JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
HS3ST4_chr16_25686959_26142685	25903302	G G	GTATATGT others(20): Show GTATATGTATATGTATATATTATATACA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	164	0.0061	27	c.734 others(48): Show c.734+210154_734+210155insATGTATATGTATATATTATATACA TAT		HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25903302	G G	GTGTATGT others(20): Show GTGTATGTATATGTATATATTATATACA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03942.hp2 NA18970.hp2 others(1): Show HG03098.hp2 HG03942.hp2 NA18970.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0033 a0001c0001t0001 a0001c0001t0012 a0001c0001t0033	a0001c0001t0001g0005 a0001c0001t0001g0059 a0001c0001t0012g0026 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0059 a0001c0001t0012g0026 a0001c0001t0033g0129	4	164	0.0244	27	c.734 others(48): Show c.734+210152_734+210153insGTATGTATATGTATATATTATATA CAT		HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25999884	A A	ATATATAT others(20): Show ATATATATATTATATATTTTATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp1 HG00642.hp2 others(16): Show HG00438.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01074.hp2 HG01261.hp2 HG01516.hp2 HG03017.hp2 HG03239.hp2 HG04184.hp1 NA18747.hp2 NA18981.hp2 NA18992.hp1 NA19009.hp1 NA19012.hp1 NA19057.hp2 NA19083.hp1 NA19088.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0001t0020 a0001c0001t0022 a0001c0001t0029 a0001c0001t0036 a0001c0001t0040 a0001c0001t0041	a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0001g0063 others(16): Show a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0001g0063 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0002g0111 a0001c0001t0004g0086 a0001c0001t0004g0098 a0001c0001t0005g0069 a0001c0001t0006g0007 a0001c0001t0015g0093 a0001c0001t0020g0097 a0001c0001t0022g0143 a0001c0001t0029g0027 a0001c0001t0036g0018 a0001c0001t0040g0043 a0001c0001t0041g0055	19	164	0.1159	27	c.735 others(48): Show c.735-135719_735-135718insTATATATTTTATATATATTATATA TAT		HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST5_chr6_114050596_114348023	114338303	C C	CACATTGT others(20): Show CACATTGTGTATATATATACATACATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01993.hp2 HG02145.hp1 others(4): Show HG00735.hp2 HG01993.hp2 HG02145.hp1 HG02258.hp2 HG02602.hp1 HG03209.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0011 a0001c0001t0015 others(2): Show a0001c0001t0007 a0001c0001t0011 a0001c0001t0015 a0001c0001t0029 a0001c0002t0010	a0001c0001t0007g0040 a0001c0001t0007g0046 a0001c0001t0011g0042 others(4): Show a0001c0001t0007g0040 a0001c0001t0007g0046 a0001c0001t0011g0042 a0001c0001t0015g0038 a0001c0001t0015g0039 a0001c0001t0029g0043 a0001c0002t0010g0041	7	206	0.0340	27	c.-33 others(46): Show c.-339+3865_-339+3891dupATATGTATGTATATATATACACAATG T		HS3ST5	ENSG00000249853.9	transcript	ENST00000312719.10	protein_coding	1/4						chr6	TogoVar
HS6ST2_chrX_132621015_132963629	132637853	A A	ATTATATA others(20): Show ATTATATATAATATATTATATATAATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	201	0.0050	27	c.106 others(46): Show c.1068-8761_1068-8760insATATTATATATAATATATTATATATA A		HS6ST2	ENSG00000171004.19	transcript	ENST00000370833.7	protein_coding	4/4						chrX	TogoVar
HS6ST3_chr13_96085107_96844562	96304712	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	116	0.0086	27	c.707 others(48): Show c.707+213145_707+213146insCTTTCTTTCTTTCTTTCTTTCTTT CTT		HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr13	TogoVar
HSCB_chr22_28737039_28762510	28750945	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	410	0.0024	27	c.569 others(42): Show c.569-272_569-271insTTTTTTTTTTTTTTTTTTTTTTTTTTT		HSCB	ENSG00000100209.11	transcript	ENST00000216027.8	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr22	TogoVar
HSD17B14_chr19_48808018_48841491	48816779	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	394	0.0025	27	c.370 others(44): Show c.370-1639_370-1638insGAAAGAAAGAAAGAAAGAAAGAAAGAA		HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8						chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48816824	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	394	0.0025	27	c.370 others(44): Show c.370-1684_370-1683insGAAAGAAAGAAAGAAAGAAAGAAAGAA		HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8						chr19	TogoVar
HSD17B3_chr9_96230306_96307176	96272375	C C	CTCTCTCT others(20): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	374	0.0027	27	c.202 others(46): Show c.202-17433_202-17432insTGAGAGAGAGAGAGAGAGAGAGAGAG A		HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10						chr9	TogoVar
HSD3B2_chr1_119410150_119428034	119412876	G G	GAGTCTAG others(20): Show GAGTCTAGAAATGTTACTAAAAATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	442	0.0023	27	c.-24 others(38): Show c.-2416_-2415insAGTCTAGAAATGTTACTAAAAATAGAT		HSD3B2	ENSG00000203859.10	transcript	ENST00000369416.4	protein_coding					2273		chr1	TogoVar
HSDL1_chr16_84117141_84150177	84148596	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG03710.hp2 NA18954.hp1 others(1): Show HG00140.hp1 HG03710.hp2 NA18954.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0002g0103 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0002g0103 a0001c0001t0002g0284	4	448	0.0089	27	c.-35 others(38): Show c.-3586_-3585insAAAAAAAAAAAAAAAAAAAAAAAAAAA		HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding					3420		chr16	TogoVar
HSF1_chr8_144286604_144319720	144313775	G G	GCCTCCCC others(20): Show GCCTCCCCGCCTCCCCGCCTCCCCGCCT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	330	0.0030	27	c.124 others(42): Show c.1249-69_1249-68insTCCCCGCCTCCCCGCCTCCCCGCCTCC		HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr8	TogoVar
HSF5_chr17_58415167_58493408	58476235	C C	CTCTTCAT others(20): Show CTCTTCATCATCATCATCTTCTTCTCCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG06807.hp2 HG02451.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0012 a0001c0001t0005g0013	2	332	0.0060	27	c.925 others(44): Show c.925+3631_925+3657dupAGGAGAAGAAGATGATGATGATGAAGA		HSF5	ENSG00000176160.11	transcript	ENST00000323777.8	protein_coding	2/5						chr17	TogoVar
HSPA12A_chr10_116666192_116747566	116696002	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	320	0.0031	27	c.546 others(44): Show c.546+2632_546+2633insTTTTTTTTTTTTTTTTTTTTTTTTTTT		HSPA12A	ENSG00000165868.16	transcript	ENST00000369209.8	protein_coding	5/11						chr10	TogoVar
HSPA12A_chr10_116666192_116747566	116713011	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA19090.hp1 HG02970.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0261 a0001c0001t0001g0154 a0001c0001t0001g0261	2	320	0.0063	27	c.41- others(42): Show c.41-5727_41-5726insTATATATATATATATATATATATATAT		HSPA12A	ENSG00000165868.16	transcript	ENST00000369209.8	protein_coding	1/11						chr10	TogoVar
HSPA4_chr5_133047013_133111449	133085489	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02970.hp2 HG03486.hp2 HG02572.hp1 HG02970.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0065 a0001c0001t0067 a0001c0001t0064 a0001c0001t0065 a0001c0001t0067	a0001c0001t0064g0018 a0001c0001t0065g0150 a0001c0001t0067g0017 a0001c0001t0064g0018 a0001c0001t0065g0150 a0001c0001t0067g0017	3	364	0.0082	27	c.909 others(44): Show c.909-1280_909-1279insAAAAAAAAAAAAAAAAAAAAAAAAAAA		HSPA4	ENSG00000170606.16	transcript	ENST00000304858.7	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr5	TogoVar
HSPA9_chr5_138548756_138580401	138553611	C C	CAAAAACC others(20): Show CAAAAACCAAAAGAACAAACAAAACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(184): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18964.hp2 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19056.hp2 NA19063.hp2 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp2 NA19085.hp2 NA19088.hp2 NA19089.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0002c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(20): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0006 a0001c0003t0008 a0001c0003t0010 a0001c0003t0011 a0001c0003t0012 a0001c0003t0013 a0001c0003t0015 a0001c0003t0016 a0001c0004t0008 a0001c0006t0001 a0002c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(131): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0005g0055 a0001c0001t0005g0056 a0001c0001t0005g0057 a0001c0001t0005g0091 a0001c0001t0005g0092 a0001c0001t0005g0119 a0001c0001t0007g0203 a0001c0001t0007g0204 a0001c0001t0007g0205 a0001c0001t0007g0206 a0001c0001t0007g0207 a0001c0001t0009g0023 a0001c0001t0009g0071 a0001c0001t0009g0102 a0001c0001t0019g0068 a0001c0001t0020g0099 a0001c0001t0022g0069 a0001c0001t0023g0094 a0001c0001t0024g0058 a0001c0003t0001g0022 a0001c0003t0001g0025 a0001c0003t0001g0081 a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0003t0001g0087 a0001c0003t0001g0103 a0001c0003t0001g0107 a0001c0003t0001g0108 a0001c0003t0001g0110 a0001c0003t0001g0111 a0001c0003t0001g0112 a0001c0003t0001g0114 a0001c0003t0001g0118 a0001c0003t0001g0123 a0001c0003t0001g0124 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0128 a0001c0003t0001g0131 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0003g0027 a0001c0003t0003g0133 a0001c0003t0003g0135 a0001c0003t0003g0136 a0001c0003t0003g0137 a0001c0003t0003g0138 a0001c0003t0003g0139 a0001c0003t0004g0018 a0001c0003t0004g0039 a0001c0003t0004g0041 a0001c0003t0004g0046 a0001c0003t0004g0047 a0001c0003t0006g0033 a0001c0003t0006g0196 a0001c0003t0006g0197 a0001c0003t0006g0198 a0001c0003t0008g0036 a0001c0003t0008g0040 a0001c0003t0010g0037 a0001c0003t0010g0042 a0001c0003t0010g0044 a0001c0003t0011g0034 a0001c0003t0011g0035 a0001c0003t0012g0052 a0001c0003t0012g0053 a0001c0003t0013g0166 a0001c0003t0013g0191 a0001c0003t0015g0134 a0001c0003t0016g0132 a0001c0004t0008g0043 a0001c0004t0008g0045 a0001c0006t0001g0117 a0002c0007t0001g0202	187	302	0.6192	27	c.24 others(38): Show c.2425_*2426insTGTGTTTTGTTTGTTCTTTTGGTTTTT		HSPA9	ENSG00000113013.16	transcript	ENST00000297185.9	protein_coding					144		chr5	TogoVar
HTR2C_chrX_114579086_114915061	114741524	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA20129.hp2 NA20805.hp1 NA18977.hp1 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0019g0137 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0019g0137	3	176	0.0171	27	c.349 others(44): Show c.349+9942_349+9943insAAAAAAAAAAAAAAAAAAAAAAAAAAA		HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chrX	TogoVar
HTRA3_chr4_8264754_8312098	8310949	T T	TGCAGCCA others(20): Show TGCAGCCATCAGTGAGCCCTGCACCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	388	0.0026	27	c.48 others(38): Show c.4813_*4814insGCAGCCATCAGTGAGCCCTGCACCCAC		HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding					3852		chr4	TogoVar
HTRA3_chr4_8264754_8312098	8310957	T T	TCACTGAG others(20): Show TCACTGAGCCCTGCACCCACGCAGCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp2 HG03516.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0330 a0001c0001t0001g0177 a0001c0001t0001g0330	2	388	0.0052	27	c.48 others(38): Show c.4821_*4822insCACTGAGCCCTGCACCCACGCAGCCAC		HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding					3860		chr4	TogoVar
HTRA3_chr4_8264754_8312098	8310964	T T	TCCCTGCA others(20): Show TCCCTGCACCCACGCAGCCATCACTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG03041.hp2 HG03471.hp1 HG02809.hp2 HG03041.hp2 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0016 a0002c0002t0010 a0001c0001t0001 a0001c0001t0016 a0002c0002t0010	a0001c0001t0001g0032 a0001c0001t0016g0131 a0002c0002t0010g0059 a0001c0001t0001g0032 a0001c0001t0016g0131 a0002c0002t0010g0059	3	388	0.0077	27	c.48 others(38): Show c.4828_*4829insCCCTGCACCCACGCAGCCATCACTGAG		HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding					3867		chr4	TogoVar
HTT_chr4_3069681_3248957	3074876	C C	CCAGCAGC others(20): Show CCAGCAGCAGCAGCAGCAGCAGCAGCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01071.hp1 HG01081.hp1 homoSapiens_chm13v2.hp1 HG01071.hp1 HG01081.hp1 homoSapiens_chm13v2.hp1	a0039 a0091 a0039 a0091	a0039c0043 a0091c0127 a0039c0043 a0091c0127	a0039c0043t0001 a0039c0043t0004 a0091c0127t0004 a0039c0043t0001 a0039c0043t0004 a0091c0127t0004	a0039c0043t0001g0078 a0039c0043t0004g0073 a0091c0127t0004g0063 a0039c0043t0001g0078 a0039c0043t0004g0073 a0091c0127t0004g0063	3	294	0.0102	27	c.84_ others(33): Show c.84_110dupGCAGCAGCAGCAGCAGCAGCAGCAGCA	p.Gln others(11): Show p.Gln29_Gln37dup	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	1/67	256/13472	111/9429	37/3142		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTT_chr4_3069681_3248957	3074935	A A	AGCAGCAG others(20): Show AGCAGCAGCAGCAGCAGCAACAGCCGCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00738.hp1 HG00738.hp1	a0088 a0088	a0088c0120 a0088c0120	a0088c0120t0017 a0088c0120t0017	a0088c0120t0017g0201 a0088c0120t0017g0201	1	294	0.0034	27	c.110 others(34): Show c.110_111insGCAGCAGCAGCAGCAGCAACAGCCGCC	p.Gln others(38): Show p.Gln37_Gln38insGlnGlnGlnGlnGlnGlnGlnProPro	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	1/67	256/13472	111/9429	37/3142			chr4	TogoVar
HTT_chr4_3069681_3248957	3093905	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0049 a0049	a0049c0063 a0049c0063	a0049c0063t0011 a0049c0063t0011	a0049c0063t0011g0203 a0049c0063t0011g0203	1	294	0.0034	27	c.348 others(44): Show c.348-5345_348-5344insTTTTTTTTTTTTTTTTTTTTTTTTTTT		HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	2/66					INFO_REALIGN_3_PRIME	chr4	TogoVar
HUNK_chr21_31868020_32009064	31900479	A A	ACACACAC others(20): Show ACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0235 a0002c0003t0003g0235	1	328	0.0031	27	c.262 others(46): Show c.262-23989_262-23988insCACACACACACACACACACACACACA C		HUNK	ENSG00000142149.9	transcript	ENST00000270112.7	protein_coding	1/10						chr21	TogoVar
HUS1B_chr6_650939_662100	658629	A A	AATATATA others(20): Show AATATATATATATATTTTATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	432	0.0023	27	c.-17 others(38): Show c.-1712_-1686dupATATATATATAAAATATATATATATAT		HUS1B	ENSG00000188996.5	transcript	ENST00000380907.3	protein_coding					1530		chr6	TogoVar
HUS1B_chr6_650939_662100	658645	T T	TTATATAT others(20): Show TTATATATATATATATATATATATTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	432	0.0023	27	c.-17 others(38): Show c.-1702_-1701insTAAAATATATATATATATATATATATA		HUS1B	ENSG00000188996.5	transcript	ENST00000380907.3	protein_coding					1546		chr6	TogoVar
HYAL4_chr7_123840169_123882481	123849942	C C	CTATATTT others(20): Show CTATATTTCTCATATGTTTTATCTTACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00558.hp1 others(49): Show HG00099.hp2 HG00408.hp2 HG00558.hp1 HG00621.hp1 HG00673.hp2 HG00738.hp2 HG01099.hp1 HG01516.hp1 HG01884.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02145.hp2 HG02148.hp1 HG02559.hp1 HG02738.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03490.hp2 HG03492.hp2 HG03579.hp1 HG03942.hp2 HG04228.hp2 NA18612.hp1 NA18939.hp2 NA18945.hp2 NA18948.hp1 NA18949.hp1 NA18955.hp1 NA18960.hp1 NA18968.hp1 NA18970.hp2 NA18989.hp1 NA18993.hp2 NA19001.hp1 NA19007.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp2 NA19072.hp2 NA19080.hp1 NA19084.hp1 NA19086.hp2 NA20129.hp1 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0002c0002t0002 a0003c0003t0004 a0003c0003t0006	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0002g0009 others(27): Show a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0005g0001 a0001c0001t0005g0009 a0001c0001t0005g0028 a0001c0001t0005g0070 a0001c0001t0006g0067 a0001c0001t0006g0068 a0001c0001t0010g0065 a0002c0002t0002g0066 a0003c0003t0004g0055 a0003c0003t0004g0056 a0003c0003t0004g0057 a0003c0003t0004g0060 a0003c0003t0006g0058 a0003c0003t0006g0059	52	394	0.1320	27	c.-52 others(44): Show c.-52+1787_-52+1813dupTATTTCTCATATGTTTTATCTTACATA		HYAL4	ENSG00000106302.10	transcript	ENST00000223026.9	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr7	TogoVar
HYDIN_chr16_70797084_71235722	70902821	A A	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0001 a0002c0021t0001	a0002c0021t0001g0093 a0002c0021t0001g0093	1	174	0.0058	27	c.884 others(44): Show c.8849+803_8849+804insAAAAAAAAAAAAATATATATATATATA		HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85						chr16	TogoVar
HYDIN_chr16_70797084_71235722	70902821	A A	ATATATAT others(20): Show ATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0017 a0002c0010t0017	a0002c0010t0017g0150 a0002c0010t0017g0150	1	174	0.0058	27	c.884 others(44): Show c.8849+803_8849+804insAAAAAAAAAAAAAAATATATATATATA		HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85						chr16	TogoVar
HYDIN_chr16_70797084_71235722	70902821	A A	ATATATAT others(20): Show ATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18978.hp1 HG03669.hp1 NA18978.hp1	a0002 a0011 a0002 a0011	a0002c0043 a0011c0028 a0002c0043 a0011c0028	a0002c0043t0002 a0011c0028t0001 a0002c0043t0002 a0011c0028t0001	a0002c0043t0002g0011 a0011c0028t0001g0134 a0002c0043t0002g0011 a0011c0028t0001g0134	2	174	0.0115	27	c.884 others(44): Show c.8849+803_8849+804insAAAAAAAAAAAAAAAAAAATATATATA		HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85						chr16	TogoVar
HYDIN_chr16_70797084_71235722	70902822	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0036 a0036	a0036c0075 a0036c0075	a0036c0075t0010 a0036c0075t0010	a0036c0075t0010g0075 a0036c0075t0010g0075	1	174	0.0058	27	c.884 others(44): Show c.8849+802_8849+803insTATATATATATATATATATATATATAT		HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85						chr16	TogoVar
ICAM2_chr17_63997595_64025633	64014330	G G	GGAAGGAA others(20): Show GGAAGGAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	392	0.0026	27	c.-45 others(44): Show c.-45+6192_-45+6193insTTTCTTTCTTTCTTTCTTTCTTCCTTC		ICAM2	ENSG00000108622.11	transcript	ENST00000579788.6	protein_coding	1/4						chr17	TogoVar
IDE_chr10_92446684_92579093	92552857	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0243 a0001c0001t0005g0243	1	314	0.0032	27	c.99- others(44): Show c.99-15308_99-15307insTTTTTTTTTTTTTTTTTTTTTTTTTTT		IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	1/24						chr10	TogoVar
IDH3A_chr15_78144362_78176945	78158463	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0101 a0001c0002t0005g0101	1	386	0.0026	27	c.174 others(42): Show c.174+833_174+834insATATATATATATATATATATATATATT		IDH3A	ENSG00000166411.14	transcript	ENST00000299518.7	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr15	TogoVar
IDH3A_chr15_78144362_78176945	78158464	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02738.hp2 HG06807.hp2 HG01123.hp2 HG02738.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0111 a0001c0002t0002g0125 a0001c0002t0005g0098 a0001c0002t0002g0111 a0001c0002t0002g0125 a0001c0002t0005g0098	3	386	0.0078	27	c.174 others(42): Show c.174+833_174+834insATATATATATATATATATATATATATA		IDH3A	ENSG00000166411.14	transcript	ENST00000299518.7	protein_coding	3/10						chr15	TogoVar
IDO2_chr8_39929651_40021392	39995185	T T	TCTCCTTC others(20): Show TCTCCTTCTCCTTCTCCTTCTCCTTCTC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0214 a0001c0001t0006g0214	1	360	0.0028	27	c.667 others(44): Show c.667+5349_667+5350insCCTTCTCCTTCTCCTTCTCCTTCTCCT		IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39995251	C C	CCTTCTCC others(20): Show CCTTCTCCTTCTCCTTCTCCTTCTCCTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02071.hp2 HG00609.hp2 HG02071.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0007 a0004c0004t0010 a0001c0001t0007 a0004c0004t0010	a0001c0001t0007g0236 a0004c0004t0010g0237 a0001c0001t0007g0236 a0004c0004t0010g0237	2	360	0.0056	27	c.667 others(44): Show c.667+5418_667+5419insCCTTCTCCTTCTCCTTCTCCTTCTTCT		IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39995251	C C	CCTTCTCC others(20): Show CCTTCTCCTTCTCCTTCTCCTTCTTCTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18991.hp1 NA18906.hp2 NA18991.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0008 a0001c0001t0001 a0002c0002t0008	a0001c0001t0001g0295 a0002c0002t0008g0018 a0001c0001t0001g0295 a0002c0002t0008g0018	2	360	0.0056	27	c.667 others(44): Show c.667+5418_667+5419insCCTTCTCCTTCTCCTTCTTCTTCTTCT		IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39995251	C C	CCTTCTCC others(20): Show CCTTCTCCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01192.hp2 HG01175.hp1 HG01192.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0008 a0005c0005t0002 a0002c0002t0008 a0005c0005t0002	a0002c0002t0008g0024 a0005c0005t0002g0020 a0002c0002t0008g0024 a0005c0005t0002g0020	2	360	0.0056	27	c.667 others(44): Show c.667+5418_667+5419insCCTTCTTCTTCTTCTTCTTCTTCTTCT		IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39995254	T T	TCTCCTTC others(20): Show TCTCCTTCTCCTTCTCCTTCTCCTTCTC	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA19075.hp1 HG03688.hp2 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0343 a0001c0001t0011g0067 a0001c0001t0001g0343 a0001c0001t0011g0067	2	360	0.0056	27	c.667 others(44): Show c.667+5418_667+5419insCCTTCTCCTTCTCCTTCTCCTTCTCCT		IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39995268	T T	TTCTTCTT others(20): Show TTCTTCTTCCTCTTCTTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG03130.hp2 HG00733.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0140 a0001c0001t0004g0139 a0001c0001t0001g0140 a0001c0001t0004g0139	2	360	0.0056	27	c.667 others(44): Show c.667+5438_667+5439insCTCTTCTTCTTCTTCTTCCTCTTCTTC		IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39995268	T T	TTCTTCTT others(20): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0126 a0001c0001t0012g0126	1	360	0.0028	27	c.667 others(44): Show c.667+5452_667+5453insCTTCCTCTTCTTCTTCTTCTTCTTCTT		IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39995274	T T	TTCTTCTT others(20): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18977.hp2 HG03704.hp1 NA18977.hp2	a0002 a0014 a0002 a0014	a0002c0002 a0014c0018 a0002c0002 a0014c0018	a0002c0002t0005 a0014c0018t0001 a0002c0002t0005 a0014c0018t0001	a0002c0002t0005g0327 a0014c0018t0001g0309 a0002c0002t0005g0327 a0014c0018t0001g0309	2	360	0.0056	27	c.667 others(44): Show c.667+5452_667+5453insCTTCTTCTTCCTCTTCTTCTTCTTCTT		IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
IFI27L2_chr14_94122781_94134604	94124920	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 NA18950.hp2 NA19060.hp2 others(2): Show HG02109.hp1 NA18950.hp2 NA19060.hp2 NA19066.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0005	5	433	0.0116	27	c.28 others(38): Show c.2878_*2879insAAAAAAAAAAAAAAAAAAAAAAAAAAA		IFI27L2	ENSG00000119632.4	transcript	ENST00000238609.4	protein_coding					2860		chr14	TogoVar
IFIH1_chr2_162262074_162323684	162274013	G G	GAAATAAT others(20): Show GAAATAATAAATTGCAACTGGTCAGTGT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0168 a0003c0002t0001g0168	1	220	0.0046	27	c.230 others(42): Show c.2305-96_2305-70dupACACTGACCAGTTGCAATTTATTATTT		IFIH1	ENSG00000115267.10	transcript	ENST00000649979.2	protein_coding	11/15						chr2	TogoVar
IFIH1_chr2_162262074_162323684	162314416	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0141 a0002c0001t0001g0141	1	220	0.0046	27	c.453 others(44): Show c.453+3438_453+3439insGAAAGAAAGAAAGAAAGAAAGAAAGAA		IFIH1	ENSG00000115267.10	transcript	ENST00000649979.2	protein_coding	1/15						chr2	TogoVar
IFITM10_chr11_1727406_1755595	1754358	G G	GGAGGGAT others(20): Show GGAGGGATGGAGGGGATGGAGGGGCATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG02300.hp2 NA18961.hp1 others(2): Show HG01993.hp2 HG02300.hp2 NA18961.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0003 a0001c0001t0002g0182 a0001c0001t0003g0033 others(1): Show a0001c0001t0002g0003 a0001c0001t0002g0182 a0001c0001t0003g0033 a0001c0001t0003g0034	5	406	0.0123	27	c.-39 others(38): Show c.-3943_-3917dupTATGCCCCTCCATCCCCTCCATCCCTC		IFITM10	ENSG00000244242.2	transcript	ENST00000340134.5	protein_coding					3764		chr11	TogoVar
IFNA8_chr9_21404117_21415185	21411943	T T	TATTCATG others(20): Show TATTCATGACATCTTTATAATGTAGTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	458	0.0022	27	c.21 others(38): Show c.2197_*2198insATTCATGACATCTTTATAATGTAGTAA		IFNA8	ENSG00000120242.4	transcript	ENST00000380205.2	protein_coding					1759		chr9	TogoVar

Search by Variant

Search

Search Results (Total: 7463 hits)