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
HACD2_chr3_123486554_123590053	123563640	TATATACA others(7): Show TATATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03098.hp2 NA18906.hp1 HG02258.hp1 HG03098.hp2 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0300 a0001c0003t0005g0301 a0001c0003t0005g0302 a0001c0003t0005g0300 a0001c0003t0005g0301 a0001c0003t0005g0302	3	350	0.0086	-14	c.292 others(31): Show c.292+4108_292+4121delGTGTGTGTGTATAT	HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding	3/6			chr3	TogoVar
HACD2_chr3_123486554_123590053	123563642	TATACACA others(7): Show TATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02129.hp1 HG02965.hp2 others(3): Show HG02055.hp1 HG02129.hp1 HG02965.hp2 HG03139.hp1 HG03225.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0007 a0001c0003t0010 others(1): Show a0001c0001t0001 a0001c0003t0007 a0001c0003t0010 a0001c0003t0014	a0001c0001t0001g0149 a0001c0003t0007g0312 a0001c0003t0010g0337 others(3): Show a0001c0001t0001g0149 a0001c0003t0007g0312 a0001c0003t0010g0337 a0001c0003t0010g0338 a0001c0003t0014g0298 a0001c0003t0014g0299	6	350	0.0171	-14	c.292 others(31): Show c.292+4106_292+4119delGTGTGTGTGTGTAT	HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding	3/6			chr3	TogoVar
HACD2_chr3_123486554_123590053	123569988	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp2 HG00597.hp2 others(84): Show HG00099.hp1 HG00558.hp2 HG00597.hp2 HG00642.hp2 HG01081.hp1 HG01123.hp2 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02273.hp2 HG02293.hp2 HG02451.hp1 HG02572.hp1 HG02615.hp2 HG02630.hp2 HG02723.hp2 HG02738.hp2 HG02818.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03669.hp1 HG03831.hp2 HG04115.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18944.hp2 NA18946.hp1 NA18949.hp1 NA18957.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA18998.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19054.hp2 NA19057.hp2 NA19058.hp2 NA19068.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19086.hp1 NA19087.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005	a0001c0001t0006 a0001c0001t0009 a0001c0001t0018 others(10): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0009 a0001c0002t0020 a0001c0002t0022 a0001c0002t0023 a0001c0003t0007 a0001c0003t0010 a0002c0005t0001	a0001c0001t0006g0219 a0001c0001t0006g0225 a0001c0001t0006g0228 others(83): Show a0001c0001t0006g0219 a0001c0001t0006g0225 a0001c0001t0006g0228 a0001c0001t0006g0229 a0001c0001t0006g0231 a0001c0001t0006g0233 a0001c0001t0006g0234 a0001c0001t0006g0235 a0001c0001t0006g0236 a0001c0001t0006g0238 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0241 a0001c0001t0006g0242 a0001c0001t0006g0243 a0001c0001t0006g0250 a0001c0001t0009g0138 a0001c0001t0018g0230 a0001c0002t0001g0001 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0019 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0101 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0002g0041 a0001c0002t0005g0094 a0001c0002t0009g0086 a0001c0002t0009g0100 a0001c0002t0020g0056 a0001c0002t0022g0018 a0001c0002t0023g0058 a0001c0003t0007g0306 a0001c0003t0007g0307 a0001c0003t0007g0308 a0001c0003t0007g0309 a0001c0003t0007g0310 a0001c0003t0007g0311 a0001c0003t0007g0312 a0001c0003t0010g0337 a0001c0003t0010g0338 a0001c0003t0010g0339 a0001c0003t0010g0340 a0002c0005t0001g0341	87	350	0.2486	-14	c.274 others(31): Show c.274-2222_274-2209delTTTTTTTTTTTTTT	HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding	2/6			chr3	TogoVar
HACD3_chr15_65525463_65583349	65537950	AAAAAAAA others(7): Show AAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0185 a0001c0001t0007g0185	1	328	0.0031	-14	c.87+ others(29): Show c.87+7234_87+7247delAAAAAAAATATATA	HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
HACL1_chr3_15555699_15606569	15592060	ATATACGT others(7): Show ATATACGTATATACG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02486.hp2 NA18962.hp2 others(2): Show HG00673.hp1 HG02486.hp2 NA18962.hp2 NA18978.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0056 a0001c0001t0001g0081 a0001c0001t0001g0109 others(2): Show a0001c0001t0001g0056 a0001c0001t0001g0081 a0001c0001t0001g0109 a0001c0001t0001g0133 a0001c0002t0001g0339	5	428	0.0117	-14	c.228 others(29): Show c.228-394_228-381delCGTATATACGTATA	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HACL1_chr3_15555699_15606569	15592467	CACACACG others(7): Show CACACACGTATACAT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02083.hp2 HG02486.hp2 others(4): Show HG02074.hp2 HG02083.hp2 HG02486.hp2 HG02602.hp2 HG02886.hp1 NA18612.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0087 others(4): Show a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0002g0397 a0001c0002t0001g0339	7	428	0.0164	-14	c.228 others(29): Show c.228-801_228-788delATGTATACGTGTGT	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HACL1_chr3_15555699_15606569	15592483	CACTTGTA others(7): Show CACTTGTATACATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	428	0.0023	-14	c.228 others(29): Show c.228-817_228-804delATATGTATACAAGT	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HADHA_chr2_26185635_26249632	26236378	CTCTGTGT others(7): Show CTCTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	274	0.0037	-14	c.314 others(29): Show c.314+463_314+476delCACACACACACAGA	HADHA	ENSG00000084754.12	transcript	ENST00000380649.8	protein_coding	4/19			chr2	TogoVar
HADHB_chr2_26239939_26295465	26269813	TGATGGAC others(7): Show TGATGGACTGCCTTG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02970.hp1 HG01884.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0246 a0001c0001t0001g0078 a0001c0001t0001g0246	2	290	0.0069	-14	c.210 others(29): Show c.210-136_210-123delGGACTGCCTTGGAT	HADHB	ENSG00000138029.14	transcript	ENST00000317799.10	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAGH_chr16_1802629_1831825	1814946	CACACACA others(7): Show CACACACACACATAT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01175.hp2 HG01192.hp1 others(42): Show HG00733.hp1 HG01175.hp2 HG01192.hp1 HG01891.hp1 HG02015.hp2 HG02055.hp2 HG02071.hp1 HG02129.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18941.hp2 NA18948.hp2 NA18950.hp1 NA18968.hp2 NA19007.hp1 NA19030.hp1 NA19043.hp2 NA19057.hp2 NA19065.hp1 NA19067.hp1 NA19074.hp2 NA19086.hp1 NA19240.hp1 NA21309.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0005c0019 a0007c0013	a0001c0001t0005 a0001c0001t0024 a0001c0001t0025 others(5): Show a0001c0001t0005 a0001c0001t0024 a0001c0001t0025 a0001c0003t0002 a0001c0003t0003 a0001c0004t0005 a0005c0019t0003 a0007c0013t0005	a0001c0001t0005g0005 a0001c0001t0005g0019 a0001c0001t0005g0048 others(31): Show a0001c0001t0005g0005 a0001c0001t0005g0019 a0001c0001t0005g0048 a0001c0001t0005g0268 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0005g0287 a0001c0001t0005g0288 a0001c0001t0005g0290 a0001c0001t0005g0291 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0296 a0001c0001t0005g0299 a0001c0001t0024g0303 a0001c0001t0025g0149 a0001c0003t0002g0131 a0001c0003t0003g0031 a0001c0003t0003g0032 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0129 a0001c0003t0003g0130 a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0003t0003g0134 a0001c0003t0003g0135 a0001c0004t0005g0142 a0005c0019t0003g0317 a0007c0013t0005g0300	45	436	0.1032	-14	c.747 others(31): Show c.747+1933_747+1946delATATGTGTGTGTGT	HAGH	ENSG00000063854.13	transcript	ENST00000397356.8	protein_coding	7/8			chr16	TogoVar
HAO1_chr20_7877985_7945458	7935959	TTTTAGTA others(7): Show TTTTAGTAAATATAG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01081.hp1 HG01167.hp1 others(4): Show HG00323.hp2 HG01081.hp1 HG01167.hp1 HG01169.hp2 HG01243.hp1 HG01934.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 others(4): Show a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0208	7	348	0.0201	-14	c.138 others(31): Show c.138-1338_138-1325delCTATATTTACTAAA	HAO1	ENSG00000101323.5	transcript	ENST00000378789.4	protein_coding	1/7			chr20	TogoVar
HAP1_chr17_41717640_41739643	41730099	AAAAGAAA others(7): Show AAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03139.hp2 HG02280.hp2 HG03139.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0164 a0004c0004t0002g0165 a0004c0004t0002g0164 a0004c0004t0002g0165	2	374	0.0054	-14	c.106 others(33): Show c.1069+1380_1069+1393delCTTTTCTTTTCTTT	HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding	6/10			chr17	TogoVar
HAPLN1_chr5_83632805_83725855	83648395	CTATATAT others(7): Show CTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG01081.hp1 others(40): Show HG00140.hp2 HG00280.hp2 HG01081.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG02083.hp1 HG02109.hp2 HG02165.hp2 HG02257.hp1 HG02630.hp2 HG02698.hp2 HG02723.hp2 HG03669.hp2 HG03834.hp2 HG03927.hp2 HG04199.hp2 NA18941.hp2 NA18942.hp2 NA18946.hp1 NA18951.hp2 NA18961.hp2 NA18974.hp1 NA18979.hp1 NA18982.hp2 NA18989.hp1 NA18990.hp2 NA18994.hp1 NA19006.hp2 NA19054.hp1 NA19064.hp1 NA19076.hp2 NA19087.hp2 NA19240.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0009 a0006c0005 a0001c0001 a0002c0009 a0006c0005	a0001c0001t0003 a0001c0001t0006 a0001c0001t0016 others(6): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0016 a0001c0001t0022 a0001c0001t0031 a0001c0001t0032 a0001c0001t0050 a0002c0009t0002 a0006c0005t0003	a0001c0001t0003g0008 a0001c0001t0003g0015 a0001c0001t0003g0023 others(40): Show a0001c0001t0003g0008 a0001c0001t0003g0015 a0001c0001t0003g0023 a0001c0001t0003g0037 a0001c0001t0003g0045 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0073 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0106 a0001c0001t0003g0129 a0001c0001t0003g0156 a0001c0001t0003g0161 a0001c0001t0003g0163 a0001c0001t0003g0165 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0184 a0001c0001t0003g0189 a0001c0001t0003g0191 a0001c0001t0003g0199 a0001c0001t0003g0222 a0001c0001t0003g0273 a0001c0001t0003g0291 a0001c0001t0003g0319 a0001c0001t0003g0327 a0001c0001t0003g0342 a0001c0001t0006g0228 a0001c0001t0006g0283 a0001c0001t0006g0353 a0001c0001t0016g0071 a0001c0001t0016g0072 a0001c0001t0016g0093 a0001c0001t0022g0188 a0001c0001t0031g0162 a0001c0001t0032g0069 a0001c0001t0050g0368 a0002c0009t0002g0032 a0006c0005t0003g0286	43	372	0.1156	-14	c.473 others(31): Show c.473-3744_473-3731delTATATATATATATA	HAPLN1	ENSG00000145681.11	transcript	ENST00000274341.9	protein_coding	3/4			chr5	TogoVar
HAPLN3_chr15_88872294_88900544	88885802	GCCTTGAA others(7): Show GCCTTGAACTCCTGA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	436	0.0023	-14	c.124 others(31): Show c.124+1359_124+1372delTCAGGAGTTCAAGG	HAPLN3	ENSG00000140511.12	transcript	ENST00000359595.8	protein_coding	2/4			chr15	TogoVar
HARBI1_chr11_46597861_46622227	46619372	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	258	0.0039	-14	c.-24 others(25): Show c.-2407_-2394delAAAAAAAAAAAAAA	HARBI1	ENSG00000180423.4	transcript	ENST00000326737.3	protein_coding		2146		chr11	TogoVar
HARBI1_chr11_46597861_46622227	46622076	CATATATA others(7): Show CATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02602.hp1 HG02717.hp1 others(6): Show HG02165.hp2 HG02602.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG03041.hp2 HG03209.hp2 NA18942.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0021 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0127 a0001c0001t0001g0137 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0165 a0001c0001t0003g0179	9	258	0.0349	-14	c.-51 others(25): Show c.-5111_-5098delATATATATATATAT	HARBI1	ENSG00000180423.4	transcript	ENST00000326737.3	protein_coding		4850		chr11	TogoVar
HARS2_chr5_140686455_140704305	140700753	GCGGTTCC others(7): Show GCGGTTCCCTGCTTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	384	0.0026	-14	c.22 others(25): Show c.2202_*2215delCGGTTCCCTGCTTC	HARS2	ENSG00000112855.17	transcript	ENST00000230771.9	protein_coding		1449		chr5	TogoVar
HAS1_chr19_51708112_51728991	51722771	AAAAGCCT others(7): Show AAAAGCCTCAAATAT	A A	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0002 a0016c0018t0002	a0016c0018t0002g0157 a0016c0018t0002g0157	1	464	0.0022	-14	c.9+1 others(27): Show c.9+1140_9+1153delATATTTGAGGCTTT	HAS1	ENSG00000105509.11	transcript	ENST00000540069.7	protein_coding	1/4			chr19	TogoVar
HAS2_chr8_121607116_121646440	121607240	ATCTGATA others(7): Show ATCTGATATCTTATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00544.hp2 others(226): Show HG00280.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03209.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(59): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0046 a0001c0001t0048 a0001c0001t0050 a0001c0001t0052 a0001c0001t0053 a0001c0001t0058 a0001c0001t0060 a0001c0001t0062 a0001c0001t0065 a0001c0001t0067 a0001c0001t0069 a0001c0001t0071 a0001c0001t0073 a0001c0001t0074 a0001c0001t0079 a0001c0001t0080 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0089 a0001c0001t0090 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0098 a0001c0001t0104 a0001c0001t0107 a0001c0001t0112 a0001c0002t0040	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(166): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0003g0012 a0001c0001t0003g0025 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0186 a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0004g0013 a0001c0001t0004g0030 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0229 a0001c0001t0004g0231 a0001c0001t0004g0232 a0001c0001t0004g0235 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0005g0068 a0001c0001t0005g0069 a0001c0001t0005g0070 a0001c0001t0005g0072 a0001c0001t0005g0074 a0001c0001t0006g0046 a0001c0001t0006g0047 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0051 a0001c0001t0006g0055 a0001c0001t0007g0158 a0001c0001t0007g0159 a0001c0001t0007g0160 a0001c0001t0007g0162 a0001c0001t0007g0164 a0001c0001t0007g0169 a0001c0001t0008g0015 a0001c0001t0008g0272 a0001c0001t0008g0274 a0001c0001t0008g0275 a0001c0001t0008g0277 a0001c0001t0010g0204 a0001c0001t0010g0208 a0001c0001t0010g0211 a0001c0001t0013g0011 a0001c0001t0013g0174 a0001c0001t0013g0177 a0001c0001t0014g0205 a0001c0001t0014g0207 a0001c0001t0014g0209 a0001c0001t0015g0179 a0001c0001t0015g0188 a0001c0001t0015g0189 a0001c0001t0015g0190 a0001c0001t0016g0029 a0001c0001t0017g0254 a0001c0001t0017g0256 a0001c0001t0017g0257 a0001c0001t0017g0258 a0001c0001t0022g0026 a0001c0001t0022g0187 a0001c0001t0024g0271 a0001c0001t0025g0280 a0001c0001t0025g0283 a0001c0001t0026g0039 a0001c0001t0026g0040 a0001c0001t0027g0058 a0001c0001t0027g0059 a0001c0001t0030g0107 a0001c0001t0031g0082 a0001c0001t0031g0101 a0001c0001t0032g0131 a0001c0001t0032g0132 a0001c0001t0033g0136 a0001c0001t0034g0140 a0001c0001t0037g0151 a0001c0001t0037g0153 a0001c0001t0038g0024 a0001c0001t0039g0175 a0001c0001t0039g0178 a0001c0001t0041g0217 a0001c0001t0041g0219 a0001c0001t0042g0224 a0001c0001t0043g0028 a0001c0001t0046g0045 a0001c0001t0048g0060 a0001c0001t0050g0065 a0001c0001t0052g0073 a0001c0001t0053g0110 a0001c0001t0058g0133 a0001c0001t0060g0135 a0001c0001t0062g0147 a0001c0001t0065g0149 a0001c0001t0067g0152 a0001c0001t0069g0155 a0001c0001t0071g0167 a0001c0001t0073g0165 a0001c0001t0074g0161 a0001c0001t0079g0176 a0001c0001t0080g0183 a0001c0001t0082g0196 a0001c0001t0083g0197 a0001c0001t0084g0198 a0001c0001t0085g0199 a0001c0001t0089g0214 a0001c0001t0090g0215 a0001c0001t0092g0218 a0001c0001t0093g0220 a0001c0001t0094g0222 a0001c0001t0095g0223 a0001c0001t0096g0225 a0001c0001t0098g0253 a0001c0001t0104g0265 a0001c0001t0107g0270 a0001c0001t0112g0282 a0001c0002t0040g0201	229	376	0.6090	-14	c.68 others(25): Show c.6855_*6868delAATAAGATATCAGA	HAS2	ENSG00000170961.7	transcript	ENST00000303924.5	protein_coding		4875		chr8	TogoVar
HAS2_chr8_121607116_121646440	121625675	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	376	0.0027	-14	c.627 others(31): Show c.627+3025_627+3038delAAAAAAAAAAAAAA	HAS2	ENSG00000170961.7	transcript	ENST00000303924.5	protein_coding	2/3			chr8	TogoVar
HAS2_chr8_121607116_121646440	121634523	CAGGGGAG others(7): Show CAGGGGAGCTTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01261.hp2 HG01891.hp1 others(4): Show HG01167.hp2 HG01261.hp2 HG01891.hp1 HG03041.hp1 HG03130.hp2 HG03516.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0040 a0001c0002t0077 others(1): Show a0001c0002t0023 a0001c0002t0040 a0001c0002t0077 a0001c0002t0078	a0001c0002t0023g0014 a0001c0002t0040g0201 a0001c0002t0040g0202 others(2): Show a0001c0002t0023g0014 a0001c0002t0040g0201 a0001c0002t0040g0202 a0001c0002t0077g0172 a0001c0002t0078g0173	7	376	0.0186	-14	c.1-5 others(27): Show c.1-5197_1-5184delACACAAGCTCCCCT	HAS2	ENSG00000170961.7	transcript	ENST00000303924.5	protein_coding	1/3			chr8	TogoVar
HAS3_chr16_69100653_69122660	69103003	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG03669.hp1 HG03710.hp1 others(2): Show HG01346.hp1 HG03669.hp1 HG03710.hp1 NA18964.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0012 a0001c0001t0001 a0001c0003t0012	a0001c0001t0001g0002 a0001c0003t0012g0031 a0001c0003t0012g0058 a0001c0001t0001g0002 a0001c0003t0012g0031 a0001c0003t0012g0058	5	410	0.0122	-14	c.-27 others(25): Show c.-2784_-2771delTGTGTGTGTGTGTG	HAS3	ENSG00000103044.11	transcript	ENST00000569188.6	protein_coding		2649		chr16	TogoVar
HAS3_chr16_69100653_69122660	69104992	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG03139.hp2 NA18968.hp2 others(3): Show HG02004.hp1 HG03139.hp2 NA18968.hp2 NA18985.hp2 NA18998.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0035 a0001c0001t0003g0050 others(1): Show a0001c0001t0003g0026 a0001c0001t0003g0035 a0001c0001t0003g0050 a0001c0001t0003g0094	6	410	0.0146	-14	c.-79 others(23): Show c.-795_-782delTTTTTTTTTTTTTT	HAS3	ENSG00000103044.11	transcript	ENST00000569188.6	protein_coding		660		chr16	TogoVar
HAS3_chr16_69100653_69122660	69111157	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	410	0.0024	-14	c.636 others(31): Show c.636+1145_636+1158delTTTTTTTTTTTTTT	HAS3	ENSG00000103044.11	transcript	ENST00000569188.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
HAT1_chr2_171917461_171988686	171938024	TTCTCTCT others(7): Show TTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp2 HG00609.hp2 others(38): Show HG00099.hp2 HG00558.hp2 HG00609.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01261.hp1 HG01433.hp2 HG01975.hp1 HG01978.hp2 HG02027.hp1 HG02083.hp1 HG02683.hp1 HG02738.hp1 HG03017.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03710.hp1 HG03834.hp1 NA18946.hp1 NA18949.hp1 NA18952.hp2 NA18981.hp1 NA18986.hp1 NA18998.hp2 NA19003.hp1 NA19011.hp2 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19081.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(38): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0068	41	326	0.1258	-14	c.113 others(31): Show c.113-8646_113-8633delCTCTCTCTCTCTCT	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAT1_chr2_171917461_171988686	171970496	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00597.hp1 others(54): Show HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG01257.hp2 HG01258.hp2 HG01433.hp1 HG01934.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02132.hp1 HG02165.hp1 HG02523.hp2 HG02602.hp1 HG03654.hp1 HG04184.hp1 HG04228.hp1 NA18747.hp1 NA18941.hp2 NA18943.hp1 NA18946.hp2 NA18953.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18971.hp2 NA18974.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18986.hp2 NA18990.hp2 NA18994.hp1 NA18995.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19054.hp1 NA19058.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19081.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0148 a0001c0001t0001g0149 others(54): Show a0001c0001t0001g0069 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0251 a0001c0001t0001g0257 a0001c0001t0001g0258	57	326	0.1749	-14	c.823 others(31): Show c.823+3575_823+3588delTTTTTTTTTTTTTT	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAUS2_chr15_42543838_42574994	42565073	GTGATCCA others(7): Show GTGATCCACCTGCCT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	350	0.0029	-14	c.498 others(31): Show c.498+1217_498+1230delTGATCCACCTGCCT	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	5/5			chr15	TogoVar
HAUS2_chr15_42543838_42574994	42565387	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01168.hp1 HG02145.hp1 others(4): Show HG00642.hp2 HG01168.hp1 HG02145.hp1 HG02148.hp1 HG02258.hp1 HG02886.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0030 a0001c0001t0003 a0001c0001t0019 a0001c0001t0030	a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 others(4): Show a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0049 a0001c0001t0019g0026 a0001c0001t0019g0038 a0001c0001t0030g0037	7	350	0.0200	-14	c.499 others(31): Show c.499-1188_499-1175delGTGTGTGTGTGTGT	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
HAUS3_chr4_2223349_2247121	2243903	GAGAGAGA others(7): Show GAGAGAGACAGAAAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	330	0.0030	-14	c.-22 others(25): Show c.-2285_-2272delGTTTCTGTCTCTCT	HAUS3	ENSG00000214367.10	transcript	ENST00000443786.3	protein_coding		1783		chr4	TogoVar
HAUS8_chr19_17044729_17080452	17051729	ACGACCAC others(7): Show ACGACCACAGCTCAT	A A	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0309 a0001c0003t0002g0309	1	400	0.0025	-14	c.929 others(31): Show c.929+1082_929+1095delATGAGCTGTGGTCG	HAUS8	ENSG00000131351.15	transcript	ENST00000253669.10	protein_coding	10/10			chr19	TogoVar
HAUS8_chr19_17044729_17080452	17055131	AAAAAAAA others(7): Show AAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0159 a0002c0001t0001g0159	1	400	0.0025	-14	c.787 others(29): Show c.787+716_787+729delATTTTTTTTTTTTT	HAUS8	ENSG00000131351.15	transcript	ENST00000253669.10	protein_coding	9/10			chr19	TogoVar
HAUS8_chr19_17044729_17080452	17055143	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03669.hp2 HG02572.hp1 HG03669.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0055 a0002c0001t0001g0291 a0001c0002t0001g0055 a0002c0001t0001g0291	2	400	0.0050	-14	c.787 others(29): Show c.787+704_787+717delATATATATATATAT	HAUS8	ENSG00000131351.15	transcript	ENST00000253669.10	protein_coding	9/10			chr19	TogoVar
HAUS8_chr19_17044729_17080452	17069606	GCCCAACC others(7): Show GCCCAACCCCAGGTC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(170): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02071.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18940.hp1 NA18940.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp2 NA18992.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp2 NA19002.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19075.hp2 NA19079.hp1 NA19080.hp1 NA19083.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0002 a0002c0001 a0002c0007 others(2): Show a0001c0002 a0002c0001 a0002c0007 a0004c0006 a0006c0009	a0001c0002t0001 a0002c0001t0001 a0002c0001t0002 others(3): Show a0001c0002t0001 a0002c0001t0001 a0002c0001t0002 a0002c0007t0001 a0004c0006t0001 a0006c0009t0001	a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0055 others(162): Show a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0055 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0134 a0002c0001t0001g0002 a0002c0001t0001g0012 a0002c0001t0001g0013 a0002c0001t0001g0014 a0002c0001t0001g0015 a0002c0001t0001g0016 a0002c0001t0001g0024 a0002c0001t0001g0025 a0002c0001t0001g0026 a0002c0001t0001g0139 a0002c0001t0001g0140 a0002c0001t0001g0141 a0002c0001t0001g0142 a0002c0001t0001g0143 a0002c0001t0001g0144 a0002c0001t0001g0145 a0002c0001t0001g0146 a0002c0001t0001g0147 a0002c0001t0001g0148 a0002c0001t0001g0149 a0002c0001t0001g0150 a0002c0001t0001g0151 a0002c0001t0001g0152 a0002c0001t0001g0153 a0002c0001t0001g0154 a0002c0001t0001g0155 a0002c0001t0001g0156 a0002c0001t0001g0157 a0002c0001t0001g0158 a0002c0001t0001g0159 a0002c0001t0001g0160 a0002c0001t0001g0161 a0002c0001t0001g0162 a0002c0001t0001g0163 a0002c0001t0001g0164 a0002c0001t0001g0165 a0002c0001t0001g0166 a0002c0001t0001g0167 a0002c0001t0001g0168 a0002c0001t0001g0169 a0002c0001t0001g0170 a0002c0001t0001g0171 a0002c0001t0001g0172 a0002c0001t0001g0174 a0002c0001t0001g0176 a0002c0001t0001g0177 a0002c0001t0001g0178 a0002c0001t0001g0182 a0002c0001t0001g0184 a0002c0001t0001g0185 a0002c0001t0001g0186 a0002c0001t0001g0187 a0002c0001t0001g0188 a0002c0001t0001g0189 a0002c0001t0001g0190 a0002c0001t0001g0191 a0002c0001t0001g0192 a0002c0001t0001g0193 a0002c0001t0001g0194 a0002c0001t0001g0195 a0002c0001t0001g0197 a0002c0001t0001g0198 a0002c0001t0001g0200 a0002c0001t0001g0201 a0002c0001t0001g0202 a0002c0001t0001g0203 a0002c0001t0001g0205 a0002c0001t0001g0206 a0002c0001t0001g0207 a0002c0001t0001g0208 a0002c0001t0001g0209 a0002c0001t0001g0210 a0002c0001t0001g0211 a0002c0001t0001g0212 a0002c0001t0001g0213 a0002c0001t0001g0214 a0002c0001t0001g0215 a0002c0001t0001g0217 a0002c0001t0001g0218 a0002c0001t0001g0219 a0002c0001t0001g0220 a0002c0001t0001g0221 a0002c0001t0001g0222 a0002c0001t0001g0223 a0002c0001t0001g0224 a0002c0001t0001g0225 a0002c0001t0001g0229 a0002c0001t0001g0230 a0002c0001t0001g0231 a0002c0001t0001g0232 a0002c0001t0001g0233 a0002c0001t0001g0234 a0002c0001t0001g0235 a0002c0001t0001g0236 a0002c0001t0001g0237 a0002c0001t0001g0238 a0002c0001t0001g0239 a0002c0001t0001g0240 a0002c0001t0001g0247 a0002c0001t0001g0248 a0002c0001t0001g0249 a0002c0001t0001g0251 a0002c0001t0001g0255 a0002c0001t0001g0256 a0002c0001t0001g0258 a0002c0001t0001g0259 a0002c0001t0001g0260 a0002c0001t0001g0261 a0002c0001t0001g0262 a0002c0001t0001g0263 a0002c0001t0001g0264 a0002c0001t0001g0265 a0002c0001t0001g0267 a0002c0001t0001g0268 a0002c0001t0001g0269 a0002c0001t0001g0271 a0002c0001t0001g0274 a0002c0001t0001g0275 a0002c0001t0001g0276 a0002c0001t0001g0277 a0002c0001t0001g0278 a0002c0001t0001g0282 a0002c0001t0001g0283 a0002c0001t0001g0284 a0002c0001t0001g0285 a0002c0001t0001g0286 a0002c0001t0001g0289 a0002c0001t0001g0290 a0002c0001t0001g0291 a0002c0001t0001g0322 a0002c0001t0001g0339 a0002c0001t0001g0342 a0002c0001t0002g0338 a0002c0007t0001g0180 a0002c0007t0001g0183 a0002c0007t0001g0204 a0002c0007t0001g0216 a0002c0007t0001g0226 a0002c0007t0001g0227 a0002c0007t0001g0228 a0002c0007t0001g0257 a0002c0007t0001g0266 a0004c0006t0001g0017 a0004c0006t0001g0179 a0004c0006t0001g0241 a0004c0006t0001g0242 a0004c0006t0001g0243 a0004c0006t0001g0244 a0004c0006t0001g0245 a0004c0006t0001g0246 a0004c0006t0001g0254 a0004c0006t0001g0272 a0004c0006t0001g0279 a0004c0006t0001g0280 a0004c0006t0001g0281 a0004c0006t0001g0287 a0004c0006t0001g0288 a0006c0009t0001g0181	173	400	0.4325	-14	c.92- others(27): Show c.92-534_92-521delGACCTGGGGTTGGG	HAUS8	ENSG00000131351.15	transcript	ENST00000253669.10	protein_coding	2/10			chr19	TogoVar
HAVCR1_chr5_157024413_157064116	157044354	GGAGAAAG others(7): Show GGAGAAAGAAAGGAC	G G	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19090.hp2 NA19005.hp2 NA19090.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0298 a0005c0005t0001g0299 a0005c0005t0001g0298 a0005c0005t0001g0299	2	352	0.0057	-14	c.782 others(31): Show c.782-1686_782-1673delGTCCTTTCTTTCTC	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044390	AAGGAAGG others(7): Show AAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	352	0.0028	-14	c.782 others(31): Show c.782-1722_782-1709delCTTCCTTCCTTCCT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044394	AAGGAAGG others(7): Show AAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA20905.hp2 NA19079.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0155 a0001c0001t0001g0128 a0001c0001t0001g0155	2	352	0.0057	-14	c.782 others(31): Show c.782-1726_782-1713delCTTCCTTCCTTCCT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044398	AAGGAAGG others(7): Show AAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG01167.hp1 others(11): Show HG00099.hp1 HG00558.hp1 HG01167.hp1 HG01891.hp1 HG02135.hp1 HG02602.hp2 HG02738.hp1 HG03710.hp1 NA18942.hp2 NA18943.hp1 NA18966.hp1 NA18986.hp1 NA18986.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0057 a0001c0001t0001g0103 a0001c0001t0001g0118 others(11): Show a0001c0001t0001g0057 a0001c0001t0001g0103 a0001c0001t0001g0118 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0190 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0303 a0001c0001t0002g0036 a0001c0001t0002g0039	14	352	0.0398	-14	c.782 others(31): Show c.782-1730_782-1717delCTTCCTTCCTTCCT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044407	AGGAAGGA others(7): Show AGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	352	0.0028	-14	c.782 others(31): Show c.782-1739_782-1726delCCTTCCTTCCTTCC	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044601	AAGAAAGA others(7): Show AAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp1 HG02572.hp2 others(5): Show HG01243.hp1 HG02258.hp1 HG02572.hp2 HG02717.hp1 NA18951.hp1 NA18962.hp2 NA18963.hp2 NA18987.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0007 a0002c0002 a0004c0007	a0002c0002t0001 a0004c0007t0001 a0002c0002t0001 a0004c0007t0001	a0002c0002t0001g0004 a0002c0002t0001g0064 a0002c0002t0001g0066 others(4): Show a0002c0002t0001g0004 a0002c0002t0001g0064 a0002c0002t0001g0066 a0004c0007t0001g0267 a0004c0007t0001g0268 a0004c0007t0001g0300 a0004c0007t0001g0301	8	352	0.0227	-14	c.782 others(31): Show c.782-1933_782-1920delCTTTCTTTCTTTCT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157057380	GAGAGAGG others(7): Show GAGAGAGGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01928.hp1 HG01167.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0169 a0001c0001t0001g0170	2	352	0.0057	-14	c.46+ others(27): Show c.46+504_46+517delTTTCTTTCCTCTCT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	2/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157057384	GAGGAAAG others(7): Show GAGGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA20129.hp1 HG02486.hp1 NA20129.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0049 a0009c0009t0001g0343 a0009c0009t0001g0049 a0009c0009t0001g0343	2	352	0.0057	-14	c.46+ others(27): Show c.46+500_46+513delTTTCTTTCTTTCCT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	2/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157057386	GGAAAGAA others(7): Show GGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0197 a0002c0002t0001g0197	1	352	0.0028	-14	c.46+ others(27): Show c.46+498_46+511delTCTTTCTTTCTTTC	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	2/8			chr5	TogoVar
HBM_chr16_160978_171764	163418	CATAGGGA others(7): Show CATAGGGAGGGGACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00642.hp2 others(24): Show HG00408.hp1 HG00438.hp2 HG00642.hp2 HG01192.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02129.hp1 HG03942.hp2 HG04184.hp1 NA18947.hp2 NA18955.hp1 NA18962.hp2 NA18965.hp2 NA18970.hp2 NA18974.hp2 NA19005.hp1 NA19009.hp1 NA19043.hp2 NA19054.hp2 NA19077.hp1 NA19088.hp2 NA19089.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0001 a0001c0009t0001g0001 a0001c0001t0001g0001 a0001c0009t0001g0001	27	370	0.0730	-14	c.-25 others(25): Show c.-2579_-2566delATAGGGAGGGGACA	HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding		2559		chr16	TogoVar
HBM_chr16_160978_171764	163740	CATGGGGA others(7): Show CATGGGGAGGGCACA	C C	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	-14	c.-22 others(25): Show c.-2257_-2244delATGGGGAGGGCACA	HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding		2237		chr16	TogoVar
HBS1L_chr6_134955378_135059822	135027208	AAAAAAAA others(7): Show AAAAAAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0045 a0006c0010t0045	a0006c0010t0045g0071 a0006c0010t0045g0071	1	348	0.0029	-14	c.430 others(33): Show c.430+12351_430+12364delCTTTTCTTTTTTTT	HBS1L	ENSG00000112339.15	transcript	ENST00000367837.10	protein_coding	4/17			chr6	TogoVar
HBS1L_chr6_134955378_135059822	135042825	ACAAAAAA others(7): Show ACAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG03041.hp2 others(1): Show HG02895.hp1 HG02897.hp2 HG03041.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0034 a0001c0001t0035 others(1): Show a0001c0001t0002 a0001c0001t0034 a0001c0001t0035 a0001c0001t0047	a0001c0001t0002g0293 a0001c0001t0034g0254 a0001c0001t0035g0255 others(1): Show a0001c0001t0002g0293 a0001c0001t0034g0254 a0001c0001t0035g0255 a0001c0001t0047g0256	4	348	0.0115	-14	c.110 others(29): Show c.110-713_110-700delGTTTTTTTTTTTTG	HBS1L	ENSG00000112339.15	transcript	ENST00000367837.10	protein_coding	2/17			chr6	TogoVar
HCFC2_chr12_104059531_104111524	104087471	ATATATAT others(7): Show ATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02717.hp1 HG02809.hp2 others(2): Show HG02572.hp1 HG02717.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0010 a0001c0001t0009g0010	5	382	0.0131	-14	c.123 others(31): Show c.1231+470_1231+483delTGTATATATATATA	HCFC2	ENSG00000111727.12	transcript	ENST00000229330.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
HCK_chr20_32047242_32106856	32054475	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02040.hp1 HG02055.hp2 others(11): Show HG00099.hp2 HG02040.hp1 HG02055.hp2 HG02559.hp2 HG02723.hp2 HG02809.hp1 HG03098.hp2 NA18522.hp1 NA18522.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0002c0004 others(2): Show a0001c0001 a0001c0002 a0002c0004 a0004c0005 a0005c0008	a0001c0001t0001 a0001c0002t0001 a0002c0004t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0002c0004t0001 a0004c0005t0001 a0005c0008t0001	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 others(11): Show a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0205 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0002t0001g0229 a0001c0002t0001g0230 a0002c0004t0001g0204 a0004c0005t0001g0127 a0005c0008t0001g0125	14	290	0.0483	-14	c.62+ others(29): Show c.62+2025_62+2038delAAAAAAAAAAAAAA	HCK	ENSG00000101336.18	transcript	ENST00000375852.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
HCK_chr20_32047242_32106856	32094793	GAAAGAAA others(7): Show GAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02148.hp2 NA20805.hp1 HG02148.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0001g0269 a0001c0001t0001g0273	2	290	0.0069	-14	c.124 others(31): Show c.1246+779_1246+792delAAGAAAGAAAGAAA	HCK	ENSG00000101336.18	transcript	ENST00000375852.5	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
HCK_chr20_32047242_32106856	32094797	GAAAGAAA others(7): Show GAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	290	0.0035	-14	c.124 others(31): Show c.1246+783_1246+796delAAGAAAGAAAGAAA	HCK	ENSG00000101336.18	transcript	ENST00000375852.5	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr20	TogoVar

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