Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
HABP4_chr9_96445169_96496336	96456770	AAAAAAAA others(21): Show AAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	306	0.0033	-28	c.350 others(45): Show c.350-1607_350-1580delAAAAAAAAAATATATATATATATATATA	HABP4	ENSG00000130956.14	transcript	ENST00000375249.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
HABP4_chr9_96445169_96496336	96456774	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0135 a0001c0001t0010g0135	1	306	0.0033	-28	c.350 others(45): Show c.350-1603_350-1576delAAAAAATATATATATATATATATATATA	HABP4	ENSG00000130956.14	transcript	ENST00000375249.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
HACD3_chr15_65525463_65583349	65537946	AAAAAAAA others(21): Show AAAAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG03130.hp1 HG00609.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0166 a0001c0001t0004g0020 a0001c0001t0001g0166 a0001c0001t0004g0020	2	328	0.0061	-28	c.87+ others(43): Show c.87+7230_87+7257delAAAAAAAAAAAATATATATATATATATA	HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
HACD3_chr15_65525463_65583349	65537948	AAAAAAAA others(21): Show AAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp1 HG02040.hp1 others(4): Show HG00544.hp1 HG00621.hp1 HG02040.hp1 NA18949.hp1 NA19004.hp1 NA19006.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 others(4): Show a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0170 a0001c0001t0001g0282 a0001c0001t0004g0018	7	328	0.0213	-28	c.87+ others(43): Show c.87+7232_87+7259delAAAAAAAAAATATATATATATATATATA	HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
HACD3_chr15_65525463_65583349	65537950	AAAAAAAA others(21): Show AAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	328	0.0031	-28	c.87+ others(43): Show c.87+7234_87+7261delAAAAAAAATATATATATATATATATATA	HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
HACD3_chr15_65525463_65583349	65537952	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	328	0.0031	-28	c.87+ others(43): Show c.87+7236_87+7263delAAAAAATATATATATATATATATATATA	HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
HACE1_chr6_104723094_104864919	104727373	GAATATAT others(21): Show GAATATATATACACATGTATATGTATACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01074.hp2 HG01081.hp2 others(56): Show HG00323.hp2 HG01074.hp2 HG01081.hp2 HG01167.hp2 HG01168.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01952.hp1 HG01993.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03130.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03942.hp2 HG04115.hp1 NA18906.hp1 NA18942.hp1 NA19030.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0008 a0001c0001t0001 a0001c0002t0001 a0001c0002t0008	a0001c0001t0001g0001 a0001c0001t0001g0218 a0001c0001t0001g0219 others(55): Show a0001c0001t0001g0001 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0123 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0008g0344	59	346	0.1705	-28	c.22 others(39): Show c.2261_*2288delTGTATACATATACATGTGTATATATATT	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding		720		chr6	TogoVar
HACE1_chr6_104723094_104864919	104727667	GTATGTAT others(21): Show GTATGTATATGAATACATACACACATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00609.hp2 others(66): Show HG00408.hp1 HG00544.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01167.hp1 HG01256.hp2 HG01258.hp2 HG01361.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02165.hp1 HG02738.hp2 HG02886.hp1 HG03195.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 NA18522.hp1 NA18747.hp2 NA18939.hp2 NA18946.hp1 NA18947.hp2 NA18949.hp1 NA18957.hp1 NA18961.hp2 NA18968.hp1 NA18972.hp1 NA18973.hp2 NA18981.hp1 NA18984.hp2 NA18987.hp1 NA18990.hp2 NA18994.hp1 NA19003.hp1 NA19004.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19084.hp1 NA19086.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0153 others(66): Show a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0261 a0001c0001t0001g0325 a0001c0001t0003g0140	69	346	0.1994	-28	c.19 others(39): Show c.1967_*1994delTATATGTGTGTATGTATTCATATACATA	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding		426		chr6	TogoVar
HACE1_chr6_104723094_104864919	104727682	CATACACA others(21): Show CATACACACATATATATGTATATGAATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	346	0.0029	-28	c.19 others(39): Show c.1952_*1979delATATTCATATACATATATATGTGTGTAT	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding		411		chr6	TogoVar
HACE1_chr6_104723094_104864919	104727739	ATACACAC others(21): Show ATACACACATATATATGTATATGAATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 NA20300.hp2 HG03540.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0095 a0001c0003t0001g0228 a0001c0002t0001g0095 a0001c0003t0001g0228	2	346	0.0058	-28	c.18 others(39): Show c.1895_*1922delCATATTCATATACATATATATGTGTGTA	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding		354		chr6	TogoVar
HACE1_chr6_104723094_104864919	104831960	GAAGAGAA others(21): Show GAAGAGAAGAGAAGAGAAGAGAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	346	0.0029	-28	c.534 others(45): Show c.534+1054_534+1081delTCCTTCCTCTCTTCTCTTCTCTTCTCTT	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding	6/23			chr6	TogoVar
HACL1_chr3_15555699_15606569	15592530	ATGTATAC others(21): Show ATGTATACACATGTACGCACATGTGTGCG	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0397 a0001c0001t0002g0397	1	428	0.0023	-28	c.228 others(43): Show c.228-878_228-851delCGCACACATGTGCGTACATGTGTATACA	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HACL1_chr3_15555699_15606569	15592997	CATGTGTG others(21): Show CATGTGTGCGTGTATACACATGTACGCAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00741.hp2 others(26): Show HG00642.hp1 HG00642.hp2 HG00741.hp2 HG01071.hp2 HG01123.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG02015.hp1 HG02071.hp1 HG02083.hp1 HG02129.hp1 HG02257.hp2 HG02572.hp2 HG03139.hp2 HG03486.hp1 HG03654.hp1 HG03927.hp1 NA18747.hp2 NA18949.hp1 NA18954.hp2 NA18956.hp2 NA18965.hp1 NA18970.hp2 NA18977.hp1 NA18987.hp1 NA18993.hp2 NA19088.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0208 others(25): Show a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0311 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0377 a0001c0002t0001g0015 a0001c0002t0001g0356 a0001c0002t0001g0357 a0001c0002t0001g0358 a0001c0002t0001g0392	29	428	0.0678	-28	c.228 others(45): Show c.228-1345_228-1318delATGCGTACATGTGTATACACGCACACAT	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HADHA_chr2_26185635_26249632	26245265	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGGGTGTGTGTGGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	274	0.0037	-28	c.-69 others(37): Show c.-697_-670delGCCCACACACACCCACACACACACACAC	HADHA	ENSG00000084754.12	transcript	ENST00000380649.8	protein_coding		634		chr2	TogoVar
HADHB_chr2_26239939_26295465	26245265	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGGGTGTGTGTGGGC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0023 a0002c0002t0002g0023	1	290	0.0035	-28	c.-9+ others(41): Show c.-9+283_-9+310delTGTGTGTGGGTGTGTGTGGGCGTGTGTG	HADHB	ENSG00000138029.14	transcript	ENST00000317799.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAGH_chr16_1802629_1831825	1804246	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 NA18942.hp2 HG02080.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0057 a0001c0001t0002g0025 a0001c0001t0002g0057	2	436	0.0046	-28	c.50 others(39): Show c.5009_*5036delTATATATATATATATATATATATATATA	HAGH	ENSG00000063854.13	transcript	ENST00000397356.8	protein_coding		3382		chr16	TogoVar
HAPLN2_chr1_156614415_156630725	156615880	CCTTAAAA others(21): Show CCTTAAAAAAATTTTTAGAGATCCTATCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02630.hp1 HG02630.hp2 others(6): Show HG02280.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02970.hp2 HG03195.hp1 HG03225.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0004 a0001c0001t0002 a0002c0002t0004	a0001c0001t0002g0022 a0001c0001t0002g0061 a0002c0002t0004g0024 others(1): Show a0001c0001t0002g0022 a0001c0001t0002g0061 a0002c0002t0004g0024 a0002c0002t0004g0076	9	418	0.0215	-28	c.-38 others(39): Show c.-3820_-3793delCTTAAAAAAATTTTTAGAGATCCTATCT	HAPLN2	ENSG00000132702.13	transcript	ENST00000255039.6	protein_coding		3534		chr1	TogoVar
HARBI1_chr11_46597861_46622227	46622076	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	258	0.0039	-28	c.-51 others(39): Show c.-5125_-5098delATATATATATATATATATATATATATAT	HARBI1	ENSG00000180423.4	transcript	ENST00000326737.3	protein_coding		4850		chr11	TogoVar
HAUS8_chr19_17044729_17080452	17055143	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0308 a0001c0003t0002g0308	1	400	0.0025	-28	c.787 others(43): Show c.787+690_787+717delATATATATATATATATATATATATATAT	HAUS8	ENSG00000131351.15	transcript	ENST00000253669.10	protein_coding	9/10			chr19	TogoVar
HAVCR1_chr5_157024413_157064116	157044464	AAAGAAAG others(21): Show AAAGAAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp2 HG00673.hp1 others(2): Show HG00408.hp2 HG00642.hp2 HG00673.hp1 NA18970.hp2 NA18993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 others(2): Show a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0229 a0002c0002t0001g0248	5	352	0.0142	-28	c.782 others(45): Show c.782-1810_782-1783delCCTTCCTTCCTTCCTTCCTTCCTTTCTT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044468	AAAGGAAG others(21): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03704.hp2 NA19007.hp1 HG02647.hp2 HG03704.hp2 NA19007.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0228 a0003c0003t0001g0234 a0003c0003t0001g0295 a0002c0002t0001g0228 a0003c0003t0001g0234 a0003c0003t0001g0295	3	352	0.0085	-28	c.782 others(45): Show c.782-1814_782-1787delCCTTCCTTCCTTCCTTCCTTCCTTCCTT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044599	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAGAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0312 a0003c0003t0001g0312	1	352	0.0028	-28	c.782 others(45): Show c.782-1945_782-1918delTTCTTTCTTTCTCTTTCTTTCTTTCTTT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044611	GAAAGAGA others(21): Show GAAAGAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01515.hp2 HG01358.hp1 HG01515.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0002g0015 a0003c0003t0001g0142 a0001c0001t0002g0015 a0003c0003t0001g0142	2	352	0.0057	-28	c.782 others(45): Show c.782-1957_782-1930delTTCTTTCTTTCTTTCTTTCTTTCTCTTT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157057386	GGAAAGAA others(21): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0059 a0002c0002t0001g0059	1	352	0.0028	-28	c.46+ others(41): Show c.46+484_46+511delTTTCTTTCTTTCTTTCTTTCTTTCTTTC	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	2/8			chr5	TogoVar
HBM_chr16_160978_171764	163432	AGTGGGGA others(21): Show AGTGGGGAGGGGACAGTGAGGAGGGGACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00609.hp1 others(48): Show HG00423.hp1 HG00438.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00735.hp2 HG01109.hp1 HG01167.hp1 HG01256.hp2 HG01258.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG02040.hp2 HG02080.hp1 HG02135.hp2 HG02155.hp2 HG02572.hp1 HG03041.hp1 HG03098.hp2 HG03669.hp2 NA18612.hp2 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18966.hp2 NA18967.hp2 NA18973.hp2 NA18979.hp1 NA18986.hp2 NA18989.hp2 NA18995.hp2 NA19001.hp2 NA19004.hp1 NA19007.hp2 NA19010.hp1 NA19057.hp1 NA19067.hp1 NA19070.hp2 NA19080.hp2 NA19081.hp2 NA19085.hp2 NA19091.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0003 a0001c0001 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0007t0001 a0002c0003t0001 a0001c0001t0001 a0001c0007t0001 a0002c0003t0001	a0001c0001t0001g0002 a0001c0007t0001g0001 a0002c0003t0001g0001 a0001c0001t0001g0002 a0001c0007t0001g0001 a0002c0003t0001g0001	51	370	0.1378	-28	c.-25 others(39): Show c.-2565_-2538delGTGGGGAGGGGACAGTGAGGAGGGGACC	HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding		2545		chr16	TogoVar
HBM_chr16_160978_171764	163787	GGAGGGGA others(21): Show GGAGGGGACTGTGGGGAGGGGACAGTGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG02015.hp1 HG02056.hp1 others(10): Show HG01361.hp1 HG02015.hp1 HG02056.hp1 HG02074.hp1 NA18943.hp2 NA18982.hp1 NA18988.hp1 NA18993.hp1 NA19001.hp1 NA19003.hp1 NA19004.hp2 NA19007.hp1 NA19064.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0002 a0004c0010t0002 a0001c0001t0002 a0004c0010t0002	a0001c0001t0002g0001 a0004c0010t0002g0001 a0001c0001t0002g0001 a0004c0010t0002g0001	13	370	0.0351	-28	c.-22 others(39): Show c.-2210_-2183delGAGGGGACTGTGGGGAGGGGACAGTGGA	HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding		2190		chr16	TogoVar
HCAR2_chr12_122696293_122708357	122698096	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG02280.hp1 HG02615.hp2 others(5): Show HG00544.hp2 HG02280.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG03139.hp2 HG03704.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	8	428	0.0187	-28	c.40 others(39): Show c.4068_*4095delGAAAGAAAGAAAGAAAGAAAGAAAGAAA	HCAR2	ENSG00000182782.8	transcript	ENST00000328880.6	protein_coding		3196		chr12	TogoVar
HCK_chr20_32047242_32106856	32054475	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03540.hp2 HG02630.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0150 a0001c0001t0001g0151	2	290	0.0069	-28	c.62+ others(43): Show c.62+2011_62+2038delAAAAAAAAAAAAAAAAAAAAAAAAAAAA	HCK	ENSG00000101336.18	transcript	ENST00000375852.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
HCN1_chr5_45249948_45701380	45372041	TATTATAT others(21): Show TATTATATATATAATATAATTATATTATA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01081.hp1 HG01257.hp2 others(3): Show HG01071.hp1 HG01081.hp1 HG01257.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0037 a0001c0001t0003 a0001c0001t0037	a0001c0001t0003g0087 a0001c0001t0003g0093 a0001c0001t0003g0094 others(3): Show a0001c0001t0003g0087 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0215 a0001c0001t0037g0148	6	226	0.0266	-28	c.123 others(49): Show c.1231-18823_1231-18796delTATAATATAATTATATTATATATA TAAT	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCN1_chr5_45249948_45701380	45373690	ATACGGTA others(21): Show ATACGGTATATACGTCATCTATAATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01433.hp1 HG04204.hp2 HG00323.hp1 HG01433.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0195 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0195	3	226	0.0133	-28	c.123 others(49): Show c.1231-20472_1231-20445delATATATTATAGATGACGTATATAC CGTA	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCN1_chr5_45249948_45701380	45539919	GATATATA others(21): Show GATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	226	0.0044	-28	c.850 others(47): Show c.850-77940_850-77913delATATATATATATATATATATATATAT AT	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	2/7			chr5	TogoVar
HCN2_chr19_584881_622159	602332	CCTCCTGC others(21): Show CCTCCTGCGTGGACGCCCCACTTCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02615.hp2 NA18983.hp2 HG02080.hp2 HG02615.hp2 NA18983.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0017 a0002c0010 a0009c0061 a0001c0017 a0002c0010 a0009c0061	a0001c0017t0001 a0002c0010t0002 a0009c0061t0001 a0001c0017t0001 a0002c0010t0002 a0009c0061t0001	a0001c0017t0001g0383 a0002c0010t0002g0270 a0009c0061t0001g0356 a0001c0017t0001g0383 a0002c0010t0002g0270 a0009c0061t0001g0356	3	408	0.0074	-28	c.633 others(45): Show c.633-1190_633-1163delTCCTCCTCTCCTGCGTGGACGCCCCACT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HDAC4_chr2_239043168_239406020	239119525	AGCTGAGG others(21): Show AGCTGAGGGTGTGGGGACCAGAGCTAAGG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01884.hp2 HG02280.hp2 others(6): Show HG01346.hp1 HG01884.hp2 HG02280.hp2 HG02559.hp2 HG02818.hp1 HG03139.hp1 HG03195.hp1 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0010	a0001c0001t0001 a0001c0001t0015 a0001c0003t0004 others(5): Show a0001c0001t0001 a0001c0001t0015 a0001c0003t0004 a0001c0004t0062 a0001c0004t0068 a0001c0007t0003 a0001c0009t0054 a0001c0010t0041	a0001c0001t0001g0002 a0001c0001t0001g0231 a0001c0001t0015g0238 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0231 a0001c0001t0015g0238 a0001c0003t0004g0042 a0001c0004t0062g0075 a0001c0004t0068g0091 a0001c0007t0003g0044 a0001c0009t0054g0122 a0001c0010t0041g0066	9	242	0.0372	-28	c.153 others(47): Show c.1534-4243_1534-4216delCCTTAGCTCTGGTCCCCACACCCTCA GC	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	12/26			chr2	TogoVar
HDAC9_chr7_18490749_19007416	18732722	CACACACA others(21): Show CACACACACGTGTATGTGTGCGTATGTGT	C C	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02965.hp2 HG03098.hp2 others(2): Show HG02523.hp1 HG02965.hp2 HG03098.hp2 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 others(2): Show a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 a0001c0003t0008 a0001c0003t0053	a0001c0001t0005g0143 a0001c0001t0006g0142 a0001c0003t0001g0052 others(2): Show a0001c0001t0005g0143 a0001c0001t0006g0142 a0001c0003t0001g0052 a0001c0003t0008g0009 a0001c0003t0053g0010	5	156	0.0321	-28	c.190 others(47): Show c.1909+5006_1909+5033delATGTGTGCGTATGTGTACACACACGT GT	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18732903	GTGTGCGT others(21): Show GTGTGCGTATGTGTATACACACGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	156	0.0064	-28	c.190 others(47): Show c.1909+5150_1909+5177delGCGTATGTGTATACACACGTGTGTAT GT	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDGFL1_chr6_22564566_22576666	22576522	GATATATA others(21): Show GATATATATATATATATATATATATATAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02738.hp2 HG02818.hp1 others(2): Show HG02145.hp1 HG02738.hp2 HG02818.hp1 HG03834.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0006 a0001c0004t0003 a0001c0001t0001 a0001c0001t0006 a0001c0004t0003	a0001c0001t0001g0000 a0001c0001t0006g0000 a0001c0004t0003g0000 a0001c0001t0001g0000 a0001c0001t0006g0000 a0001c0004t0003g0000	5	432	0.0116	-28	c.61 others(39): Show c.6192_*6219delATATATATATATATATATATATATATAT	HDGFL1	ENSG00000112273.7	transcript	ENST00000510882.4	protein_coding		4857		chr6	TogoVar
HEATR4_chr14_73473484_73563947	73509809	CCCATATA others(21): Show CCCATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01175.hp1 HG00099.hp1 HG01175.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0148 a0001c0003t0004g0178 a0001c0003t0004g0148 a0001c0003t0004g0178	2	368	0.0054	-28	c.155 others(45): Show c.1559-364_1559-337delATATATATATATATATATATATATATGG	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	7/17			chr14	TogoVar
HEATR4_chr14_73473484_73563947	73509810	CCATATAT others(21): Show CCATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00609.hp1 others(33): Show HG00408.hp2 HG00597.hp1 HG00609.hp1 HG00673.hp2 HG00738.hp1 HG01261.hp1 HG01515.hp2 HG02040.hp2 HG02080.hp2 HG02109.hp1 HG02135.hp2 HG02523.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG03017.hp2 HG03195.hp1 HG03471.hp1 HG03490.hp1 HG03579.hp2 HG03710.hp1 HG04115.hp1 HG04204.hp2 NA18951.hp2 NA18954.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18985.hp2 NA18986.hp2 NA18998.hp2 NA19000.hp1 NA19012.hp2 NA19065.hp2 NA19082.hp1 NA19091.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0015	a0001c0001 a0001c0003 a0001c0006 others(5): Show a0001c0001 a0001c0003 a0001c0006 a0001c0022 a0002c0007 a0004c0011 a0004c0012 a0015c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0003t0002 a0001c0006t0003 a0001c0022t0001 a0002c0007t0003 a0004c0011t0004 a0004c0012t0004 a0015c0030t0012	a0001c0001t0001g0018 a0001c0001t0001g0040 a0001c0001t0001g0091 others(33): Show a0001c0001t0001g0018 a0001c0001t0001g0040 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0002g0303 a0001c0001t0003g0233 a0001c0001t0003g0243 a0001c0001t0003g0248 a0001c0001t0003g0360 a0001c0001t0004g0212 a0001c0001t0004g0328 a0001c0001t0004g0354 a0001c0001t0004g0355 a0001c0001t0005g0009 a0001c0001t0005g0034 a0001c0003t0002g0357 a0001c0006t0003g0358 a0001c0006t0003g0359 a0001c0022t0001g0045 a0002c0007t0003g0152 a0002c0007t0003g0153 a0004c0011t0004g0175 a0004c0012t0004g0162 a0015c0030t0012g0134	36	368	0.0978	-28	c.155 others(45): Show c.1559-365_1559-338delTATATATATATATATATATATATATATG	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	7/17			chr14	TogoVar
HEATR4_chr14_73473484_73563947	73509846	ATATATAT others(21): Show ATATATATATATATATATATATATTTATT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	368	0.0027	-28	c.155 others(45): Show c.1559-401_1559-374delAATAAATATATATATATATATATATATA	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	7/17			chr14	TogoVar
HEATR5A_chr14_31286788_31425550	31407580	TTATTTAT others(21): Show TTATTTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03516.hp1 HG02717.hp2 HG03516.hp1	a0018 a0018	a0018c0018 a0018c0018	a0018c0018t0006 a0018c0018t0006	a0018c0018t0006g0340 a0018c0018t0006g0341 a0018c0018t0006g0340 a0018c0018t0006g0341	2	354	0.0057	-28	c.-74 others(45): Show c.-74-4559_-74-4532delTATATATATATATATATATATATAAATA	HEATR5A	ENSG00000129493.15	transcript	ENST00000543095.7	protein_coding	1/35			chr14	TogoVar
HECW1_chr7_43107647_43571001	43302193	CAGCCTGA others(21): Show CAGCCTGAGGCTCCTCAGGCTTCTCAACA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp2 HG03209.hp1 HG02451.hp1 HG02572.hp2 HG03209.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0003 a0001c0004t0009 a0001c0006t0002 a0001c0004t0003 a0001c0004t0009 a0001c0006t0002	a0001c0004t0003g0077 a0001c0004t0009g0121 a0001c0006t0002g0050 a0001c0004t0003g0077 a0001c0004t0009g0121 a0001c0006t0002g0050	3	182	0.0165	-28	c.28- others(43): Show c.28-9556_28-9529delTCAGGCTTCTCAACAAGCCTGAGGCTCC	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43429289	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG02965.hp2 HG02280.hp1 HG02572.hp2 HG02965.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0004 a0003c0028 a0006c0019 a0001c0004 a0003c0028 a0006c0019	a0001c0004t0003 a0003c0028t0010 a0006c0019t0005 a0001c0004t0003 a0003c0028t0010 a0006c0019t0005	a0001c0004t0003g0077 a0003c0028t0010g0169 a0006c0019t0005g0179 a0001c0004t0003g0077 a0003c0028t0010g0169 a0006c0019t0005g0179	3	182	0.0165	-28	c.802 others(45): Show c.802-8694_802-8667delTATATATATATATATATATATATATATA	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	8/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43488464	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0132 a0001c0014t0001g0132	1	182	0.0055	-28	c.323 others(47): Show c.3235-3609_3235-3582delAAGAAAGAAAGAAAGAAAGAAAGAGA AA	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HELLS_chr10_94540788_94607099	94580117	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02040.hp1 HG03453.hp1 others(1): Show HG01109.hp2 HG02040.hp1 HG03453.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0069 a0001c0002t0001g0312 a0001c0002t0001g0313 others(1): Show a0001c0001t0001g0069 a0001c0002t0001g0312 a0001c0002t0001g0313 a0001c0002t0001g0315	4	358	0.0112	-28	c.103 others(47): Show c.1033-1190_1033-1163delTATATATATATATATATATATATATA TA	HELLS	ENSG00000119969.16	transcript	ENST00000348459.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
HELLS_chr10_94540788_94607099	94580140	TATATATA others(21): Show TATATATATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG03490.hp2 HG03710.hp2 others(6): Show HG01978.hp2 HG03490.hp2 HG03710.hp2 NA18943.hp1 NA18944.hp1 NA18959.hp2 NA19060.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0059 a0001c0001t0001g0060 others(6): Show a0001c0001t0001g0046 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066	9	358	0.0251	-28	c.103 others(47): Show c.1033-1184_1033-1157delTATATATATATATATATATATACACA CA	HELLS	ENSG00000119969.16	transcript	ENST00000348459.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
HELT_chr4_185013490_185025953	185023029	TTCTCTCT others(21): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	454	0.0022	-28	c.22 others(39): Show c.2258_*2285delTCTCTCTCTCTCTCTCTCTCTCTCTCTC	HELT	ENSG00000187821.9	transcript	ENST00000515777.6	protein_coding		2077		chr4	TogoVar
HELZ_chr17_67065444_67250196	67125286	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0005 a0001c0001t0037g0005	1	274	0.0037	-28	c.338 others(47): Show c.3388-1300_3388-1273delTATATATATATATATATATATATATA TA	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	24/32			chr17	TogoVar
HEPHL1_chr11_94016354_94119208	94060092	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01952.hp1 HG02735.hp1 others(7): Show HG01123.hp2 HG01952.hp1 HG02735.hp1 HG03490.hp2 HG03654.hp1 HG04228.hp2 NA18981.hp2 NA19076.hp2 NA19088.hp1 NA20905.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0011 a0001c0001 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0008c0011t0001 a0001c0001t0001 a0001c0001t0002 a0008c0011t0001	a0001c0001t0001g0039 a0001c0001t0001g0166 a0001c0001t0001g0201 others(7): Show a0001c0001t0001g0039 a0001c0001t0001g0166 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0220 a0001c0001t0001g0231 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0240 a0008c0011t0001g0181	10	368	0.0272	-28	c.416 others(45): Show c.416-3385_416-3358delTATATATATATATATATATATATATATA	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94115572	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02257.hp2 HG02922.hp2 others(4): Show HG01891.hp2 HG02257.hp2 HG02922.hp2 HG03130.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp1	a0001 a0002 a0023 a0001 a0002 a0023	a0001c0001 a0001c0007 a0002c0005 others(1): Show a0001c0001 a0001c0007 a0002c0005 a0023c0014	a0001c0001t0003 a0001c0007t0004 a0002c0005t0004 others(1): Show a0001c0001t0003 a0001c0007t0004 a0002c0005t0004 a0023c0014t0004	a0001c0001t0003g0257 a0001c0007t0004g0014 a0001c0007t0004g0015 others(4): Show a0001c0001t0003g0257 a0001c0007t0004g0014 a0001c0007t0004g0015 a0002c0005t0004g0075 a0002c0005t0004g0076 a0002c0005t0004g0077 a0023c0014t0004g0361	7	368	0.0190	-28	c.36 others(39): Show c.3679_*3706delATATATATATATATATATATATATATAT	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding		1365		chr11	TogoVar
HEPH_chrX_66159247_66272389	66208631	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03130.hp1 NA19043.hp1 HG02615.hp2 HG03130.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0001 a0001c0003t0002 a0001c0010t0001 a0001c0003t0001 a0001c0003t0002 a0001c0010t0001	a0001c0003t0001g0080 a0001c0003t0002g0081 a0001c0010t0001g0079 a0001c0003t0001g0080 a0001c0003t0002g0081 a0001c0010t0001g0079	3	218	0.0138	-28	c.256 others(45): Show c.2563+404_2563+431delATATATATATATATATATATATATATAT	HEPH	ENSG00000089472.18	transcript	ENST00000343002.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chrX	TogoVar

Search by Variant

Search

Search Results (Total: 7045 hits)