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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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
SKI_chr1_2223319_2315213	2281782	A A	AGACATGC others(36): Show AGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	330	0.0030	43	c.970 others(62): Show c.970-21192_970-21191insTGCGGCGGCGGCGATCTTCAGAGAGC GGACGCCCGAGAGGACA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281812	A A	AGGACGCC others(36): Show AGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGC	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0083 a0001c0001t0081g0083	1	330	0.0030	43	c.970 others(62): Show c.970-21159_970-21158insTGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGCGGACGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281816	C C	CGCCCGAG others(36): Show CGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0108 a0001c0001t0007g0108	1	330	0.0030	43	c.970 others(62): Show c.970-21154_970-21153insAGACAGGCGGCGGCGGCGATCTTCAG AGAGAGGATGCCCGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281964	T T	TGGCGGAG others(36): Show TGGCGGAGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0085 a0001c0001t0010g0085	1	330	0.0030	43	c.970 others(62): Show c.970-20995_970-20994insCGGACGCCCGAGAGGACAGGCGGCGG CGGAGATCTTCAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282078	C C	CGAGAAGA others(36): Show CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0028 a0001c0001t0018g0028	1	330	0.0030	43	c.970 others(62): Show c.970-20864_970-20863insGACGCCTGAGAAGACAGGCGGTGGCG GAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282083	A A	AGACAGGC others(36): Show AGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19063.hp2 HG02630.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0007 a0001c0001t0003 a0001c0003t0007	a0001c0001t0003g0046 a0001c0003t0007g0171 a0001c0001t0003g0046 a0001c0003t0007g0171	2	330	0.0061	43	c.970 others(62): Show c.970-20886_970-20885insCGGCGGCGATCTTCAGAGAGCGGACG CCCGAGAGGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282115	A A	AGATGCCC others(36): Show AGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	330	0.0030	43	c.970 others(62): Show c.970-20860_970-20818dupTGCCCGAGAAGACAGGCGGTGGCGGA GATCTTCAGAGAGAGGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282118	T T	TGCCCGAG others(36): Show TGCCCGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGAC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0200 a0001c0001t0072g0200	1	330	0.0030	43	c.970 others(62): Show c.970-20842_970-20841insCGGCGGAGATCTTCAGAGAGAGGACG CCCGAGAAGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282118	T T	TGCCCGAG others(36): Show TGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19067.hp2 NA19007.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0290 a0001c0001t0003g0291	2	330	0.0061	43	c.970 others(62): Show c.970-20813_970-20771dupCGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGGACGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282161	C C	CGCCCGAG others(36): Show CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0079 a0001c0001t0013g0079	1	330	0.0030	43	c.970 others(62): Show c.970-20775_970-20774insTGCCCGAGAAGACAGGCGGTGGCGGA GATCTTCAGAGAGAGGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282165	C C	CGAGAAGA others(36): Show CGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAAGACACGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0051 a0001c0001t0014g0051	1	330	0.0030	43	c.970 others(62): Show c.970-20802_970-20801insTGGTGGCGGAGATCTTCAGAGAGAAG ACACGTGAGAAGACAGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282170	A A	AGACAGGC others(36): Show AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0070 a0001c0001t0014g0070	1	330	0.0030	43	c.970 others(62): Show c.970-20775_970-20774insTGCCCGAGAGGACAGGCGGTGGCGGA GATCTTCAGAGAGAGGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282294	T T	TGAGAAGA others(36): Show TGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	330	0.0030	43	c.970 others(62): Show c.970-20602_970-20560dupCGCCCGAGAAGACAGGCGGTGGCGGA GATCTTCAGAGAGAGGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282312	C C	CGGAGATC others(36): Show CGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0108 a0001c0001t0007g0108	1	330	0.0030	43	c.970 others(62): Show c.970-20646_970-20645insTGCCCGAGAAGACAGGCGGTGGTGGA GATCTTCAGAGAGAGGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282333	C C	TGCCCGAG others(36): Show TGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0187 a0002c0004t0001g0187	1	330	0.0030	43	c.970 others(62): Show c.970-20646_970-20645insTGCCCGAGAAGACAGGCGGTGGCGGA GATCTTCAGAGAGAGGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2282337	C C	CGAGAAGA others(36): Show CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0068 a0001c0001t0017g0068	1	330	0.0030	43	c.970 others(62): Show c.970-20599_970-20598insTGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGGACGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282401	A A	AGATCTTC others(36): Show AGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGCGGCGGT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0232 a0001c0001t0005g0232	1	330	0.0030	43	c.970 others(62): Show c.970-20560_970-20559insCGCCTGAGAAGACAGGCGGCGGCGGT GATCTTCAGAGAGAGGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282462	C C	CGCCCGAG others(36): Show CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0040 a0001c0006t0040	a0001c0006t0040g0053 a0001c0006t0040g0053	1	330	0.0030	43	c.970 others(62): Show c.970-20513_970-20512insCGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGGATGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282466	T T	TGAGAAGA others(36): Show TGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0261 a0001c0001t0035g0261	1	330	0.0030	43	c.970 others(62): Show c.970-20498_970-20497insCGGCGGAGATCTTCAGAGAGAGGATG CCCGAGAAGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282466	T T	TGAGAAGA others(36): Show TGAGAAGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18971.hp1 NA18979.hp1 NA18612.hp2 NA18971.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0038 a0001c0001t0008g0041 a0001c0001t0008g0042 a0001c0001t0002g0038 a0001c0001t0008g0041 a0001c0001t0008g0042	3	330	0.0091	43	c.970 others(62): Show c.970-20470_970-20469insCGAGAAGACAGGCGGTGGTGGAGATC TTCAGAGAGAGGACGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2289542	T T	TGGGGGTG others(36): Show TGGGGGTGCAGGGCAGGGCAGGAGAACCAAGATCGTGGGGGTGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp2 HG00621.hp2 others(81): Show HG00099.hp1 HG00609.hp2 HG00621.hp2 HG00733.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01517.hp1 HG01928.hp2 HG01952.hp2 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02109.hp1 HG02155.hp1 HG02165.hp1 HG02273.hp1 HG02559.hp1 HG02735.hp2 HG02896.hp2 HG03017.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03669.hp2 HG03688.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp2 NA18942.hp1 NA18946.hp1 NA18948.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18984.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18995.hp2 NA18998.hp1 NA19000.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19057.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19090.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0025 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0058 a0001c0001t0071 a0001c0001t0077 a0001c0001t0080 a0001c0001t0082 a0001c0007t0078 a0002c0002t0002	a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0125 others(80): Show a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0165 a0001c0001t0001g0235 a0001c0001t0001g0240 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0049 a0001c0001t0002g0109 a0001c0001t0002g0301 a0001c0001t0003g0022 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0039 a0001c0001t0003g0044 a0001c0001t0003g0063 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0127 a0001c0001t0003g0158 a0001c0001t0003g0163 a0001c0001t0003g0197 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0217 a0001c0001t0003g0237 a0001c0001t0003g0241 a0001c0001t0003g0243 a0001c0001t0003g0270 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0280 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0004g0009 a0001c0001t0004g0013 a0001c0001t0004g0017 a0001c0001t0004g0025 a0001c0001t0004g0034 a0001c0001t0004g0037 a0001c0001t0004g0040 a0001c0001t0004g0090 a0001c0001t0004g0114 a0001c0001t0004g0134 a0001c0001t0004g0151 a0001c0001t0004g0218 a0001c0001t0004g0220 a0001c0001t0004g0230 a0001c0001t0004g0248 a0001c0001t0004g0275 a0001c0001t0005g0153 a0001c0001t0005g0253 a0001c0001t0006g0131 a0001c0001t0006g0142 a0001c0001t0006g0150 a0001c0001t0007g0133 a0001c0001t0008g0041 a0001c0001t0008g0279 a0001c0001t0009g0296 a0001c0001t0012g0155 a0001c0001t0013g0079 a0001c0001t0014g0070 a0001c0001t0014g0144 a0001c0001t0014g0229 a0001c0001t0017g0068 a0001c0001t0017g0272 a0001c0001t0018g0028 a0001c0001t0025g0122 a0001c0001t0025g0238 a0001c0001t0051g0276 a0001c0001t0052g0007 a0001c0001t0054g0159 a0001c0001t0058g0297 a0001c0001t0071g0024 a0001c0001t0077g0011 a0001c0001t0080g0043 a0001c0001t0082g0156 a0001c0007t0078g0269 a0002c0002t0002g0002	84	330	0.2546	43	c.970 others(62): Show c.970-13389_970-13347dupGGTGCAGGGCAGGGCAGGAGAACCAA GATCGTGGGGGTGGGGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2289542	T T	TGGGGGTG others(36): Show TGGGGGTGCAGGGCAGGGCAGGAGAACCAAGATCTTGGGGGTGG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0300 a0001c0001t0006g0300	1	330	0.0030	43	c.970 others(62): Show c.970-13403_970-13402insTTGGGGGTGGGGGGGTGCAGGGCAGG GCAGGAGAACCAAGATC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2289544	G G	GGGGTGCA others(36): Show GGGGTGCAGGGCAGGGCAGGAGAACCAAGATCGTGGGGGTGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(30): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00544.hp1 HG00733.hp1 HG00738.hp1 HG01070.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01515.hp1 HG01884.hp1 HG02015.hp2 HG02074.hp1 HG02486.hp2 HG02572.hp1 HG02897.hp1 HG03017.hp2 HG03098.hp2 HG03490.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp2 NA18983.hp2 NA19011.hp2 NA19066.hp2 NA19074.hp2 NA19088.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0008 a0001c0014 others(3): Show a0001c0001 a0001c0008 a0001c0014 a0002c0004 a0002c0015 a0003c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(17): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0021 a0001c0001t0024 a0001c0001t0027 a0001c0001t0031 a0001c0001t0033 a0001c0001t0057 a0001c0001t0059 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0088 a0001c0008t0021 a0001c0014t0001 a0002c0004t0002 a0002c0015t0002 a0003c0013t0032	a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0076 others(30): Show a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0123 a0001c0001t0002g0154 a0001c0001t0002g0247 a0001c0001t0002g0256 a0001c0001t0002g0277 a0001c0001t0003g0224 a0001c0001t0010g0092 a0001c0001t0010g0164 a0001c0001t0021g0250 a0001c0001t0024g0005 a0001c0001t0027g0245 a0001c0001t0031g0321 a0001c0001t0033g0073 a0001c0001t0057g0288 a0001c0001t0059g0244 a0001c0001t0083g0231 a0001c0001t0084g0112 a0001c0001t0085g0263 a0001c0001t0086g0286 a0001c0001t0088g0120 a0001c0008t0021g0252 a0001c0014t0001g0174 a0002c0004t0002g0186 a0002c0015t0002g0185 a0003c0013t0032g0178	33	330	0.1000	43	c.970 others(62): Show c.970-13392_970-13391insAGGGTGCAGGGCAGGGCAGGAGAACC AAGATCGTGGGGGTGGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2289589	G G	GGTGCAGG others(36): Show GGTGCAGGGCAGGGCAGGAGAACCAAGATCGTGGGGGTGGGGGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00544.hp2 others(24): Show HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00673.hp1 HG01169.hp2 HG01346.hp1 HG01981.hp2 HG02074.hp2 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG03704.hp1 HG03927.hp1 HG03942.hp2 NA18945.hp2 NA18950.hp1 NA18959.hp1 NA18962.hp2 NA18971.hp1 NA18991.hp1 NA18998.hp2 NA19043.hp1 NA19084.hp1 NA19084.hp2 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0015 a0001c0001t0023 a0001c0001t0030 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0072 a0001c0001t0074 a0001c0009t0004	a0001c0001t0002g0203 a0001c0001t0003g0191 a0001c0001t0003g0204 others(24): Show a0001c0001t0002g0203 a0001c0001t0003g0191 a0001c0001t0003g0204 a0001c0001t0004g0260 a0001c0001t0006g0065 a0001c0001t0006g0080 a0001c0001t0006g0211 a0001c0001t0006g0226 a0001c0001t0006g0284 a0001c0001t0006g0324 a0001c0001t0008g0042 a0001c0001t0008g0107 a0001c0001t0008g0111 a0001c0001t0008g0193 a0001c0001t0008g0196 a0001c0001t0008g0202 a0001c0001t0008g0210 a0001c0001t0008g0239 a0001c0001t0015g0201 a0001c0001t0023g0139 a0001c0001t0030g0054 a0001c0001t0064g0311 a0001c0001t0065g0312 a0001c0001t0066g0282 a0001c0001t0072g0200 a0001c0001t0074g0192 a0001c0009t0004g0064	27	330	0.0818	43	c.970 others(62): Show c.970-13347_970-13346insAGTGCAGGGCAGGGCAGGAGAACCAA GATCGTGGGGGTGGGGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2289589	G G	GGTGCAGG others(36): Show GGTGCAGGGCAGGGCAGGAGAACCAAGATCGTGGGGGTTGGGGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0310 a0001c0001t0006g0310	1	330	0.0030	43	c.970 others(62): Show c.970-13352_970-13351insTGGGGAGTGCAGGGCAGGGCAGGAGA ACCAAGATCGTGGGGGT	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC10A6_chr4_86818468_86854384	86842875	T T	TTTCTTTC others(36): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	350	0.0029	43	c.377 others(60): Show c.377+5863_377+5864insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAA	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC10A6_chr4_86818468_86854384	86842876	T T	TTCTTTCT others(36): Show TTCTTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	350	0.0029	43	c.377 others(60): Show c.377+5862_377+5863insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GGAAAGAAAGAAAGA	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC12A6_chr15_34224784_34342781	34310791	T T	TGTGTGTC others(36): Show TGTGTGTCCCCGTGTCCAGGCTGGTGTTGAACTCCTGGGCTCAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0247 a0001c0002t0002g0247	1	274	0.0037	43	c.271 others(62): Show c.271+25618_271+25619insTTGAGCCCAGGAGTTCAACACCAGCC TGGACACGGGGACACAC	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC12A7_chr5_1045384_1117063	1069975	C C	CGGCATCA others(36): Show CGGCATCACACTTAACGCAGCCCCCAGTGAGCCCCCAGCACACG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0004 a0001c0017t0004	a0001c0017t0004g0020 a0001c0017t0004g0020	1	118	0.0085	43	c.224 others(62): Show c.2241+3615_2241+3657dupCGTGTGCTGGGGGCTCACTGGGGGCT GCGTTAAGTGTGATGCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070125	T T	TAACGCAG others(36): Show TAACGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0019 a0001c0003t0003g0019	1	118	0.0085	43	c.224 others(62): Show c.2241+3507_2241+3508insTAAGTGTGATGCCGTGTGCTGGGGGC TCACTGGGGGCTGCGTT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070309	G G	GCCCCCAG others(36): Show GCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0045 a0002c0002t0002g0045	1	118	0.0085	43	c.224 others(62): Show c.2241+3323_2241+3324insGCTGCATAAGTGTGATGCCCGTGTGC TGGGGGCTCACTGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070391	G G	GCCCCAGT others(36): Show GCCCCAGTGAGCCCCCAGCACACGGGTATCACACTTAACGCAGC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0012 a0001c0007t0012	a0001c0007t0012g0001 a0001c0007t0012g0001	1	118	0.0085	43	c.224 others(62): Show c.2241+3241_2241+3242insGCTGCGTTAAGTGTGATACCCGTGTG CTGGGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070473	G G	GCCCCCAG others(36): Show GCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0111 a0001c0032t0001g0111	1	118	0.0085	43	c.224 others(62): Show c.2241+3159_2241+3160insGCTGCATAAGTGTGATGCCCGTGTGC TGGGGGCTCACTGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070690	G G	GCCCCCAG others(36): Show GCCCCCAGTGAGCCCCCAGCACACGGGTATCACACTTATGCAGC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0090 a0001c0001t0007g0090	1	118	0.0085	43	c.224 others(62): Show c.2241+2942_2241+2943insGCTGCATAAGTGTGATACCCGTGTGC TGGGGGCTCACTGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070806	C C	CGGGCATC others(36): Show CGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0058 a0001c0014t0003g0058	1	118	0.0085	43	c.224 others(62): Show c.2241+2826_2241+2827insCGTGTGCTGGGGGCTCACTGGGGGCT GCATAAGTGTGATGCCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070987	T T	TGCAGCCC others(36): Show TGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAAC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0010 a0002c0016t0010	a0002c0016t0010g0082 a0002c0016t0010g0082	1	118	0.0085	43	c.224 others(62): Show c.2241+2645_2241+2646insGTTAAGTGTGATGCCCGTGTGCTGGG GGCTCACTGGGGGCTGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071136	C C	CGGCATCA others(36): Show CGGCATCACACTTAACGCAGCCCCCAGTGAGCCCCCAGCACACG	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0098 a0002c0002t0002g0098	1	118	0.0085	43	c.224 others(62): Show c.2241+2496_2241+2497insCGTGTGCTGGGGGCTCACTGGGGGCT GCGTTAAGTGTGATGCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071453	G G	GCCCCAGT others(36): Show GCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAACGCAGC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0063 a0002c0008t0002g0063	1	118	0.0085	43	c.224 others(62): Show c.2241+2179_2241+2180insGCTGCGTTAAGTGTGATGCCCGTGTG CTGGGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071517	C C	CGGGCATC others(36): Show CGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0089 a0001c0020t0001g0089	1	118	0.0085	43	c.224 others(62): Show c.2241+2115_2241+2116insCGTGTGCTGGGGGCTCACTGGGGGCT GCATAAGTGTGATGCCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071783	G G	GCCCCCAG others(36): Show GCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0111 a0001c0032t0001g0111	1	118	0.0085	43	c.224 others(62): Show c.2241+1849_2241+1850insGCTGCATAAGTGTGATGCCCGTGTGC TGGGGGCTCACTGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071861	T T	TGCAGCCC others(36): Show TGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0057 a0002c0016t0001g0057	1	118	0.0085	43	c.224 others(62): Show c.2241+1771_2241+1772insGTTAAGTGTGATGCCCGTGTGCTGGG GGCTCACTGGGGGCTGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072160	C C	CGGCATCA others(36): Show CGGCATCACACTTAACGCAGCCCCCAGTGAGCCCCCAGCACACG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0004 a0001c0003t0003g0004	1	118	0.0085	43	c.224 others(62): Show c.2241+1472_2241+1473insCGTGTGCTGGGGGCTCACTGGGGGCT GCGTTAAGTGTGATGCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072273	G G	GCCCCCAG others(36): Show GCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTAACGCAGC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0045 a0002c0002t0002g0045	1	118	0.0085	43	c.224 others(62): Show c.2241+1359_2241+1360insGCTGCGTTAAGTGTGATGCCGTGTGC TGGGGGCTCACTGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072404	T T	TGCAGCCC others(36): Show TGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAAC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0083 a0002c0002t0002g0083	1	118	0.0085	43	c.224 others(62): Show c.2241+1228_2241+1229insGTTAAGTGTGATGCCCGTGTGCTGGG GGCTCACTGGGGGCTGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072578	C C	CGGGCATC others(36): Show CGGGCATCACACTTATGCAGCCCCCAGTGAGCCGCCAGCACACG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0010 a0002c0016t0010	a0002c0016t0010g0082 a0002c0016t0010g0082	1	118	0.0085	43	c.224 others(62): Show c.2241+1054_2241+1055insCGTGTGCTGGCGGCTCACTGGGGGCT GCATAAGTGTGATGCCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC16A2_chrX_74416493_74538916	74439161	T T	TTTCTTTC others(36): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG03491.hp2 HG03492.hp1 others(2): Show HG02165.hp2 HG03491.hp2 HG03492.hp1 HG04184.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0023 a0001c0001t0001g0203 a0001c0001t0001g0204 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0203 a0001c0001t0001g0204 a0002c0002t0001g0033 a0002c0002t0002g0034	5	235	0.0213	43	c.430 others(62): Show c.430+17120_430+17121insCTTTCTTTCTTTCTTTCTTCTTTCTT TCTTTCTTTCTTTCTTT	SLC16A2	ENSG00000147100.11	transcript	ENST00000587091.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC16A2_chrX_74416493_74538916	74439165	T T	TTTCTTTC others(36): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0075	1	235	0.0043	43	c.430 others(62): Show c.430+17120_430+17121insCTTTCTTTCTTTCTTTCTTTCTTCTT TCTTTCTTTCTTTCTTT	SLC16A2	ENSG00000147100.11	transcript	ENST00000587091.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC16A2_chrX_74416493_74538916	74439169	T T	TTTCTTTC others(36): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03491.hp1 HG02630.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0096 a0001c0001t0003g0115 a0001c0001t0001g0096 a0001c0001t0003g0115	2	235	0.0085	43	c.430 others(62): Show c.430+17120_430+17121insCTTTCTTTCTTTCTTTCTTTCTTTCT TCTTTCTTTCTTTCTTT	SLC16A2	ENSG00000147100.11	transcript	ENST00000587091.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC16A3_chr17_82224042_82245086	82224341	G G	GACACACC others(36): Show GACACACCCCTACACCTTGCAGTCACCTGTGCAGACACACCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00733.hp2 HG01106.hp1 others(18): Show HG00639.hp1 HG00733.hp2 HG01106.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01978.hp1 HG02135.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02965.hp2 HG03195.hp2 HG03453.hp2 HG03688.hp1 HG03942.hp1 HG04184.hp1 NA20129.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0001c0001t0004 a0003c0004t0016 a0001c0001t0002 a0001c0001t0004 a0003c0004t0016	a0001c0001t0002g0026 a0001c0001t0002g0053 a0001c0001t0002g0256 others(16): Show a0001c0001t0002g0026 a0001c0001t0002g0053 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0277 a0001c0001t0004g0050 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0004g0281 a0003c0004t0016g0276	21	410	0.0512	43	c.-47 others(54): Show c.-4792_-4791insACACACCCCTACACCTTGCAGTCACCTGTGCAGA CACACCCCT	SLC16A3	ENSG00000141526.18	transcript	ENST00000582743.6	protein_coding		4700		chr17	TogoVar
SLC16A4_chr1_110357857_110396026	110380058	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0064 a0002c0003t0004g0064	1	432	0.0023	43	c.527 others(58): Show c.527-703_527-702insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	SLC16A4	ENSG00000168679.18	transcript	ENST00000369779.9	protein_coding	5/8			chr1	TogoVar

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