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
HS3ST2_chr16_22809162_22921338	22888384	T T	TTCTTTTT others(4): Show TTCTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(125): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02602.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03195.hp2 HG03239.hp1 HG03669.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04184.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp2 NA18942.hp1 NA18946.hp2 NA18955.hp1 NA18957.hp1 NA18961.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp2 NA19009.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0004c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0004t0002 a0001c0005t0002 a0001c0005t0006 a0001c0006t0006 a0004c0007t0001	a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 others(125): Show a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0230 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0299 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0339 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0004g0152 a0001c0001t0004g0193 a0001c0001t0007g0165 a0001c0001t0009g0209 a0001c0001t0009g0239 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0086 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0103 a0001c0002t0001g0110 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0121 a0001c0002t0004g0049 a0001c0002t0004g0088 a0001c0002t0004g0096 a0001c0002t0004g0097 a0001c0002t0004g0137 a0001c0002t0005g0123 a0001c0002t0005g0125 a0001c0002t0005g0128 a0001c0002t0005g0129 a0001c0002t0005g0131 a0001c0002t0005g0132 a0001c0002t0005g0135 a0001c0002t0005g0141 a0001c0002t0007g0044 a0001c0002t0007g0047 a0001c0002t0008g0133 a0001c0002t0008g0134 a0001c0002t0008g0136 a0001c0002t0008g0139 a0001c0002t0008g0143 a0001c0004t0002g0144 a0001c0004t0002g0183 a0001c0004t0002g0184 a0001c0004t0002g0261 a0001c0004t0002g0272 a0001c0004t0002g0307 a0001c0004t0002g0338 a0001c0005t0002g0005 a0001c0005t0002g0009 a0001c0005t0002g0060 a0001c0005t0002g0082 a0001c0005t0006g0038 a0001c0006t0006g0016 a0001c0006t0006g0023 a0001c0006t0006g0025 a0004c0007t0001g0221 a0004c0007t0001g0222	128	350	0.3657	11	c.486 others(30): Show c.486-26559_486-26558insCTTTTTTTTCT	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST2_chr16_22809162_22921338	22914736	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19006.hp1 NA20300.hp2 HG03098.hp1 NA19006.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0287 a0001c0001t0001g0343 a0001c0002t0001g0011 a0001c0001t0001g0287 a0001c0001t0001g0343 a0001c0002t0001g0011	3	350	0.0086	11	c.486 others(26): Show c.486-190_486-180dupAAAAAAAAAAA	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST2_chr16_22809162_22921338	22914763	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03486.hp1 HG03831.hp2 HG02809.hp1 HG03486.hp1 HG03831.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0002 a0001c0006t0006 a0001c0004t0002 a0001c0006t0006	a0001c0004t0002g0267 a0001c0004t0002g0272 a0001c0006t0006g0026 a0001c0004t0002g0267 a0001c0004t0002g0272 a0001c0006t0006g0026	3	350	0.0086	11	c.486 others(26): Show c.486-180_486-179insAAAAAAAAAGA	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST3A1_chr17_13489032_13606929	13512305	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0313 a0001c0001t0018g0313	1	338	0.0030	11	c.600 others(30): Show c.600-15498_600-15488dupTTTTTTTTTTT	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HS3ST3A1_chr17_13489032_13606929	13534547	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG01346.hp2 others(1): Show HG00099.hp1 HG00438.hp2 HG01346.hp2 NA18980.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0003 a0004c0008t0001 a0001c0001t0003 a0004c0008t0001	a0001c0001t0003g0118 a0001c0001t0003g0149 a0001c0001t0003g0167 others(1): Show a0001c0001t0003g0118 a0001c0001t0003g0149 a0001c0001t0003g0167 a0004c0008t0001g0175	4	338	0.0118	11	c.600 others(30): Show c.600-37740_600-37730dupTTTTTTTTTTT	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HS3ST3A1_chr17_13489032_13606929	13560289	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG03041.hp1 NA18993.hp1 HG02071.hp1 HG03041.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0007t0045 a0001c0001t0003 a0001c0007t0045	a0001c0001t0003g0103 a0001c0001t0003g0169 a0001c0007t0045g0055 a0001c0001t0003g0103 a0001c0001t0003g0169 a0001c0007t0045g0055	3	338	0.0089	11	c.599 others(30): Show c.599+40231_599+40241dupTTTTTTTTTTT	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HS3ST3A1_chr17_13489032_13606929	13585186	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0184 a0001c0001t0068g0184	1	338	0.0030	11	c.599 others(30): Show c.599+15334_599+15344dupAAAAAAAAAAA	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HS3ST3A1_chr17_13489032_13606929	13593233	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02040.hp1 HG02083.hp1 others(8): Show HG01891.hp2 HG02040.hp1 HG02083.hp1 HG02717.hp2 HG02735.hp1 HG02895.hp1 HG02922.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0009 a0001c0001t0020 others(5): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0020 a0001c0001t0034 a0001c0001t0076 a0001c0002t0005 a0001c0002t0016 a0001c0002t0025	a0001c0001t0008g0047 a0001c0001t0008g0048 a0001c0001t0009g0323 others(8): Show a0001c0001t0008g0047 a0001c0001t0008g0048 a0001c0001t0009g0323 a0001c0001t0020g0045 a0001c0001t0020g0046 a0001c0001t0034g0324 a0001c0001t0076g0300 a0001c0002t0005g0043 a0001c0002t0005g0068 a0001c0002t0016g0301 a0001c0002t0025g0044	11	338	0.0325	11	c.599 others(28): Show c.599+7287_599+7297dupTTTTTTTTTTT	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HS3ST3B1_chr17_14296081_14354404	14329354	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0349 a0001c0002t0003g0349	1	432	0.0023	11	c.555 others(30): Show c.555-15671_555-15661dupGAAAGAAAGAA	HS3ST3B1	ENSG00000125430.9	transcript	ENST00000360954.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr17	TogoVar
HS3ST3B1_chr17_14296081_14354404	14329366	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0118 a0001c0002t0001g0118	1	432	0.0023	11	c.555 others(30): Show c.555-15660_555-15659insGAAAGAAAGAA	HS3ST3B1	ENSG00000125430.9	transcript	ENST00000360954.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr17	TogoVar
HS3ST3B1_chr17_14296081_14354404	14330584	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0088 a0001c0002t0009g0088	1	432	0.0023	11	c.555 others(30): Show c.555-14444_555-14443insGTGTGTGTGTG	HS3ST3B1	ENSG00000125430.9	transcript	ENST00000360954.3	protein_coding	1/1			chr17	TogoVar
HS3ST4_chr16_25686959_26142685	25741365	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 NA18968.hp2 others(1): Show HG00609.hp1 HG00609.hp2 NA18968.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0017 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0017 a0001c0001t0038	a0001c0001t0004g0090 a0001c0001t0006g0028 a0001c0001t0017g0092 others(1): Show a0001c0001t0004g0090 a0001c0001t0006g0028 a0001c0001t0017g0092 a0001c0001t0038g0053	4	164	0.0244	11	c.734 others(30): Show c.734+48229_734+48239dupAAAAAAAAAAA	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25828305	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0150 a0001c0001t0003g0150	1	164	0.0061	11	c.734 others(32): Show c.734+135154_734+135155insTTCTTTCTTTC	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1			chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25828338	C C	CTCTCTCT others(4): Show CTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0079 a0001c0001t0003g0079	1	164	0.0061	11	c.734 others(32): Show c.734+135188_734+135189insCTCTCTCTCTT	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25828339	T T	TCTCTCTC others(4): Show TCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	164	0.0061	11	c.734 others(32): Show c.734+135188_734+135189insCTCTCTCTCTC	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1			chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25857969	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	164	0.0061	11	c.734 others(32): Show c.734+164822_734+164823insTTCTTTCTTCT	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST5_chr6_114050596_114348023	114161575	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0090 a0001c0002t0013g0090	1	206	0.0049	11	c.-33 others(28): Show c.-33+6775_-33+6776insATATATATATA	HS3ST5	ENSG00000249853.9	transcript	ENST00000312719.10	protein_coding	3/4			chr6	TogoVar
HS3ST5_chr6_114050596_114348023	114288655	C C	CAGTGATT others(4): Show CAGTGATTATCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(143): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18942.hp1 NA18969.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18995.hp2 NA19003.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19057.hp1 NA19086.hp1 NA19086.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(39): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0002t0001 a0001c0002t0008 a0001c0002t0010 a0001c0002t0013 a0001c0002t0018 a0001c0002t0026 a0001c0002t0027 a0001c0002t0038 a0001c0002t0042 a0001c0003t0001 a0001c0003t0037	a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0099 others(143): Show a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0169 a0001c0001t0002g0195 a0001c0001t0002g0203 a0001c0001t0003g0098 a0001c0001t0003g0107 a0001c0001t0003g0117 a0001c0001t0003g0123 a0001c0001t0003g0129 a0001c0001t0003g0140 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0004g0091 a0001c0001t0004g0096 a0001c0001t0004g0103 a0001c0001t0004g0112 a0001c0001t0004g0156 a0001c0001t0004g0165 a0001c0001t0004g0187 a0001c0001t0004g0201 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0068 a0001c0001t0005g0072 a0001c0001t0005g0074 a0001c0001t0005g0075 a0001c0001t0005g0076 a0001c0001t0005g0078 a0001c0001t0005g0081 a0001c0001t0005g0082 a0001c0001t0005g0083 a0001c0001t0005g0084 a0001c0001t0005g0085 a0001c0001t0006g0004 a0001c0001t0006g0010 a0001c0001t0006g0011 a0001c0001t0006g0016 a0001c0001t0006g0017 a0001c0001t0006g0018 a0001c0001t0006g0021 a0001c0001t0006g0022 a0001c0001t0006g0025 a0001c0001t0006g0027 a0001c0001t0006g0029 a0001c0001t0006g0032 a0001c0001t0007g0044 a0001c0001t0007g0046 a0001c0001t0007g0050 a0001c0001t0007g0052 a0001c0001t0007g0055 a0001c0001t0007g0061 a0001c0001t0009g0005 a0001c0001t0009g0012 a0001c0001t0009g0013 a0001c0001t0009g0014 a0001c0001t0009g0023 a0001c0001t0009g0024 a0001c0001t0011g0042 a0001c0001t0011g0047 a0001c0001t0011g0053 a0001c0001t0011g0059 a0001c0001t0012g0066 a0001c0001t0012g0069 a0001c0001t0012g0070 a0001c0001t0012g0071 a0001c0001t0014g0033 a0001c0001t0014g0034 a0001c0001t0014g0035 a0001c0001t0015g0038 a0001c0001t0015g0039 a0001c0001t0015g0058 a0001c0001t0016g0077 a0001c0001t0016g0087 a0001c0001t0017g0115 a0001c0001t0017g0131 a0001c0001t0017g0166 a0001c0001t0019g0036 a0001c0001t0019g0037 a0001c0001t0020g0057 a0001c0001t0020g0060 a0001c0001t0021g0049 a0001c0001t0021g0056 a0001c0001t0022g0080 a0001c0001t0023g0001 a0001c0001t0024g0002 a0001c0001t0025g0003 a0001c0001t0028g0019 a0001c0001t0029g0043 a0001c0001t0030g0045 a0001c0001t0031g0054 a0001c0001t0032g0079 a0001c0001t0033g0067 a0001c0001t0034g0063 a0001c0001t0035g0197 a0001c0001t0040g0200 a0001c0001t0041g0204 a0001c0001t0043g0205 a0001c0002t0001g0088 a0001c0002t0001g0097 a0001c0002t0001g0100 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0110 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0134 a0001c0002t0001g0136 a0001c0002t0001g0149 a0001c0002t0001g0164 a0001c0002t0001g0167 a0001c0002t0008g0006 a0001c0002t0008g0009 a0001c0002t0008g0020 a0001c0002t0008g0030 a0001c0002t0008g0031 a0001c0002t0010g0041 a0001c0002t0010g0048 a0001c0002t0010g0051 a0001c0002t0010g0062 a0001c0002t0013g0089 a0001c0002t0013g0090 a0001c0002t0013g0092 a0001c0002t0018g0015 a0001c0002t0018g0026 a0001c0002t0026g0007 a0001c0002t0027g0028 a0001c0002t0038g0127 a0001c0002t0042g0206 a0001c0003t0001g0114 a0001c0003t0037g0124	146	206	0.7087	11	c.-33 others(32): Show c.-339+53539_-339+53540insAGATAATCACT	HS3ST5	ENSG00000249853.9	transcript	ENST00000312719.10	protein_coding	1/4			chr6	TogoVar
HS6ST1_chr2_128260480_128323868	128284505	T T	TTTTTTTT others(4): Show TTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03471.hp2 HG02257.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0089 a0001c0002t0092 a0001c0001t0089 a0001c0002t0092	a0001c0001t0089g0277 a0001c0002t0092g0224 a0001c0001t0089g0277 a0001c0002t0092g0224	2	294	0.0068	11	c.528 others(30): Show c.528-15636_528-15635insGAAAAAAAAAA	HS6ST1	ENSG00000136720.7	transcript	ENST00000259241.7	protein_coding	1/1			chr2	TogoVar
HS6ST1_chr2_128260480_128323868	128284506	T T	TTTTTTTT others(4): Show TTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG03710.hp1 HG01070.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0027 a0001c0001t0003 a0001c0001t0027	a0001c0001t0003g0069 a0001c0001t0027g0110 a0001c0001t0003g0069 a0001c0001t0027g0110	2	294	0.0068	11	c.528 others(30): Show c.528-15637_528-15636insGAAAAAAAAAA	HS6ST1	ENSG00000136720.7	transcript	ENST00000259241.7	protein_coding	1/1			chr2	TogoVar
HS6ST2_chrX_132621015_132963629	132709812	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	201	0.0050	11	c.948 others(28): Show c.948-1319_948-1318insGTGTGTGTGTG	HS6ST2	ENSG00000171004.19	transcript	ENST00000370833.7	protein_coding	2/4			chrX	TogoVar
HS6ST3_chr13_96085107_96844562	96351335	T T	TTTTTTTT others(4): Show TTTTTTTTTAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA18979.hp1 HG02970.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0114 a0001c0001t0004g0093 a0001c0001t0001g0114 a0001c0001t0004g0093	2	116	0.0172	11	c.707 others(32): Show c.707+259766_707+259767insTTTTTTTTAAA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1			chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96658268	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG02055.hp1 others(5): Show HG00558.hp1 HG00558.hp2 HG02055.hp1 HG02132.hp2 HG02647.hp2 HG03098.hp2 NA18950.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0025	a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0002g0096 others(5): Show a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0002g0096 a0001c0001t0004g0016 a0001c0001t0007g0012 a0001c0001t0008g0015 a0001c0001t0010g0055 a0001c0001t0025g0008	8	116	0.0690	11	c.708 others(32): Show c.708-174202_708-174192dupTTTTTTTTTTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96658296	T T	TTTTTTTT others(4): Show TTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01361.hp1 HG01071.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0067 a0001c0001t0001g0005 a0001c0001t0001g0067	2	116	0.0172	11	c.708 others(32): Show c.708-174192_708-174191insTTTTTTTTCTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96831954	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA19007.hp1 HG00639.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0111 a0001c0001t0003g0057 a0001c0001t0003g0111	2	116	0.0172	11	c.708 others(26): Show c.708-520_708-510dupAAAAAAAAAAA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HSCB_chr22_28737039_28762510	28750247	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	410	0.0024	11	c.569 others(26): Show c.569-975_569-965dupAAAAAAAAAAA	HSCB	ENSG00000100209.11	transcript	ENST00000216027.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
HSCB_chr22_28737039_28762510	28750945	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 NA18941.hp1 NA18959.hp2 others(6): Show HG01943.hp2 NA18941.hp1 NA18959.hp2 NA18973.hp2 NA18990.hp1 NA18990.hp2 NA19002.hp1 NA19079.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0193 others(1): Show a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0193 a0001c0001t0001g0210	9	410	0.0220	11	c.569 others(26): Show c.569-282_569-272dupTTTTTTTTTTT	HSCB	ENSG00000100209.11	transcript	ENST00000216027.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
HSD11B1_chr1_209699846_209739929	209719019	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00438.hp1 others(56): Show HG00099.hp1 HG00323.hp2 HG00438.hp1 HG00642.hp1 HG01071.hp1 HG01256.hp1 HG01258.hp1 HG01496.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01981.hp2 HG02074.hp1 HG02083.hp2 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02273.hp1 HG02723.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG04204.hp1 NA18906.hp2 NA18940.hp2 NA18944.hp1 NA18947.hp1 NA18953.hp2 NA18954.hp2 NA18980.hp1 NA18984.hp1 NA18991.hp1 NA18992.hp2 NA18994.hp2 NA19001.hp2 NA19002.hp2 NA19058.hp1 NA19064.hp2 NA19066.hp2 NA19085.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0043 others(29): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0043 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0187 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0268 a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0026 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0062 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0107 a0001c0001t0002g0111 a0001c0001t0002g0240 a0001c0001t0003g0015 a0001c0001t0003g0277	59	400	0.1475	11	c.517 others(30): Show c.517+11898_517+11908dupAAAAAAAAAAA	HSD11B1	ENSG00000117594.10	transcript	ENST00000367027.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
HSD17B11_chr4_87331515_87396188	87334500	T T	TCTTCTTC others(4): Show TCTTCTTCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01192.hp2 HG01884.hp1 others(34): Show HG00639.hp2 HG01192.hp2 HG01884.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 others(10): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0008 a0001c0003t0013 a0001c0006t0004 a0001c0006t0005	a0001c0001t0005g0154 a0001c0001t0005g0155 a0001c0001t0005g0156 others(34): Show a0001c0001t0005g0154 a0001c0001t0005g0155 a0001c0001t0005g0156 a0001c0001t0005g0157 a0001c0001t0005g0158 a0001c0001t0005g0159 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0005g0163 a0001c0001t0005g0164 a0001c0001t0007g0119 a0001c0001t0007g0134 a0001c0001t0007g0135 a0001c0001t0007g0136 a0001c0001t0007g0137 a0001c0001t0007g0138 a0001c0001t0009g0343 a0001c0001t0009g0346 a0001c0001t0009g0363 a0001c0002t0005g0153 a0001c0002t0008g0288 a0001c0002t0009g0356 a0001c0003t0002g0028 a0001c0003t0003g0131 a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0003t0004g0344 a0001c0003t0004g0364 a0001c0003t0004g0365 a0001c0003t0008g0291 a0001c0003t0008g0292 a0001c0003t0008g0293 a0001c0003t0008g0294 a0001c0003t0008g0295 a0001c0003t0013g0009 a0001c0006t0004g0368 a0001c0006t0005g0160	37	390	0.0949	11	c.27 others(22): Show c.2775_*2776insGGAAGAAGAAG	HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding		2014		chr4	TogoVar
HSD17B11_chr4_87331515_87396188	87335918	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0291 a0001c0003t0008g0293 a0001c0003t0008g0291 a0001c0003t0008g0293	2	390	0.0051	11	c.13 others(22): Show c.1357_*1358insAAAAAAAAAAA	HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding		596		chr4	TogoVar
HSD17B11_chr4_87331515_87396188	87357949	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01515.hp2 HG01517.hp2 HG00733.hp1 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0264 a0001c0002t0001g0006 a0001c0002t0001g0264	3	390	0.0077	11	c.558 others(26): Show c.558-544_558-534dupAAAAAAAAAAA	HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	4/6			chr4	TogoVar
HSD17B11_chr4_87331515_87396188	87370755	A A	ATTATTTT others(4): Show ATTATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	390	0.0026	11	c.557 others(28): Show c.557+1953_557+1954insAAAAAAAATAA	HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	4/6			chr4	TogoVar
HSD17B11_chr4_87331515_87396188	87380863	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	390	0.0026	11	c.318 others(28): Show c.318+1381_318+1391dupTTTTTTTTTTT	HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6			chr4	TogoVar
HSD17B12_chr11_43675738_43861615	43690396	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0012 a0005c0006t0012	a0005c0006t0012g0020 a0005c0006t0012g0020	1	280	0.0036	11	c.160 others(28): Show c.160+9410_160+9411insTTTTTTTTTTT	HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
HSD17B12_chr11_43675738_43861615	43690398	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	280	0.0036	11	c.160 others(28): Show c.160+9412_160+9413insTTTTTTTTTTT	HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
HSD17B12_chr11_43675738_43861615	43690400	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	280	0.0036	11	c.160 others(28): Show c.160+9414_160+9415insTTTTTTTTTTT	HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
HSD17B12_chr11_43675738_43861615	43724260	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0039 a0002c0002t0002g0039	1	280	0.0036	11	c.161 others(30): Show c.161-26651_161-26650insGTGTGTGTGTG	HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	1/10			chr11	TogoVar
HSD17B12_chr11_43675738_43861615	43757639	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0207 a0001c0001t0003g0207	1	280	0.0036	11	c.283 others(28): Show c.283+3536_283+3546dupAAAAAAAAAAA	HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
HSD17B12_chr11_43675738_43861615	43847715	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp2 HG01071.hp1 others(6): Show HG00642.hp2 HG01070.hp2 HG01071.hp1 HG02004.hp1 HG02965.hp2 HG03239.hp2 HG03654.hp2 HG03942.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0001 a0001c0003t0003 a0001c0001t0003 a0001c0003t0001 a0001c0003t0003	a0001c0001t0003g0279 a0001c0003t0001g0274 a0001c0003t0003g0245 others(6): Show a0001c0001t0003g0279 a0001c0003t0001g0274 a0001c0003t0003g0245 a0001c0003t0003g0246 a0001c0003t0003g0247 a0001c0003t0003g0248 a0001c0003t0003g0249 a0001c0003t0003g0250 a0001c0003t0003g0251	9	280	0.0321	11	c.685 others(28): Show c.685-6992_685-6982dupAAAAAAAAAAA	HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
HSD17B12_chr11_43675738_43861615	43860688	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01168.hp1 others(15): Show HG01070.hp2 HG01071.hp1 HG01168.hp1 HG01884.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02559.hp2 HG02723.hp2 HG03130.hp2 HG03139.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 NA19068.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0003 a0002c0002t0002 a0001c0001t0001 a0001c0003t0003 a0002c0002t0002	a0001c0001t0001g0009 a0001c0001t0001g0025 a0001c0001t0001g0030 others(15): Show a0001c0001t0001g0009 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0203 a0001c0003t0003g0250 a0001c0003t0003g0251 a0002c0002t0002g0003 a0002c0002t0002g0115 a0002c0002t0002g0118 a0002c0002t0002g0155 a0002c0002t0002g0160 a0002c0002t0002g0171 a0002c0002t0002g0263 a0002c0002t0002g0276	18	280	0.0643	11	c.54 others(22): Show c.5440_*5441insTTTTTTTTTTT	HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding		4074		chr11	TogoVar
HSD17B13_chr4_87298794_87327882	87317563	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG00621.hp2 others(58): Show HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00741.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01255.hp1 HG01346.hp1 HG01952.hp2 HG02056.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02572.hp1 HG02602.hp2 HG02630.hp1 HG02723.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03704.hp2 HG03834.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18943.hp2 NA18949.hp1 NA18957.hp1 NA18962.hp1 NA18964.hp1 NA18968.hp2 NA18979.hp2 NA18980.hp2 NA18990.hp1 NA18991.hp2 NA18993.hp1 NA19054.hp1 NA19055.hp2 NA19057.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19081.hp1 NA19082.hp1 NA19086.hp2 NA19091.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0003t0006	a0001c0001t0002g0005 a0001c0001t0002g0032 a0001c0001t0002g0033 others(49): Show a0001c0001t0002g0005 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0159 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0317 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0334 a0001c0001t0003g0245 a0001c0001t0003g0339 a0001c0001t0004g0010 a0001c0001t0004g0028 a0001c0001t0004g0031 a0001c0001t0004g0238 a0001c0001t0004g0246 a0001c0001t0004g0274 a0001c0001t0004g0279 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0283 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0004g0323 a0001c0001t0004g0341 a0001c0001t0010g0259 a0001c0001t0010g0320 a0001c0001t0011g0066 a0001c0001t0015g0278 a0001c0003t0006g0381 a0001c0003t0006g0382	61	442	0.1380	11	c.319 others(26): Show c.319-351_319-341dupAAAAAAAAAAA	HSD17B13	ENSG00000170509.12	transcript	ENST00000328546.5	protein_coding	2/6			chr4	TogoVar
HSD17B13_chr4_87298794_87327882	87317566	T T	TTTTTTTT others(4): Show TTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG03579.hp2 others(1): Show HG01891.hp1 HG02280.hp2 HG03579.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0220 a0001c0001t0005g0025 a0001c0001t0005g0165 a0001c0001t0002g0220 a0001c0001t0005g0025 a0001c0001t0005g0165	4	442	0.0091	11	c.319 others(26): Show c.319-344_319-343insGAAAAAAAAAA	HSD17B13	ENSG00000170509.12	transcript	ENST00000328546.5	protein_coding	2/6			chr4	TogoVar
HSD17B14_chr19_48808018_48841491	48816779	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0013 a0002c0002t0002g0013	1	394	0.0025	11	c.370 others(28): Show c.370-1639_370-1638insGAAAGAAAGAA	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48826525	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03516.hp1 NA20300.hp1 HG01891.hp1 HG03516.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0018 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0018 a0002c0002t0002g0021 a0002c0002t0002g0022	3	394	0.0076	11	c.369 others(28): Show c.369+5142_369+5143insTTTTTTTTTTT	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSD17B1_chr17_42547923_42560214	42552476	C C	CCAACATG others(4): Show CCAACATGACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	422	0.0024	11	c.-45 others(20): Show c.-458_-457insCAACATGACAA	HSD17B1	ENSG00000108786.11	transcript	ENST00000585807.6	protein_coding		446		chr17	TogoVar
HSD17B2_chr16_82030253_82103534	82034365	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02818.hp2 HG02895.hp1 others(3): Show HG02622.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0174 a0001c0001t0001g0175 others(3): Show a0001c0001t0001g0030 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0200	6	366	0.0164	11	c.-10 others(22): Show c.-1060_-1059insTTTTTTTTTTT	HSD17B2	ENSG00000086696.11	transcript	ENST00000199936.9	protein_coding		887		chr16	TogoVar
HSD17B2_chr16_82030253_82103534	82100836	A A	AAGAGAGC others(4): Show AAGAGAGCTGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	366	0.0027	11	c.24 others(22): Show c.2400_*2401insAGAGAGCTGAC	HSD17B2	ENSG00000086696.11	transcript	ENST00000199936.9	protein_coding		2303		chr16	TogoVar
HSD17B3_chr9_96230306_96307176	96241974	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0250 a0002c0002t0003g0250	1	374	0.0027	11	c.673 others(28): Show c.673-1078_673-1068dupCTTTCTTTCTT	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	9/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96255367	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00733.hp1 HG03831.hp1 others(1): Show HG00438.hp1 HG00733.hp1 HG03831.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0022 a0001c0001t0001g0078 a0001c0001t0001g0209 others(1): Show a0001c0001t0001g0022 a0001c0001t0001g0078 a0001c0001t0001g0209 a0001c0001t0002g0299	4	374	0.0107	11	c.202 others(26): Show c.202-435_202-425dupAAAAAAAAAAA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96266532	A A	AGTGCTGA others(4): Show AGTGCTGAGATT	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	374	0.0027	11	c.202 others(30): Show c.202-11600_202-11590dupAATCTCAGCAC	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar

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