0004t0001g0239 a0001c0004t0001g0240 others(1): Show a0001c0004t0001g0238 a0001c0004t0001g0239 a0001c0004t0001g0240 a0001c0004t0001g0241	4	422	0.0095	20	c.126 others(37): Show c.126+2021_126+2040dupGTGTGTGTGTGTGTGTGTGT	HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding	1/7			chr22	TogoVar
HDX_chrX_84312878_84507453	84417218	G G	GAAAAAGA others(13): Show GAAAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02027.hp1 HG02735.hp1 others(8): Show HG00609.hp1 HG02027.hp1 HG02735.hp1 NA18747.hp1 NA18966.hp1 NA18970.hp1 NA18972.hp2 NA18979.hp2 NA18992.hp2 NA19005.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0099 others(8): Show a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0132	11	269	0.0409	20	c.130 others(41): Show c.1305+23313_1305+23314insTTCTTTCTTTCTTTCTTTTT	HDX	ENSG00000165259.14	transcript	ENST00000373177.3	protein_coding	5/10			chrX	TogoVar
HEATR4_chr14_73473484_73563947	73506804	G G	GTTTTTTT others(13): Show GTTTTTTTTTTGTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18962.hp2 NA19007.hp1 NA18961.hp2 NA18962.hp2 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0124 a0001c0002t0001g0126 a0001c0002t0001g0043 a0001c0002t0001g0124 a0001c0002t0001g0126	3	368	0.0082	20	c.188 others(37): Show c.1882-234_1882-233insAAAAAAAAACAAAAAAAAAA	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	9/17			chr14	TogoVar
HEATR4_chr14_73473484_73563947	73506804	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01069.hp1 HG01071.hp2 others(13): Show HG00597.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01346.hp2 HG01517.hp1 HG02080.hp2 HG02165.hp2 HG02630.hp2 HG03834.hp1 NA18962.hp1 NA18982.hp1 NA18984.hp2 NA19011.hp1 NA19065.hp1 homoSapiens_chm13v2.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0002 a0012c0023 a0001c0001 a0001c0002 a0012c0023	a0001c0001t0001 a0001c0002t0002 a0001c0002t0007 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0008 a0001c0002t0014 a0012c0023t0003	a0001c0001t0001g0098 a0001c0002t0002g0203 a0001c0002t0002g0270 others(13): Show a0001c0001t0001g0098 a0001c0002t0002g0203 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0285 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0332 a0001c0002t0007g0160 a0001c0002t0007g0161 a0001c0002t0008g0038 a0001c0002t0008g0068 a0001c0002t0014g0170 a0012c0023t0003g0215	16	368	0.0435	20	c.188 others(37): Show c.1882-253_1882-234dupAAAAAAAAAAAAAAAAAAAA	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	9/17			chr14	TogoVar
HEATR4_chr14_73473484_73563947	73506810	T T	TTTTTGTT others(13): Show TTTTTGTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0125 a0001c0002t0001g0125	1	368	0.0027	20	c.188 others(37): Show c.1882-240_1882-239insCAAAAAAAAAAAAAACAAAA	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	9/17			chr14	TogoVar
HEATR4_chr14_73473484_73563947	73524310	A A	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0020 a0020	a0020c0020 a0020c0020	a0020c0020t0005 a0020c0020t0005	a0020c0020t0005g0061 a0020c0020t0005g0061	1	368	0.0027	20	c.-72 others(37): Show c.-72-1087_-72-1086insATATATATATATATTTTTTT	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	2/17			chr14	TogoVar
HEATR4_chr14_73473484_73563947	73524310	A A	AAAAAATA others(13): Show AAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG03017.hp2 HG00544.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0169 a0001c0001t0005g0009 a0001c0001t0004g0169 a0001c0001t0005g0009	2	368	0.0054	20	c.-72 others(37): Show c.-72-1087_-72-1086insATATATATATATATATTTTT	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	2/17			chr14	TogoVar
HEATR5A_chr14_31286788_31425550	31373803	C C	CTCTTCTG others(13): Show CTCTTCTGCATCTGCCCCCCG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0022 a0022	a0022c0020 a0022c0020	a0022c0020t0004 a0022c0020t0004	a0022c0020t0004g0193 a0022c0020t0004g0193	1	354	0.0028	20	c.186 others(39): Show c.1861+1012_1861+1013insCGGGGGGCAGATGCAGAAGA	HEATR5A	ENSG00000129493.15	transcript	ENST00000543095.7	protein_coding	12/35			chr14	TogoVar
HEATR5B_chr2_36975895_37089372	37037145	G G	GAGATGGA others(13): Show GAGATGGATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0277 a0001c0002t0001g0277	1	314	0.0032	20	c.321 others(37): Show c.3216+709_3216+710insATATATATATATATCCATCT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	21/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	37037145	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03471.hp2 HG02976.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0048 a0002c0003t0001g0101 a0001c0001t0001g0048 a0002c0003t0001g0101	2	314	0.0064	20	c.321 others(37): Show c.3216+709_3216+710insATATATATATATATATATAT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	21/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	37082086	T T	TTTTTTTT others(13): Show TTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA19011.hp2 NA18969.hp1 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0210 a0001c0002t0001g0211	2	314	0.0064	20	c.126 others(37): Show c.126+1202_126+1203insGAAAAAAAAAAAAAAAAAAA	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	2/35			chr2	TogoVar
HECA_chr6_139130080_139185802	139152418	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00438.hp2 others(19): Show HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp2 HG00673.hp2 HG00741.hp2 HG01192.hp2 HG01243.hp2 HG01261.hp2 HG02056.hp2 HG02132.hp2 HG02698.hp2 NA18747.hp1 NA18949.hp2 NA18950.hp2 NA18953.hp1 NA18980.hp1 NA18982.hp1 NA18986.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0010 a0001c0002t0003 a0001c0002t0010	a0001c0002t0003g0004 a0001c0002t0003g0019 a0001c0002t0003g0046 others(14): Show a0001c0002t0003g0004 a0001c0002t0003g0019 a0001c0002t0003g0046 a0001c0002t0003g0047 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0056 a0001c0002t0003g0057 a0001c0002t0003g0060 a0001c0002t0003g0061 a0001c0002t0003g0062 a0001c0002t0003g0108 a0001c0002t0003g0109 a0001c0002t0003g0110 a0001c0002t0003g0125 a0001c0002t0010g0052 a0001c0002t0010g0117	22	314	0.0701	20	c.272 others(39): Show c.272-13858_272-13839dupGTGTGTGTGTGTGTGTGTGT	HECA	ENSG00000112406.5	transcript	ENST00000367658.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
HECTD1_chr14_31095117_31212793	31096670	C C	CATATATA others(13): Show CATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0004 a0001c0018t0004	a0001c0018t0004g0017 a0001c0018t0004g0017	1	342	0.0029	20	c.42 others(31): Show c.4259_*4260insATATATATATATATATATAT	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding		3446		chr14	TogoVar
HECTD1_chr14_31095117_31212793	31134042	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02809.hp1 HG02922.hp1 others(2): Show HG02630.hp2 HG02809.hp1 HG02922.hp1 HG03041.hp2 HG03130.hp2	a0001 a0001	a0001c0011 a0001c0026 a0001c0011 a0001c0026	a0001c0011t0001 a0001c0026t0001 a0001c0011t0001 a0001c0026t0001	a0001c0011t0001g0046 a0001c0011t0001g0047 a0001c0011t0001g0048 others(2): Show a0001c0011t0001g0046 a0001c0011t0001g0047 a0001c0011t0001g0048 a0001c0011t0001g0049 a0001c0026t0001g0298	5	342	0.0146	20	c.357 others(37): Show c.3579-368_3579-367insTTTTTTTTTTTTTTTTTTTT	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding	22/42			chr14	TogoVar
HECTD1_chr14_31095117_31212793	31134518	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA19006.hp1 NA19087.hp1 NA18999.hp1 NA19006.hp1 NA19087.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0295 a0002c0005t0001g0321 a0002c0005t0001g0327 a0002c0005t0001g0295 a0002c0005t0001g0321 a0002c0005t0001g0327	3	342	0.0088	20	c.357 others(37): Show c.3578+334_3578+353dupCACACACACACACACACACA	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding	22/42			chr14	TogoVar
HECTD1_chr14_31095117_31212793	31179429	C C	CATAAAAT others(13): Show CATAAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18947.hp1 NA18954.hp2 others(3): Show NA18939.hp1 NA18947.hp1 NA18954.hp2 NA19012.hp2 NA19068.hp1 NA19082.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0001 a0001c0008t0001 a0001c0003t0001 a0001c0008t0001	a0001c0003t0001g0243 a0001c0003t0001g0253 a0001c0003t0001g0254 others(3): Show a0001c0003t0001g0243 a0001c0003t0001g0253 a0001c0003t0001g0254 a0001c0003t0001g0267 a0001c0003t0001g0279 a0001c0008t0001g0237	6	342	0.0175	20	c.141 others(37): Show c.141-1195_141-1176dupTTTATTTTATTTTATTTTAT	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding	2/42			chr14	TogoVar
HECTD1_chr14_31095117_31212793	31188142	T T	TAGATGGA others(13): Show TAGATGGATAGACAGACAGAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03942.hp2 NA18971.hp1 others(2): Show HG02074.hp1 HG03942.hp2 NA18971.hp1 NA19057.hp1 NA19075.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0012 a0001c0010t0004g0013 a0001c0010t0004g0014 others(2): Show a0001c0010t0004g0012 a0001c0010t0004g0013 a0001c0010t0004g0014 a0001c0010t0004g0015 a0001c0010t0004g0016	5	342	0.0146	20	c.141 others(37): Show c.141-9889_141-9888insGTCTGTCTGTCTATCCATCT	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding	2/42			chr14	TogoVar
HECTD4_chr12_112155195_112387431	112246141	A A	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00735.hp2 others(72): Show HG00544.hp1 HG00597.hp1 HG00735.hp2 HG01071.hp1 HG01081.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG01496.hp2 HG01928.hp1 HG01934.hp2 HG01993.hp1 HG02027.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02717.hp1 HG02809.hp1 HG03017.hp2 HG03041.hp1 HG03239.hp2 HG04204.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18955.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18973.hp1 NA18974.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp2 NA18989.hp1 NA18994.hp1 NA19002.hp1 NA19004.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19054.hp1 NA19057.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19088.hp2 NA19091.hp2 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0010	a0001c0002 a0001c0007 a0001c0016 others(5): Show a0001c0002 a0001c0007 a0001c0016 a0001c0018 a0002c0005 a0003c0008 a0007c0015 a0010c0014	a0001c0002t0001 a0001c0002t0008 a0001c0007t0001 others(6): Show a0001c0002t0001 a0001c0002t0008 a0001c0007t0001 a0001c0016t0001 a0001c0018t0001 a0002c0005t0001 a0003c0008t0001 a0007c0015t0001 a0010c0014t0001	a0001c0002t0001g0161 a0001c0002t0001g0163 a0001c0002t0001g0164 others(72): Show a0001c0002t0001g0161 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0196 a0001c0002t0001g0198 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0213 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0221 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0008g0250 a0001c0007t0001g0172 a0001c0007t0001g0183 a0001c0016t0001g0168 a0001c0018t0001g0162 a0002c0005t0001g0165 a0002c0005t0001g0170 a0002c0005t0001g0199 a0002c0005t0001g0231 a0002c0005t0001g0239 a0002c0005t0001g0246 a0003c0008t0001g0207 a0003c0008t0001g0212 a0007c0015t0001g0173 a0010c0014t0001g0195	75	270	0.2778	20	c.451 others(37): Show c.4513+740_4513+759dupATTTTATTTTATTTTATTTT	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	29/75			chr12	TogoVar
HECTD4_chr12_112155195_112387431	112323947	C C	CTTCTTCC others(13): Show CTTCTTCCTTTCTTCCTTTCT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	270	0.0037	20	c.178 others(37): Show c.178-4206_178-4205insAGAAAGGAAGAAAGGAAGAA	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECTD4_chr12_112155195_112387431	112323947	C C	CTTCTTTC others(13): Show CTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0093 a0001c0012t0002g0093	1	270	0.0037	20	c.178 others(37): Show c.178-4225_178-4206dupAGAAAGAAAGAAAGAAAGAA	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECTD4_chr12_112155195_112387431	112335143	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01952.hp1 others(15): Show HG01256.hp1 HG01258.hp2 HG01952.hp1 HG02071.hp1 HG02129.hp2 HG02165.hp2 HG02273.hp2 HG03017.hp2 HG03098.hp2 HG03239.hp2 HG04204.hp1 NA18945.hp1 NA18950.hp1 NA18971.hp1 NA18973.hp1 NA19084.hp1 NA19088.hp2 NA19091.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0002c0005 others(1): Show a0001c0001 a0001c0002 a0002c0005 a0007c0015	a0001c0001t0001 a0001c0002t0001 a0001c0002t0020 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0020 a0002c0005t0001 a0007c0015t0001	a0001c0001t0001g0157 a0001c0002t0001g0161 a0001c0002t0001g0167 others(15): Show a0001c0001t0001g0157 a0001c0002t0001g0161 a0001c0002t0001g0167 a0001c0002t0001g0171 a0001c0002t0001g0175 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0187 a0001c0002t0001g0192 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0226 a0001c0002t0001g0245 a0001c0002t0020g0270 a0002c0005t0001g0197 a0002c0005t0001g0239 a0007c0015t0001g0173	18	270	0.0667	20	c.178 others(39): Show c.178-15421_178-15402dupGTGTGTGTGTGTGTGTGTGT	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECTD4_chr12_112155195_112387431	112367306	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	270	0.0037	20	c.177 others(39): Show c.177+14626_177+14645dupCTTTCTTTCTTTCTTTCTTT	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECTD4_chr12_112155195_112387431	112387128	T T	TACACACA others(13): Show TACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01891.hp1 HG02055.hp1 others(9): Show HG01081.hp1 HG01891.hp1 HG02055.hp1 HG02071.hp1 HG02132.hp2 HG02486.hp2 HG02523.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp1 NA19070.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0002c0005 a0001c0001 a0002c0004 a0002c0005	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0002c0004t0005 a0002c0005t0001	a0001c0001t0003g0014 a0001c0001t0004g0067 a0001c0001t0004g0078 others(9): Show a0001c0001t0003g0014 a0001c0001t0004g0067 a0001c0001t0004g0078 a0001c0001t0005g0044 a0001c0001t0005g0047 a0001c0001t0005g0070 a0001c0001t0006g0259 a0001c0001t0006g0260 a0001c0001t0007g0024 a0001c0001t0014g0148 a0002c0004t0005g0048 a0002c0005t0001g0197	12	270	0.0444	20	c.-50 others(31): Show c.-5001_-5000insGTGTGTGTGTGTGTGTGTGT	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding		4698		chr12	TogoVar
HECW1_chr7_43107647_43571001	43268467	G G	GGAGACAT others(13): Show GGAGACATGTTTCATTGTCAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0094 a0002c0005t0003g0094	1	182	0.0055	20	c.27+ others(37): Show c.27+24538_27+24557dupGACATGTTTCATTGTCATGA	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43336124	T T	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0059 a0001c0002t0005g0059	1	182	0.0055	20	c.460 others(39): Show c.460+15401_460+15402insCTCTCTCTCTCTCTCTCTCT	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43425304	T T	TGATAGAT others(13): Show TGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA19090.hp2 NA18946.hp1 NA19090.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0036 a0001c0003t0001 a0001c0003t0036	a0001c0003t0001g0164 a0001c0003t0036g0037 a0001c0003t0001g0164 a0001c0003t0036g0037	2	182	0.0110	20	c.802 others(39): Show c.802-12679_802-12660dupAGATAGATAGATAGATAGAT	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	8/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW2_chr2_196189072_196598554	196273049	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03209.hp2 HG02109.hp2 HG03209.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0007 a0001c0005t0008g0097 a0001c0005t0008g0007 a0001c0005t0008g0097	2	112	0.0179	20	c.323 others(37): Show c.3238+952_3238+971dupAAAAAAAAAAAAAAAAAAAA	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	16/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196278131	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02809.hp1 HG03834.hp2 others(1): Show HG01358.hp2 HG02809.hp1 HG03834.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0013 a0001c0002 a0001c0013	a0001c0002t0001 a0001c0002t0031 a0001c0013t0008 a0001c0002t0001 a0001c0002t0031 a0001c0013t0008	a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0031g0042 others(1): Show a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0031g0042 a0001c0013t0008g0020	4	112	0.0357	20	c.313 others(37): Show c.3135+396_3135+397insATATATATATATATATATAT	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	15/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196278133	A A	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02897.hp2 HG03098.hp2 HG02630.hp2 HG02897.hp2 HG03098.hp2	a0001 a0005 a0001 a0005	a0001c0005 a0001c0023 a0005c0022 a0001c0005 a0001c0023 a0005c0022	a0001c0005t0012 a0001c0023t0004 a0005c0022t0008 a0001c0005t0012 a0001c0023t0004 a0005c0022t0008	a0001c0005t0012g0056 a0001c0023t0004g0016 a0005c0022t0008g0017 a0001c0005t0012g0056 a0001c0023t0004g0016 a0005c0022t0008g0017	3	112	0.0268	20	c.313 others(37): Show c.3135+394_3135+395insATATATATATTTTTTTTTTT	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	15/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196423684	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02109.hp1 HG02258.hp1 others(7): Show HG01361.hp2 HG02109.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG03130.hp1 HG03453.hp1 HG03540.hp1 HG06807.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0012 a0002c0025	a0001c0001t0025 a0001c0002t0024 a0001c0003t0009 others(7): Show a0001c0001t0025 a0001c0002t0024 a0001c0003t0009 a0001c0003t0022 a0001c0006t0002 a0001c0006t0005 a0001c0006t0011 a0002c0012t0002 a0002c0012t0004 a0002c0025t0009	a0001c0001t0025g0021 a0001c0002t0024g0085 a0001c0003t0009g0073 others(7): Show a0001c0001t0025g0021 a0001c0002t0024g0085 a0001c0003t0009g0073 a0001c0003t0022g0100 a0001c0006t0002g0092 a0001c0006t0005g0096 a0001c0006t0011g0098 a0002c0012t0002g0064 a0002c0012t0004g0095 a0002c0025t0009g0094	10	112	0.0893	20	c.292 others(37): Show c.292+9428_292+9447dupCACACACACACACACACACA	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	2/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196569340	T T	TCTAAACT others(13): Show TCTAAACTAAACTAAACTAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02818.hp1 HG03041.hp1 HG02559.hp2 HG02818.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062	3	112	0.0268	20	c.-36 others(39): Show c.-36+24148_-36+24167dupTTTAGTTTAGTTTAGTTTAG	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	1/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196569371	C C	CTAAACTA others(13): Show CTAAACTAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0006 a0001c0002t0004g0006	1	112	0.0089	20	c.-36 others(39): Show c.-36+24136_-36+24137insTTTTATTTTATTTTAGTTTA	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	1/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196569371	C C	CTAAACTA others(13): Show CTAAACTAAACTAAAATAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02735.hp2 HG02738.hp2 others(6): Show HG02683.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG03041.hp2 HG03491.hp1 HG03492.hp2 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0021	a0001c0001t0001 a0001c0001t0014 a0001c0001t0027 others(5): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0027 a0001c0002t0001 a0001c0002t0014 a0001c0002t0015 a0001c0005t0004 a0001c0021t0030	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0014g0005 others(6): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0014g0005 a0001c0001t0027g0032 a0001c0002t0001g0003 a0001c0002t0014g0004 a0001c0002t0015g0011 a0001c0005t0004g0031 a0001c0021t0030g0002	9	112	0.0804	20	c.-36 others(39): Show c.-36+24136_-36+24137insTTTTATTTTAGTTTAGTTTA	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	1/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196569371	C C	CTAAACTA others(13): Show CTAAACTAAACTAAACTAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01358.hp1 HG01361.hp1 others(1): Show HG01169.hp2 HG01358.hp1 HG01361.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0019 a0001c0002 a0001c0006 a0001c0019	a0001c0002t0001 a0001c0002t0006 a0001c0006t0010 others(1): Show a0001c0002t0001 a0001c0002t0006 a0001c0006t0010 a0001c0019t0001	a0001c0002t0001g0104 a0001c0002t0006g0102 a0001c0006t0010g0083 others(1): Show a0001c0002t0001g0104 a0001c0002t0006g0102 a0001c0006t0010g0083 a0001c0019t0001g0103	4	112	0.0357	20	c.-36 others(39): Show c.-36+24136_-36+24137insTTTTAGTTTAGTTTAGTTTA	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	1/28			chr2	TogoVar
HEG1_chr3_124960710_125060997	124987924	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02818.hp1 others(2): Show HG01891.hp1 HG02055.hp1 HG02818.hp1 HG03098.hp1 HG03834.hp2	a0004 a0011 a0019 others(2): Show a0004 a0011 a0019 a0027 a0030	a0004c0081 a0011c0008 a0019c0023 others(2): Show a0004c0081 a0011c0008 a0019c0023 a0027c0032 a0030c0059	a0004c0081t0116 a0011c0008t0004 a0019c0023t0031 others(2): Show a0004c0081t0116 a0011c0008t0004 a0019c0023t0031 a0027c0032t0065 a0030c0059t0058	a0004c0081t0116g0246 a0011c0008t0004g0238 a0019c0023t0031g0193 others(2): Show a0004c0081t0116g0246 a0011c0008t0004g0238 a0019c0023t0031g0193 a0027c0032t0065g0011 a0030c0059t0058g0221	5	362	0.0138	20	c.373 others(39): Show c.3733+2843_3733+2862dupGTGTGTGTGTGTGTGTGTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(13): Show CACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp1 HG02258.hp2 others(11): Show HG00621.hp1 HG00642.hp1 HG02258.hp2 HG02273.hp1 HG02965.hp2 HG03139.hp2 HG03491.hp1 NA18942.hp1 NA18946.hp2 NA18977.hp2 NA19054.hp2 NA19056.hp2 NA19079.hp2 NA20129.hp2	a0001 a0004 a0007 others(6): Show a0001 a0004 a0007 a0010 a0011 a0015 a0018 a0049 a0056	a0001c0001 a0004c0048 a0007c0011 others(6): Show a0001c0001 a0004c0048 a0007c0011 a0010c0022 a0011c0008 a0015c0017 a0018c0088 a0049c0051 a0056c0092	a0001c0001t0008 a0001c0001t0047 a0001c0001t0062 others(10): Show a0001c0001t0008 a0001c0001t0047 a0001c0001t0062 a0001c0001t0093 a0001c0001t0101 a0004c0048t0029 a0007c0011t0011 a0010c0022t0062 a0011c0008t0027 a0015c0017t0041 a0018c0088t0010 a0049c0051t0023 a0056c0092t0133	a0001c0001t0008g0294 a0001c0001t0047g0122 a0001c0001t0047g0123 others(11): Show a0001c0001t0008g0294 a0001c0001t0047g0122 a0001c0001t0047g0123 a0001c0001t0062g0280 a0001c0001t0093g0162 a0001c0001t0101g0121 a0004c0048t0029g0023 a0007c0011t0011g0124 a0010c0022t0062g0231 a0011c0008t0027g0237 a0015c0017t0041g0152 a0018c0088t0010g0177 a0049c0051t0023g0021 a0056c0092t0133g0316	14	362	0.0387	20	c.373 others(39): Show c.3733+2834_3733+2835insATGTGTGTGTGTGTGTGTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(13): Show CACACACACACACACACATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18939.hp2 NA18999.hp2 HG02486.hp1 NA18939.hp2 NA18999.hp2	a0004 a0013 a0015 a0004 a0013 a0015	a0004c0005 a0013c0040 a0015c0017 a0004c0005 a0013c0040 a0015c0017	a0004c0005t0028 a0013c0040t0059 a0015c0017t0045 a0004c0005t0028 a0013c0040t0059 a0015c0017t0045	a0004c0005t0028g0259 a0013c0040t0059g0315 a0015c0017t0045g0131 a0004c0005t0028g0259 a0013c0040t0059g0315 a0015c0017t0045g0131	3	362	0.0083	20	c.373 others(39): Show c.3733+2834_3733+2835insATATGTGTGTGTGTGTGTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(13): Show CACACACACACACACATATAT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0068 a0001c0001t0010g0068	1	362	0.0028	20	c.373 others(39): Show c.3733+2834_3733+2835insATATATGTGTGTGTGTGTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(13): Show CACACACACACATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0201 a0001c0002t0032g0201	1	362	0.0028	20	c.373 others(39): Show c.3733+2834_3733+2835insATATATATATGTGTGTGTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HELLS_chr10_94540788_94607099	94542167	G G	GGGATTAC others(13): Show GGGATTACAGACATGAGCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0292 a0001c0002t0001g0292	1	358	0.0028	20	c.-37 others(31): Show c.-3755_-3754insGGATTACAGACATGAGCCAC	HELLS	ENSG00000119969.16	transcript	ENST00000348459.10	protein_coding		3620		chr10	TogoVar
HELQ_chr4_83402346_83460823	83405907	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0002 a0012c0014t0002	a0012c0014t0002g0253 a0012c0014t0002g0253	1	316	0.0032	20	c.15 others(31): Show c.1545_*1546insTTTTTTTTTTTTTTTTTTTT	HELQ	ENSG00000163312.11	transcript	ENST00000295488.8	protein_coding		1438		chr4	TogoVar

Search by Variant

Search

Search Results