Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HIVEP3_chr1_41501365_41923922	41531421	GGACAGGG others(9): Show GGACAGGGGAGATGGAA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0004 a0001c0001t0078g0004	1	134	0.0075	-16	c.520 others(35): Show c.5208-6527_5208-6512delTTCCATCTCCCCTGTC	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41531514	AGAGGACA others(9): Show AGAGGACAGGAGAGATG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02896.hp2 NA21309.hp2 HG01243.hp2 HG02896.hp2 NA21309.hp2	a0001 a0019 a0024 a0001 a0019 a0024	a0001c0001 a0019c0020 a0024c0030 a0001c0001 a0019c0020 a0024c0030	a0001c0001t0078 a0019c0020t0008 a0024c0030t0025 a0001c0001t0078 a0019c0020t0008 a0024c0030t0025	a0001c0001t0078g0004 a0019c0020t0008g0070 a0024c0030t0025g0090 a0001c0001t0078g0004 a0019c0020t0008g0070 a0024c0030t0025g0090	3	134	0.0224	-16	c.520 others(35): Show c.5208-6620_5208-6605delCATCTCTCCTGTCCTC	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41824778	TATATATA others(9): Show TATATATAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0014 a0014	a0014c0017 a0014c0017	a0014c0017t0053 a0014c0017t0053	a0014c0017t0053g0043 a0014c0017t0053g0043	1	134	0.0075	-16	c.-80 others(37): Show c.-801+93619_-801+93634delCTCTCTCTCTATATAT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41851289	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0031 a0001c0003t0002g0031	1	134	0.0075	-16	c.-80 others(37): Show c.-801+67108_-801+67123delAAAAAAAAAAAAAAAA	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41875859	CACCTAAC others(9): Show CACCTAACAAATTTGTA	C C	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0111 a0001c0001t0064g0111	1	134	0.0075	-16	c.-80 others(37): Show c.-801+42538_-801+42553delTACAAATTTGTTAGGT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8			chr1	TogoVar
HK1_chr10_69273496_69406882	69276090	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01071.hp1 HG01081.hp1 HG00733.hp1 HG01071.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0041 a0001c0001t0001g0208 a0001c0001t0014g0040 a0001c0001t0001g0041 a0001c0001t0001g0208 a0001c0001t0014g0040	3	280	0.0107	-16	c.-28 others(27): Show c.-2890_-2875delAAAAAAAAAAAAAAAA	HK1	ENSG00000156515.25	transcript	ENST00000643399.2	protein_coding		2405		chr10	TogoVar
HK1_chr10_69273496_69406882	69304275	ATTATTTA others(9): Show ATTATTTATTTATTTAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00735.hp2 HG01099.hp2 others(10): Show HG00558.hp2 HG00735.hp2 HG01099.hp2 HG01109.hp1 HG01433.hp1 HG02027.hp2 HG03209.hp2 HG03942.hp2 HG04204.hp2 NA18906.hp1 NA18955.hp1 NA19057.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0013 a0002c0016	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0006t0006 a0001c0013t0003 a0002c0016t0001	a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0184 others(10): Show a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0184 a0001c0001t0001g0197 a0001c0001t0001g0228 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0062 a0001c0001t0002g0114 a0001c0002t0002g0091 a0001c0006t0006g0034 a0001c0013t0003g0230 a0002c0016t0001g0246	13	280	0.0464	-16	c.75+ others(31): Show c.75+8626_75+8641delATTTATTTATTTATTT	HK1	ENSG00000156515.25	transcript	ENST00000643399.2	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
HK1_chr10_69273496_69406882	69342162	AAAACAAA others(9): Show AAAACAAACAAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0009 a0001c0022t0009	a0001c0022t0009g0145 a0001c0022t0009g0145	1	280	0.0036	-16	c.76- others(31): Show c.76-1645_76-1630delCAAACAAACAAACAAA	HK1	ENSG00000156515.25	transcript	ENST00000643399.2	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
HK1_chr10_69313847_69406882	69342162	AAAACAAA others(9): Show AAAACAAACAAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0006 a0001c0023t0006	a0001c0023t0006g0064 a0001c0023t0006g0064	1	296	0.0034	-16	c.64- others(31): Show c.64-1645_64-1630delCAAACAAACAAACAAA	HK1	ENSG00000156515.25	transcript	ENST00000359426.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
HK2_chr2_74829127_74898359	74862560	CATGGAAG others(9): Show CATGGAAGCTGGTTAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0022 a0001c0012t0022	a0001c0012t0022g0332 a0001c0012t0022g0332	1	394	0.0025	-16	c.227 others(33): Show c.227-5075_227-5060delATGGAAGCTGGTTAAA	HK2	ENSG00000159399.10	transcript	ENST00000290573.7	protein_coding	2/17			chr2	TogoVar
HK2_chr2_74829127_74898359	74878413	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG04228.hp2 HG03831.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0149 a0001c0001t0002g0008 a0001c0001t0002g0149	2	394	0.0051	-16	c.103 others(33): Show c.1032-264_1032-249delTGTGTGTGTGTGTGTG	HK2	ENSG00000159399.10	transcript	ENST00000290573.7	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
HKDC1_chr10_69215332_69272552	69264197	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01081.hp2 HG01884.hp2 others(17): Show HG00558.hp1 HG01081.hp2 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG03130.hp1 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA18980.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0010	a0001c0003 a0001c0006 a0002c0002 others(2): Show a0001c0003 a0001c0006 a0002c0002 a0007c0014 a0010c0020	a0001c0003t0001 a0001c0006t0002 a0002c0002t0001 others(3): Show a0001c0003t0001 a0001c0006t0002 a0002c0002t0001 a0002c0002t0002 a0007c0014t0001 a0010c0020t0001	a0001c0003t0001g0067 a0001c0003t0001g0192 a0001c0003t0001g0197 others(17): Show a0001c0003t0001g0067 a0001c0003t0001g0192 a0001c0003t0001g0197 a0001c0003t0001g0199 a0001c0003t0001g0225 a0001c0003t0001g0239 a0001c0003t0001g0264 a0001c0006t0002g0205 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0050 a0002c0002t0001g0054 a0002c0002t0001g0070 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0139 a0002c0002t0001g0301 a0002c0002t0002g0329 a0007c0014t0001g0194 a0010c0020t0001g0203	20	380	0.0526	-16	c.237 others(35): Show c.2373-1358_2373-1343delGTGTGTGTGTGTGTGT	HKDC1	ENSG00000156510.13	transcript	ENST00000354624.6	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
HLA-A_chr6_29937532_29950870	29949265	TGAAGTGT others(9): Show TGAAGTGTGGGCCCTGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01099.hp2 HG01167.hp2 others(20): Show HG01074.hp1 HG01099.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01516.hp2 HG01517.hp1 HG01934.hp2 HG02040.hp2 HG02132.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG03195.hp2 HG03453.hp1 HG03486.hp2 HG04115.hp2 NA20905.hp1	a0014 a0016 a0019 others(2): Show a0014 a0016 a0019 a0027 a0035	a0014c0014 a0016c0016 a0019c0019 others(2): Show a0014c0014 a0016c0016 a0019c0019 a0027c0029 a0035c0037	a0014c0014t0008 a0016c0016t0008 a0019c0019t0008 others(2): Show a0014c0014t0008 a0016c0016t0008 a0019c0019t0008 a0027c0029t0008 a0035c0037t0008	a0014c0014t0008g0012 a0016c0016t0008g0011 a0019c0019t0008g0017 others(3): Show a0014c0014t0008g0012 a0016c0016t0008g0011 a0019c0019t0008g0017 a0019c0019t0008g0036 a0027c0029t0008g0011 a0035c0037t0008g0037	23	418	0.0550	-16	c.38 others(27): Show c.3811_*3826delGAAGTGTGGGCCCTGA	HLA-A	ENSG00000206503.14	transcript	ENST00000376809.10	protein_coding		3396		chr6	TogoVar
HLA-DPB1_chr6_33070990_33094696	33084849	AAAGGAAG others(9): Show AAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp1 HG00735.hp2 others(55): Show HG00140.hp1 HG00621.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG02148.hp1 HG02273.hp1 HG02280.hp2 HG02572.hp1 HG02622.hp1 HG02647.hp1 HG02723.hp1 HG02738.hp1 HG02896.hp1 HG02897.hp1 HG03017.hp1 HG03239.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 NA18940.hp1 NA18946.hp1 NA18949.hp1 NA18950.hp1 NA18962.hp1 NA18975.hp1 NA18981.hp1 NA18988.hp2 NA18994.hp1 NA19000.hp1 NA19011.hp1 NA19055.hp2 NA19057.hp1 NA19065.hp1 NA19085.hp2 NA20300.hp1	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0019 a0020	a0002c0002 a0002c0017 a0003c0003 others(3): Show a0002c0002 a0002c0017 a0003c0003 a0004c0004 a0019c0027 a0020c0030	a0002c0002t0001 a0002c0017t0001 a0003c0003t0001 others(3): Show a0002c0002t0001 a0002c0017t0001 a0003c0003t0001 a0004c0004t0001 a0019c0027t0001 a0020c0030t0001	a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0043 others(7): Show a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0043 a0002c0017t0001g0028 a0003c0003t0001g0022 a0004c0004t0001g0002 a0004c0004t0001g0026 a0004c0004t0001g0058 a0019c0027t0001g0050 a0020c0030t0001g0022	58	455	0.1275	-16	c.365 others(29): Show c.365-66_365-51delGGAAGGAAGGAAGGAA	HLA-DPB1	ENSG00000223865.11	transcript	ENST00000418931.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
HLA-DQA1_chr6_32632406_32648684	32639787	CATGTATT others(9): Show CATGTATTCCACATATA	C C	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0005 a0006c0007t0005	a0006c0007t0005g0025 a0006c0007t0005g0025	1	86	0.0116	-16	c.83- others(31): Show c.83-1522_83-1507delATGTATTCCACATATA	HLA-DQA1	ENSG00000196735.13	transcript	ENST00000343139.11	protein_coding	1/4			chr6	TogoVar
HLA-DRA_chr6_32434887_32450046	32449127	AGAAGCAA others(9): Show AGAAGCAAGGAAGGAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00735.hp1 HG00741.hp1 others(27): Show HG00558.hp1 HG00735.hp1 HG00741.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01496.hp2 HG01516.hp1 HG01993.hp1 HG02572.hp1 HG03540.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18962.hp1 NA18975.hp1 NA18988.hp2 NA18994.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19011.hp2 NA19055.hp1 NA19077.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0006 a0001c0005t0006 a0001c0001t0006 a0001c0005t0006	a0001c0001t0006g0007 a0001c0001t0006g0012 a0001c0001t0006g0044 others(1): Show a0001c0001t0006g0007 a0001c0001t0006g0012 a0001c0001t0006g0044 a0001c0005t0006g0019	30	459	0.0654	-16	c.44 others(27): Show c.4488_*4503delGAAGCAAGGAAGGAAG	HLA-DRA	ENSG00000204287.14	transcript	ENST00000395388.7	protein_coding		4082		chr6	TogoVar
HLA-DRA_chr6_32434887_32450046	32449132	CAAGGAAG others(9): Show CAAGGAAGGAAGGAAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01069.hp2 HG02257.hp2 others(7): Show HG00673.hp2 HG01069.hp2 HG02257.hp2 NA18944.hp1 NA18977.hp2 NA18987.hp1 NA18988.hp1 NA19004.hp1 NA19009.hp1 NA19055.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0004 a0003c0003 a0002c0002 a0002c0004 a0003c0003	a0002c0002t0002 a0002c0004t0005 a0003c0003t0002 a0002c0002t0002 a0002c0004t0005 a0003c0003t0002	a0002c0002t0002g0003 a0002c0002t0002g0016 a0002c0002t0002g0033 others(2): Show a0002c0002t0002g0003 a0002c0002t0002g0016 a0002c0002t0002g0033 a0002c0004t0005g0036 a0003c0003t0002g0009	10	459	0.0218	-16	c.44 others(27): Show c.4493_*4508delAAGGAAGGAAGGAAGG	HLA-DRA	ENSG00000204287.14	transcript	ENST00000395388.7	protein_coding		4087		chr6	TogoVar
HLA-DRB1_chr6_32573775_32594848	32584005	TCTGTCTC others(9): Show TCTGTCTCTCTCTCACA	T T	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0020 a0020	a0020c0021 a0020c0021	a0020c0021t0001 a0020c0021t0001	a0020c0021t0001g0095 a0020c0021t0001g0095	1	208	0.0048	-16	c.370 others(30): Show c.370+88_370+103delTGTGAGAGAGAGACAG	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	2/5			chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722521	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG01106.hp1 others(20): Show HG00140.hp2 HG00438.hp2 HG01106.hp1 HG01261.hp1 HG01975.hp1 HG01981.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02523.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02886.hp2 HG02976.hp1 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG04184.hp1 NA18965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 a0001c0001 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0008t0001 a0002c0002t0001 a0001c0001t0001 a0001c0008t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0008t0001g0033 a0002c0002t0001g0005	23	443	0.0519	-16	c.-94 others(25): Show c.-942_-927delAAAAAAAAAAAAAAAA	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		912		chr6	TogoVar
HLA-F_chr6_29718434_29732296	29731227	GGATACAT others(9): Show GGATACATAGATAGATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00738.hp2 others(16): Show HG00099.hp2 HG00140.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01261.hp1 HG01952.hp1 HG01975.hp1 HG01981.hp2 HG02273.hp2 HG02300.hp2 HG02559.hp2 HG02717.hp1 HG02738.hp2 HG02976.hp1 HG03654.hp1 HG03669.hp1 HG03710.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0003c0003t0001g0008 a0001c0001t0001g0001 a0001c0001t0001g0004 a0003c0003t0001g0008	19	443	0.0429	-16	c.40 others(27): Show c.4053_*4068delGATACATAGATAGATA	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		3932		chr6	TogoVar
HLCS_chr21_36743626_36971669	36828366	GGAATGAA others(9): Show GGAATGAATGAATGAAT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01884.hp1 HG01952.hp2 others(7): Show HG01099.hp2 HG01884.hp1 HG01952.hp2 HG02615.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG03098.hp2 HG03130.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0006 a0001c0001t0018 a0001c0001t0022 others(5): Show a0001c0001t0006 a0001c0001t0018 a0001c0001t0022 a0001c0001t0024 a0001c0001t0030 a0001c0001t0069 a0001c0001t0093 a0001c0004t0017	a0001c0001t0006g0256 a0001c0001t0018g0189 a0001c0001t0022g0187 others(7): Show a0001c0001t0006g0256 a0001c0001t0018g0189 a0001c0001t0022g0187 a0001c0001t0024g0191 a0001c0001t0024g0211 a0001c0001t0030g0257 a0001c0001t0069g0255 a0001c0001t0093g0133 a0001c0004t0017g0219 a0001c0004t0017g0220	10	258	0.0388	-16	c.189 others(37): Show c.1893-61097_1893-61082delATTCATTCATTCATTC	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HLCS_chr21_36743626_36971669	36855536	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00438.hp2 others(58): Show HG00280.hp2 HG00323.hp2 HG00438.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01346.hp1 HG01496.hp1 HG01975.hp1 HG01981.hp1 HG02040.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp1 HG03130.hp2 HG03225.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG04204.hp2 HG06807.hp2 NA18612.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18959.hp1 NA18967.hp1 NA18968.hp2 NA18970.hp2 NA18975.hp2 NA18989.hp1 NA18993.hp2 NA19004.hp2 NA19030.hp2 NA19068.hp2 NA19074.hp2 NA19240.hp2	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0009	a0001c0001 a0001c0003 a0006c0016 others(2): Show a0001c0001 a0001c0003 a0006c0016 a0007c0014 a0009c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0028 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0037 a0001c0001t0039 a0001c0001t0053 a0001c0001t0055 a0001c0001t0059 a0001c0001t0061 a0001c0001t0071 a0001c0001t0078 a0001c0001t0082 a0001c0001t0085 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0099 a0001c0001t0103 a0001c0003t0111 a0006c0016t0001 a0007c0014t0070 a0009c0009t0012	a0001c0001t0001g0011 a0001c0001t0001g0077 a0001c0001t0001g0120 others(58): Show a0001c0001t0001g0011 a0001c0001t0001g0077 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0179 a0001c0001t0002g0183 a0001c0001t0003g0166 a0001c0001t0003g0173 a0001c0001t0003g0184 a0001c0001t0004g0014 a0001c0001t0004g0138 a0001c0001t0005g0113 a0001c0001t0006g0096 a0001c0001t0006g0109 a0001c0001t0006g0127 a0001c0001t0006g0256 a0001c0001t0007g0162 a0001c0001t0007g0170 a0001c0001t0007g0227 a0001c0001t0008g0078 a0001c0001t0009g0178 a0001c0001t0010g0164 a0001c0001t0010g0169 a0001c0001t0010g0229 a0001c0001t0011g0103 a0001c0001t0011g0107 a0001c0001t0014g0159 a0001c0001t0014g0181 a0001c0001t0014g0182 a0001c0001t0016g0098 a0001c0001t0016g0106 a0001c0001t0028g0167 a0001c0001t0030g0257 a0001c0001t0032g0081 a0001c0001t0032g0111 a0001c0001t0033g0104 a0001c0001t0035g0097 a0001c0001t0037g0254 a0001c0001t0039g0126 a0001c0001t0053g0186 a0001c0001t0055g0185 a0001c0001t0059g0180 a0001c0001t0061g0163 a0001c0001t0071g0089 a0001c0001t0078g0108 a0001c0001t0082g0112 a0001c0001t0085g0110 a0001c0001t0088g0105 a0001c0001t0089g0099 a0001c0001t0090g0005 a0001c0001t0099g0124 a0001c0001t0103g0100 a0001c0003t0111g0137 a0006c0016t0001g0116 a0007c0014t0070g0131 a0009c0009t0012g0196	61	258	0.2364	-16	c.189 others(37): Show c.1892+41308_1892+41323delTTTTTTTTTTTTTTTT	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HLCS_chr21_36743626_36971669	36869097	AATTTATT others(9): Show AATTTATTTATTTATTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01106.hp1 HG01109.hp2 others(9): Show HG00323.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01978.hp1 HG02257.hp1 HG03669.hp1 HG03831.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 others(6): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0003t0003 a0001c0003t0007 a0001c0003t0012 a0001c0003t0050 a0001c0007t0007 a0001c0007t0012	a0001c0001t0002g0165 a0001c0001t0002g0174 a0001c0001t0007g0194 others(9): Show a0001c0001t0002g0165 a0001c0001t0002g0174 a0001c0001t0007g0194 a0001c0001t0009g0201 a0001c0001t0009g0202 a0001c0003t0003g0199 a0001c0003t0007g0215 a0001c0003t0007g0221 a0001c0003t0012g0205 a0001c0003t0050g0206 a0001c0007t0007g0200 a0001c0007t0012g0207	12	258	0.0465	-16	c.189 others(37): Show c.1892+27747_1892+27762delAAATAAATAAATAAAT	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HLCS_chr21_36743626_36971669	36888441	AAAAAATA others(9): Show AAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA19240.hp1 HG03195.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0019 a0001c0017t0108 a0001c0001t0019 a0001c0017t0108	a0001c0001t0019g0247 a0001c0017t0108g0082 a0001c0001t0019g0247 a0001c0017t0108g0082	2	258	0.0078	-16	c.189 others(35): Show c.1892+8403_1892+8418delATATATATATATTTTT	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HLCS_chr21_36743626_36971669	36888445	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp1 HG03471.hp2 others(3): Show HG01884.hp1 HG02559.hp1 HG03471.hp2 HG03516.hp1 HG06807.hp1 NA18993.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0010 a0001c0001t0022 a0001c0001t0031 others(3): Show a0001c0001t0010 a0001c0001t0022 a0001c0001t0031 a0001c0001t0073 a0001c0004t0072 a0002c0002t0025	a0001c0001t0010g0164 a0001c0001t0022g0187 a0001c0001t0031g0245 others(3): Show a0001c0001t0010g0164 a0001c0001t0022g0187 a0001c0001t0031g0245 a0001c0001t0073g0246 a0001c0004t0072g0248 a0002c0002t0025g0149	6	258	0.0233	-16	c.189 others(35): Show c.1892+8399_1892+8414delATATATATATATATAT	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HLF_chr17_55259960_55330187	55281162	GAGGGATG others(9): Show GAGGGATGTTGAATTTC	G G	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	408	0.0025	-16	c.451 others(35): Show c.451+13079_451+13094delGGATGTTGAATTTCAG	HLF	ENSG00000108924.14	transcript	ENST00000226067.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
HLTF_chr3_149025127_149091533	149079373	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0289 a0001c0003t0002g0289	1	404	0.0025	-16	c.229 others(33): Show c.229-3342_229-3327delTTTTTTTTTTTTTTTT	HLTF	ENSG00000071794.16	transcript	ENST00000310053.10	protein_coding	2/24			chr3	TogoVar
HLX_chr1_220874443_220890059	220881763	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00642.hp1 others(38): Show HG00323.hp1 HG00558.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG01069.hp1 HG01070.hp2 HG01123.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02040.hp1 HG02148.hp1 HG02293.hp1 HG02300.hp2 HG02922.hp2 HG03704.hp2 HG03831.hp2 HG04228.hp2 NA18939.hp2 NA18950.hp2 NA18957.hp1 NA18960.hp1 NA18966.hp2 NA18967.hp1 NA18982.hp2 NA18995.hp1 NA18998.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19056.hp1 NA19070.hp1 NA19075.hp2 NA19079.hp2 NA19083.hp2 NA19088.hp1 NA19088.hp2 NA20300.hp2 NA20905.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0012 a0002c0003t0014 others(1): Show a0002c0003t0003 a0002c0003t0012 a0002c0003t0014 a0002c0003t0015	a0002c0003t0003g0001 a0002c0003t0003g0044 a0002c0003t0003g0114 others(5): Show a0002c0003t0003g0001 a0002c0003t0003g0044 a0002c0003t0003g0114 a0002c0003t0003g0118 a0002c0003t0003g0142 a0002c0003t0012g0044 a0002c0003t0014g0001 a0002c0003t0015g0001	41	438	0.0936	-16	c.773 others(31): Show c.773-366_773-351delACACACACACACACAC	HLX	ENSG00000136630.13	transcript	ENST00000366903.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
HLX_chr1_220874443_220890059	220883284	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00597.hp1 others(59): Show HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG01109.hp1 HG01243.hp2 HG01261.hp2 HG01891.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02155.hp1 HG02523.hp1 HG02602.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG03688.hp1 HG03710.hp1 HG04228.hp1 NA18941.hp1 NA18951.hp2 NA18954.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp2 NA18969.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18994.hp2 NA18995.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19043.hp1 NA19054.hp1 NA19058.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19072.hp2 NA19075.hp1 NA19080.hp1 NA19081.hp1 NA19083.hp1 NA19086.hp2 NA19091.hp1 NA20805.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0003 a0010c0011 a0001c0001 a0002c0003 a0010c0011	a0001c0001t0001 a0001c0001t0010 a0001c0001t0019 others(2): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0019 a0002c0003t0005 a0010c0011t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0014 others(11): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0001g0101 a0001c0001t0010g0080 a0001c0001t0010g0120 a0001c0001t0019g0004 a0002c0003t0005g0139 a0010c0011t0001g0004	62	438	0.1416	-16	c.958 others(31): Show c.958-878_958-863delACACACACACACACAC	HLX	ENSG00000136630.13	transcript	ENST00000366903.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMBOX1_chr8_28885395_29058262	28960753	CTTTTTCT others(9): Show CTTTTTCTTTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01261.hp1 HG02257.hp2 others(21): Show HG00544.hp1 HG01261.hp1 HG02257.hp2 HG02622.hp2 HG02630.hp1 HG02809.hp2 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03486.hp1 HG03579.hp2 NA18943.hp2 NA18947.hp1 NA18956.hp1 NA18959.hp1 NA18972.hp2 NA18981.hp2 NA18982.hp2 NA19012.hp2 NA19030.hp2 NA19057.hp1 NA19062.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 others(3): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0022 a0001c0001t0023	a0001c0001t0006g0327 a0001c0001t0006g0328 a0001c0001t0006g0330 others(21): Show a0001c0001t0006g0327 a0001c0001t0006g0328 a0001c0001t0006g0330 a0001c0001t0006g0335 a0001c0001t0006g0336 a0001c0001t0006g0337 a0001c0001t0006g0338 a0001c0001t0006g0339 a0001c0001t0006g0341 a0001c0001t0007g0009 a0001c0001t0007g0010 a0001c0001t0007g0011 a0001c0001t0007g0012 a0001c0001t0007g0013 a0001c0001t0007g0014 a0001c0001t0007g0015 a0001c0001t0007g0016 a0001c0001t0007g0017 a0001c0001t0007g0262 a0001c0001t0008g0340 a0001c0001t0016g0329 a0001c0001t0016g0332 a0001c0001t0022g0334 a0001c0001t0023g0333	24	344	0.0698	-16	c.-57 others(33): Show c.-57-3052_-57-3037delCTTTTTCTTTTTTTTT	HMBOX1	ENSG00000147421.18	transcript	ENST00000287701.15	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
HMBOX1_chr8_28885395_29058262	28970981	GACACACA others(9): Show GACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01943.hp1 NA18949.hp1 others(3): Show HG00438.hp2 HG01943.hp1 NA18949.hp1 NA18973.hp2 NA19006.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0190 a0001c0001t0002g0214 others(3): Show a0001c0001t0002g0132 a0001c0001t0002g0190 a0001c0001t0002g0214 a0001c0001t0002g0237 a0001c0001t0002g0244 a0001c0001t0002g0270	6	344	0.0174	-16	c.500 others(31): Show c.500+496_500+511delCACACACACACACACA	HMBOX1	ENSG00000147421.18	transcript	ENST00000287701.15	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
HMBS_chr11_119079881_119098549	119090614	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	444	0.0023	-16	c.498 others(31): Show c.498+354_498+369delTTTTTTTTTTTTTTTT	HMBS	ENSG00000256269.11	transcript	ENST00000652429.1	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
HMCN1_chr1_185729391_186195949	185858586	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02040.hp2 HG02572.hp2 HG00735.hp1 HG02040.hp2 HG02572.hp2	a0001 a0031 a0039 a0001 a0031 a0039	a0001c0001 a0031c0023 a0039c0033 a0001c0001 a0031c0023 a0039c0033	a0001c0001t0001 a0031c0023t0001 a0039c0033t0001 a0001c0001t0001 a0031c0023t0001 a0039c0033t0001	a0001c0001t0001g0035 a0031c0023t0001g0074 a0039c0033t0001g0076 a0001c0001t0001g0035 a0031c0023t0001g0074 a0039c0033t0001g0076	3	92	0.0326	-16	c.340 others(33): Show c.340-5852_340-5837delTTTTTTTTTTTTTTTT	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	2/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMCN1_chr1_185729391_186195949	185865582	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02976.hp2 HG03486.hp1 others(2): Show HG01891.hp2 HG02976.hp2 HG03486.hp1 NA19030.hp2 NA19240.hp2	a0001 a0026 a0001 a0026	a0001c0001 a0001c0027 a0026c0040 a0001c0001 a0001c0027 a0026c0040	a0001c0001t0001 a0001c0001t0002 a0001c0027t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0027t0002 a0026c0040t0003	a0001c0001t0001g0091 a0001c0001t0002g0089 a0001c0001t0002g0090 others(2): Show a0001c0001t0001g0091 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0027t0002g0088 a0026c0040t0003g0086	5	92	0.0544	-16	c.499 others(31): Show c.499-125_499-110delCACACACACACACACA	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	3/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMCN1_chr1_185729391_186195949	186063449	AGAAGGAA others(9): Show AGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01099.hp2 HG01243.hp2 others(22): Show HG00639.hp2 HG01099.hp2 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01516.hp2 HG01978.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02976.hp1 HG03017.hp1 HG03540.hp2 HG04115.hp1 NA18522.hp2 NA19030.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0006 a0007 a0012 a0019 a0020 a0034 a0037 a0038 a0043 a0045	a0001c0001 a0001c0027 a0001c0035 others(14): Show a0001c0001 a0001c0027 a0001c0035 a0002c0004 a0002c0007 a0003c0003 a0004c0002 a0006c0006 a0007c0010 a0012c0016 a0019c0056 a0020c0055 a0034c0031 a0037c0038 a0038c0036 a0043c0025 a0045c0026	a0001c0001t0001 a0001c0027t0002 a0001c0035t0001 others(17): Show a0001c0001t0001 a0001c0027t0002 a0001c0035t0001 a0002c0004t0001 a0002c0004t0002 a0002c0007t0002 a0002c0007t0006 a0003c0003t0001 a0004c0002t0001 a0006c0006t0001 a0006c0006t0005 a0007c0010t0002 a0012c0016t0001 a0019c0056t0001 a0020c0055t0001 a0034c0031t0001 a0037c0038t0001 a0038c0036t0005 a0043c0025t0001 a0045c0026t0001	a0001c0001t0001g0087 a0001c0027t0002g0088 a0001c0035t0001g0020 others(22): Show a0001c0001t0001g0087 a0001c0027t0002g0088 a0001c0035t0001g0020 a0002c0004t0001g0050 a0002c0004t0002g0023 a0002c0004t0002g0024 a0002c0007t0002g0029 a0002c0007t0006g0028 a0003c0003t0001g0051 a0003c0003t0001g0063 a0004c0002t0001g0014 a0004c0002t0001g0015 a0004c0002t0001g0016 a0004c0002t0001g0036 a0006c0006t0001g0049 a0006c0006t0005g0080 a0007c0010t0002g0003 a0012c0016t0001g0044 a0019c0056t0001g0018 a0020c0055t0001g0013 a0034c0031t0001g0006 a0037c0038t0001g0038 a0038c0036t0005g0033 a0043c0025t0001g0007 a0045c0026t0001g0022	25	92	0.2717	-16	c.751 others(33): Show c.7513+899_7513+914delAAGGAAGGAAGGAAGG	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	48/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMCN1_chr1_185729391_186195949	186128855	CTGTCAAT others(9): Show CTGTCAATACTGAGAAA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03041.hp1 HG01192.hp2 HG03041.hp1	a0017 a0024 a0017 a0024	a0017c0054 a0024c0044 a0017c0054 a0024c0044	a0017c0054t0003 a0024c0044t0003 a0017c0054t0003 a0024c0044t0003	a0017c0054t0003g0027 a0024c0044t0003g0071 a0017c0054t0003g0027 a0024c0044t0003g0071	2	92	0.0217	-16	c.129 others(35): Show c.12904+566_12904+581delGTCAATACTGAGAAAT	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	83/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMCN2_chr9_130260760_130439123	130267435	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02976.hp1 HG02897.hp1 HG02976.hp1	a0127 a0131 a0127 a0131	a0127c0167 a0131c0157 a0127c0167 a0131c0157	a0127c0167t0002 a0131c0157t0002 a0127c0167t0002 a0131c0157t0002	a0127c0167t0002g0209 a0131c0157t0002g0206 a0127c0167t0002g0209 a0131c0157t0002g0206	2	258	0.0078	-16	c.259 others(33): Show c.259+1325_259+1340delACACACACACACACAC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	1/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130299510	TCCATTCA others(9): Show TCCATTCATCCATCTAC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01884.hp2 HG02647.hp1 others(3): Show HG01123.hp2 HG01884.hp2 HG02647.hp1 HG02970.hp1 HG03195.hp2 HG03540.hp2	a0012 a0063 a0113 others(2): Show a0012 a0063 a0113 a0114 a0181	a0012c0114 a0012c0115 a0063c0219 others(3): Show a0012c0114 a0012c0115 a0063c0219 a0113c0120 a0114c0220 a0181c0214	a0012c0114t0001 a0012c0115t0001 a0063c0219t0001 others(3): Show a0012c0114t0001 a0012c0115t0001 a0063c0219t0001 a0113c0120t0001 a0114c0220t0001 a0181c0214t0002	a0012c0114t0001g0048 a0012c0115t0001g0049 a0063c0219t0001g0017 others(3): Show a0012c0114t0001g0048 a0012c0115t0001g0049 a0063c0219t0001g0017 a0113c0120t0001g0021 a0114c0220t0001g0045 a0181c0214t0002g0207	6	258	0.0233	-16	c.127 others(33): Show c.1276+236_1276+251delTACCCATTCATCCATC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	8/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130317467	ATCTCTCT others(9): Show ATCTCTCTCTCTCTCTC	A A	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02145.hp2 HG02572.hp2 others(11): Show HG01943.hp1 HG02145.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02809.hp1 HG02922.hp2 HG02970.hp2 HG03195.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 NA19030.hp1	a0010 a0024 a0028 others(11): Show a0010 a0024 a0028 a0039 a0052 a0056 a0062 a0083 a0085 a0090 a0096 a0098 a0126 a0128	a0010c0221 a0024c0164 a0028c0135 others(11): Show a0010c0221 a0024c0164 a0028c0135 a0039c0112 a0052c0218 a0056c0106 a0062c0049 a0083c0068 a0085c0097 a0090c0216 a0096c0091 a0098c0093 a0126c0168 a0128c0165	a0010c0221t0001 a0024c0164t0002 a0028c0135t0002 others(11): Show a0010c0221t0001 a0024c0164t0002 a0028c0135t0002 a0039c0112t0001 a0052c0218t0001 a0056c0106t0001 a0062c0049t0001 a0083c0068t0001 a0085c0097t0001 a0090c0216t0001 a0096c0091t0001 a0098c0093t0001 a0126c0168t0002 a0128c0165t0002	a0010c0221t0001g0257 a0024c0164t0002g0255 a0028c0135t0002g0239 others(11): Show a0010c0221t0001g0257 a0024c0164t0002g0255 a0028c0135t0002g0239 a0039c0112t0001g0070 a0052c0218t0001g0046 a0056c0106t0001g0069 a0062c0049t0001g0004 a0083c0068t0001g0108 a0085c0097t0001g0019 a0090c0216t0001g0047 a0096c0091t0001g0008 a0098c0093t0001g0041 a0126c0168t0002g0238 a0128c0165t0002g0220	14	258	0.0543	-16	c.235 others(35): Show c.2351-2004_2351-1989delCTCTCTCTCTCTCTCT	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130373879	CATGGATG others(9): Show CATGGATGGATGGATGG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0181 a0181	a0181c0214 a0181c0214	a0181c0214t0002 a0181c0214t0002	a0181c0214t0002g0207 a0181c0214t0002g0207	1	258	0.0039	-16	c.743 others(33): Show c.7439-601_7439-586delTGGATGGATGGATGGA	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	48/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMGA1_chr6_34231873_34251231	34241052	CACCTGTG others(9): Show CACCTGTGTGTACTCCT	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA19068.hp1 HG03654.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0024 a0001c0001t0007g0024	2	322	0.0062	-16	c.135 others(31): Show c.135+138_135+153delACCTGTGTGTACTCCT	HMGA1	ENSG00000137309.21	transcript	ENST00000311487.9	protein_coding	3/5			chr6	TogoVar
HMGA2_chr12_65819483_65971291	65824713	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02615.hp1 HG02622.hp1 NA18981.hp2 HG02615.hp1 HG02622.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0058 a0001c0001t0021 a0001c0001t0058	a0001c0001t0021g0170 a0001c0001t0021g0171 a0001c0001t0058g0152 a0001c0001t0021g0170 a0001c0001t0021g0171 a0001c0001t0058g0152	3	236	0.0127	-16	c.-51 others(25): Show c.-517_-502delTCTCTCTCTCTCTCTC	HMGA2	ENSG00000149948.14	transcript	ENST00000403681.7	protein_coding	1/5	502	INFO_REALIGN_3_PRIME	chr12	TogoVar
HMGA2_chr12_65819483_65971291	65875589	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0116	a0001c0001t0116g0219 a0001c0001t0116g0219	1	236	0.0042	-16	c.249 others(35): Show c.249+37046_249+37061delTTTTTTTTTTTTTTTT	HMGA2	ENSG00000149948.14	transcript	ENST00000403681.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
HMGB2_chr4_173326376_173339358	173331364	GTATATAT others(9): Show GTATATATATACATATA	G G	splice_region_variant splice_region_variant	LOW	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0027 a0001c0001t0027g0027	1	370	0.0027	-16	c.70 others(25): Show c.700_*715delTATATGTATATATATA	HMGB2	ENSG00000164104.12	transcript	ENST00000296503.10	protein_coding	5/5			chr4	TogoVar
HMGB2_chr4_173326376_173339358	173338960	ATGTGATC others(9): Show ATGTGATCATAGTGTGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	370	0.0027	-16	c.-47 others(27): Show c.-4725_-4710delCCACACTATGATCACA	HMGB2	ENSG00000164104.12	transcript	ENST00000296503.10	protein_coding		4603		chr4	TogoVar
HMGB3_chrX_150978335_150995771	150983404	GCCGCCGC others(9): Show GCCGCCGCCGCCGCCGC	G G	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0031 a0003c0003t0031	a0003c0003t0031g0078 a0003c0003t0031g0078	1	330	0.0030	-16	c.-6+ others(27): Show c.-6+30_-6+45delCGCCGCCGCCGCCGCC	HMGB3	ENSG00000029993.15	transcript	ENST00000325307.12	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
HMGCLL1_chr6_55429373_55584192	55539859	GAAGAAAG others(9): Show GAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01358.hp2 HG02257.hp1 others(14): Show HG00639.hp2 HG01358.hp2 HG02257.hp1 HG02451.hp2 HG02559.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG04115.hp2 NA18959.hp1 NA18969.hp2 NA18984.hp2 NA18995.hp1 NA19011.hp1 NA19085.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0174 a0001c0001t0001g0182 a0001c0001t0001g0186 others(14): Show a0001c0001t0001g0174 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0302 a0001c0001t0003g0146 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0157 a0001c0001t0004g0205 a0001c0001t0005g0240 a0001c0001t0006g0011 a0001c0001t0007g0189	17	334	0.0509	-16	c.297 others(33): Show c.297+1854_297+1869delTCTTTCTTTCTTTCTT	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	3/8			chr6	TogoVar
HMGCLL1_chr6_55429373_55584192	55539940	AGAAGGAA others(9): Show AGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	334	0.0030	-16	c.297 others(33): Show c.297+1773_297+1788delCTTCCTTCCTTCCTTC	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	3/8			chr6	TogoVar
HMGCLL1_chr6_55429373_55584192	55539982	AAGGAAGG others(9): Show AAGGAAGGAAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01074.hp1 HG00673.hp2 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0120 a0001c0001t0001g0108 a0001c0001t0001g0120	2	334	0.0060	-16	c.297 others(33): Show c.297+1731_297+1746delCCCTTCCTTCCTTCCT	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	3/8			chr6	TogoVar
HMGCLL1_chr6_55429373_55584192	55539986	AAGGAAGG others(9): Show AAGGAAGGAAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG01192.hp2 others(11): Show HG00323.hp1 HG00738.hp1 HG01192.hp2 HG01258.hp1 HG01433.hp2 HG01943.hp1 HG02258.hp2 HG02300.hp2 HG02523.hp1 HG03669.hp2 HG04199.hp2 NA18951.hp1 NA19056.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0045 a0001c0001t0001g0109 a0001c0001t0001g0112 others(11): Show a0001c0001t0001g0045 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0145 a0001c0001t0001g0179 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0170	14	334	0.0419	-16	c.297 others(33): Show c.297+1727_297+1742delCCCTCCCTTCCTTCCT	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	3/8			chr6	TogoVar

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