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
SPDYE10_chr7_73099008_73160431	73134523	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02735.hp2 HG03195.hp1 HG01978.hp2 HG02735.hp2 HG03195.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0006 a0001c0001 a0002c0003 a0003c0006	a0001c0001t0003 a0002c0003t0002 a0003c0006t0005 a0001c0001t0003 a0002c0003t0002 a0003c0006t0005	a0001c0001t0003g0175 a0002c0003t0002g0158 a0003c0006t0005g0134 a0001c0001t0003g0175 a0002c0003t0002g0158 a0003c0006t0005g0134	3	216	0.0139	19	c.-63 others(40): Show c.-639-18982_-639-18981insCTTTCTTTCTTTCTTTCTT	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE17_chr7_77017306_77037361	77030080	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01433.hp1 HG01496.hp1 others(5): Show HG01106.hp1 HG01433.hp1 HG01496.hp1 HG01952.hp2 HG02293.hp2 NA18952.hp1 NA18955.hp1 NA18973.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0002 a0002c0002t0004	a0002c0002t0002g0007 a0002c0002t0002g0069 a0002c0002t0004g0047 a0002c0002t0002g0007 a0002c0002t0002g0069 a0002c0002t0004g0047	8	295	0.0271	19	c.130 others(34): Show c.130+342_130+360dupAAAAAAAAAAAAAAAAAAA	SPDYE17	ENSG00000186645.11	transcript	ENST00000671986.3	protein_coding	2/7			chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102547832	G G	GAAAGAAA others(12): Show GAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0117 a0003c0003t0002g0117	1	164	0.0061	19	c.-38 others(30): Show c.-3878_-3877insAAAGAAAGAAAGAAAGAAA	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		3393		chr7	TogoVar
SPDYE6_chr7_102340746_102361444	102359659	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0137 a0003c0003t0003g0137	1	439	0.0023	19	c.-36 others(30): Show c.-3637_-3636insTTTTTTTTTTTTTTTTTTT	SPDYE6	ENSG00000260097.3	transcript	ENST00000563237.3	protein_coding		3216		chr7	TogoVar
SPDYE8_chr7_73014719_73034766	73027468	C C	CTTTTTTT others(12): Show CTTTTTTTTCTTCTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02523.hp2 HG00544.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0102 a0001c0001t0002g0097 a0001c0001t0002g0102	2	138	0.0145	19	c.130 others(34): Show c.130+368_130+369insAAAAAAAGAAGAAAAAAAA	SPDYE8	ENSG00000273520.6	transcript	ENST00000333385.11	protein_coding	2/7			chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24402121	C C	CCCCTTCC others(12): Show CCCCTTCCTTCCCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0176 a0001c0001t0006g0176	1	326	0.0031	19	c.308 others(38): Show c.3088-9463_3088-9445dupTTCCTTCCCCTTCCTTCCC	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1_chr17_20004359_20324026	20194502	A A	ATTATTAT others(12): Show ATTATTATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02922.hp1 HG06807.hp1 others(1): Show HG02895.hp1 HG02922.hp1 HG06807.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0031 a0001c0001t0077 others(1): Show a0001c0001t0030 a0001c0001t0031 a0001c0001t0077 a0001c0001t0098	a0001c0001t0030g0181 a0001c0001t0031g0180 a0001c0001t0077g0170 others(1): Show a0001c0001t0030g0181 a0001c0001t0031g0180 a0001c0001t0077g0170 a0001c0001t0098g0179	4	250	0.0160	19	c.284 others(36): Show c.284-9829_284-9828insATTATTTTTTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20194502	A A	ATTATTTT others(12): Show ATTATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02723.hp2 HG02809.hp2 HG02280.hp1 HG02723.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0086 a0001c0001t0094 a0001c0001t0025 a0001c0001t0086 a0001c0001t0094	a0001c0001t0025g0158 a0001c0001t0086g0159 a0001c0001t0094g0171 a0001c0001t0025g0158 a0001c0001t0086g0159 a0001c0001t0094g0171	3	250	0.0120	19	c.284 others(36): Show c.284-9829_284-9828insATTTTTTTTTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20251224	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0099 a0001c0010t0099	a0001c0010t0099g0173 a0001c0010t0099g0173	1	250	0.0040	19	c.259 others(38): Show c.2599-2264_2599-2263insAAAAAAAAAAAAAAAAAAA	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20317259	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp1 NA18522.hp2 HG02615.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0184 a0001c0001t0026g0186 a0001c0001t0026g0184 a0001c0001t0026g0186	2	250	0.0080	19	c.31 others(30): Show c.3197_*3215dupTTTTTTTTTTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	15/15	3216	INFO_REALIGN_3_PRIME	chr17	TogoVar
SPG11_chr15_44557696_44668662	44587693	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03471.hp2 HG02615.hp1 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0024 a0002c0002t0002g0020 a0002c0002t0002g0024	2	190	0.0105	19	c.490 others(38): Show c.4906+1540_4906+1558dupTTTTTTTTTTTTTTTTTTT	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	28/39			chr15	TogoVar
SPG11_chr15_44557696_44668662	44611091	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19043.hp1 HG03130.hp1 NA19043.hp1	a0008 a0010 a0008 a0010	a0008c0007 a0010c0010 a0008c0007 a0010c0010	a0008c0007t0001 a0010c0010t0001 a0008c0007t0001 a0010c0010t0001	a0008c0007t0001g0150 a0010c0010t0001g0184 a0008c0007t0001g0150 a0010c0010t0001g0184	2	190	0.0105	19	c.314 others(36): Show c.3146-125_3146-107dupTTTTTTTTTTTTTTTTTTT	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	17/39			chr15	TogoVar
SPG7_chr16_89503403_89562766	89536469	G G	GGGTGAGG others(12): Show GGGTGAGGCGGGTGAGGTCA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	358	0.0028	19	c.132 others(38): Show c.1324+3842_1324+3860dupGGGTGAGGTCAGGTGAGGC	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPG7_chr16_89503403_89562766	89536472	T T	TGAGGCCG others(12): Show TGAGGCCGGGTGAGGCGGGC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01106.hp1 NA21309.hp2 HG00741.hp1 HG01106.hp1 NA21309.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0017 a0001c0001 a0007c0017	a0001c0001t0001 a0007c0017t0001 a0001c0001t0001 a0007c0017t0001	a0001c0001t0001g0096 a0001c0001t0001g0226 a0007c0017t0001g0149 a0001c0001t0001g0096 a0001c0001t0001g0226 a0007c0017t0001g0149	3	358	0.0084	19	c.132 others(38): Show c.1324+3841_1324+3842insCGGGTGAGGCGGGCGAGGC	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPG7_chr16_89503403_89562766	89536586	G G	GAGGTGAG others(12): Show GAGGTGAGGCGGGTGAGGTC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	358	0.0028	19	c.132 others(38): Show c.1324+3959_1324+3960insGGGTGAGGTCAGGTGAGGC	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPHK2_chr19_48614506_48635405	48614669	G G	GCCCCACC others(12): Show GCCCCACCCTCACCCATCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG00642.hp2 others(37): Show HG00423.hp2 HG00597.hp2 HG00642.hp2 HG00733.hp1 HG01069.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01256.hp2 HG01257.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02132.hp2 HG02273.hp1 HG03490.hp1 HG03834.hp2 NA18944.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18962.hp1 NA18966.hp1 NA18980.hp1 NA18998.hp1 NA18999.hp2 NA19007.hp2 NA19011.hp2 NA19058.hp2 NA19063.hp2 NA19067.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0004t0003 a0001c0001t0001 a0001c0004t0001 a0001c0004t0003	a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0022 others(15): Show a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0004t0001g0004 a0001c0004t0001g0022 a0001c0004t0001g0023 a0001c0004t0001g0087 a0001c0004t0001g0089 a0001c0004t0003g0004	40	398	0.1005	19	c.-49 others(30): Show c.-4988_-4987insCCCCACCCTCACCCATCCC	SPHK2	ENSG00000063176.16	transcript	ENST00000245222.9	protein_coding		4836		chr19	TogoVar
SPHKAP_chr2_227974955_228186687	228055142	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp1 NA20300.hp2 HG01243.hp2 HG02486.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0126 a0001c0001t0002g0261 a0001c0001t0002g0262	3	322	0.0093	19	c.247 others(38): Show c.247-27600_247-27599insTTTTTTTTTTTTTTTTTTT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228138914	G G	GGTGAGAA others(12): Show GGTGAGAACATTTTATTACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(207): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18944.hp2 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp2 NA19005.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0013 a0015 a0016 a0017 a0019 a0020 a0021	a0001c0001 a0002c0002 a0002c0015 others(21): Show a0001c0001 a0002c0002 a0002c0015 a0003c0005 a0003c0006 a0003c0014 a0003c0024 a0004c0004 a0004c0018 a0004c0020 a0005c0003 a0005c0019 a0006c0007 a0007c0008 a0008c0009 a0010c0011 a0011c0016 a0013c0026 a0015c0029 a0016c0023 a0017c0022 a0019c0030 a0020c0017 a0021c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0002c0002t0001 a0002c0002t0013 a0002c0015t0001 a0003c0005t0001 a0003c0005t0005 a0003c0005t0006 a0003c0005t0007 a0003c0006t0001 a0003c0014t0001 a0003c0024t0001 a0004c0004t0003 a0004c0018t0003 a0004c0020t0003 a0005c0003t0001 a0005c0003t0002 a0005c0003t0003 a0005c0003t0004 a0005c0003t0010 a0005c0019t0003 a0006c0007t0001 a0006c0007t0010 a0007c0008t0008 a0008c0009t0003 a0010c0011t0001 a0011c0016t0001 a0013c0026t0007 a0015c0029t0002 a0016c0023t0008 a0017c0022t0001 a0019c0030t0001 a0020c0017t0012 a0021c0031t0015	a0001c0001t0001g0093 a0001c0001t0002g0006 a0001c0001t0002g0019 others(207): Show a0001c0001t0001g0093 a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0035 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0114 a0001c0001t0002g0120 a0001c0001t0002g0126 a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0225 a0001c0001t0002g0228 a0001c0001t0002g0241 a0001c0001t0002g0246 a0001c0001t0002g0249 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0291 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0319 a0001c0001t0008g0264 a0001c0001t0011g0084 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0164 a0002c0002t0001g0166 a0002c0002t0001g0169 a0002c0002t0001g0173 a0002c0002t0001g0178 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0197 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0220 a0002c0002t0001g0223 a0002c0002t0001g0239 a0002c0002t0001g0242 a0002c0002t0001g0256 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0013g0145 a0002c0015t0001g0175 a0003c0005t0001g0076 a0003c0005t0001g0077 a0003c0005t0001g0078 a0003c0005t0001g0079 a0003c0005t0001g0080 a0003c0005t0001g0094 a0003c0005t0001g0119 a0003c0005t0001g0127 a0003c0005t0001g0128 a0003c0005t0001g0129 a0003c0005t0001g0248 a0003c0005t0001g0260 a0003c0005t0001g0294 a0003c0005t0001g0307 a0003c0005t0005g0086 a0003c0005t0005g0087 a0003c0005t0006g0108 a0003c0005t0006g0121 a0003c0005t0006g0122 a0003c0005t0007g0140 a0003c0005t0007g0144 a0003c0005t0007g0174 a0003c0005t0007g0177 a0003c0006t0001g0075 a0003c0006t0001g0097 a0003c0006t0001g0098 a0003c0006t0001g0099 a0003c0014t0001g0124 a0003c0014t0001g0125 a0003c0024t0001g0288 a0004c0004t0003g0020 a0004c0004t0003g0021 a0004c0004t0003g0068 a0004c0004t0003g0069 a0004c0004t0003g0070 a0004c0004t0003g0071 a0004c0004t0003g0072 a0004c0004t0003g0113 a0004c0004t0003g0123 a0004c0004t0003g0130 a0004c0004t0003g0131 a0004c0004t0003g0141 a0004c0004t0003g0150 a0004c0004t0003g0151 a0004c0004t0003g0179 a0004c0004t0003g0188 a0004c0004t0003g0194 a0004c0004t0003g0205 a0004c0004t0003g0206 a0004c0004t0003g0211 a0004c0004t0003g0215 a0004c0004t0003g0226 a0004c0004t0003g0227 a0004c0004t0003g0231 a0004c0004t0003g0233 a0004c0004t0003g0234 a0004c0004t0003g0235 a0004c0004t0003g0237 a0004c0004t0003g0240 a0004c0004t0003g0243 a0004c0004t0003g0244 a0004c0004t0003g0245 a0004c0004t0003g0253 a0004c0004t0003g0259 a0004c0004t0003g0287 a0004c0004t0003g0304 a0004c0018t0003g0172 a0004c0020t0003g0142 a0005c0003t0001g0073 a0005c0003t0001g0132 a0005c0003t0001g0133 a0005c0003t0001g0139 a0005c0003t0001g0160 a0005c0003t0001g0162 a0005c0003t0001g0170 a0005c0003t0001g0171 a0005c0003t0001g0184 a0005c0003t0001g0191 a0005c0003t0001g0208 a0005c0003t0001g0230 a0005c0003t0001g0247 a0005c0003t0001g0265 a0005c0003t0001g0289 a0005c0003t0001g0290 a0005c0003t0001g0293 a0005c0003t0001g0295 a0005c0003t0001g0303 a0005c0003t0001g0305 a0005c0003t0001g0306 a0005c0003t0002g0067 a0005c0003t0002g0193 a0005c0003t0002g0229 a0005c0003t0002g0250 a0005c0003t0002g0272 a0005c0003t0003g0238 a0005c0003t0004g0311 a0005c0003t0004g0312 a0005c0003t0004g0313 a0005c0003t0004g0314 a0005c0003t0004g0315 a0005c0003t0010g0322 a0005c0019t0003g0111 a0006c0007t0001g0134 a0006c0007t0001g0135 a0006c0007t0001g0189 a0006c0007t0001g0201 a0006c0007t0010g0321 a0007c0008t0008g0088 a0007c0008t0008g0096 a0007c0008t0008g0320 a0008c0009t0003g0154 a0008c0009t0003g0251 a0010c0011t0001g0176 a0010c0011t0001g0202 a0010c0011t0001g0203 a0011c0016t0001g0074 a0013c0026t0007g0187 a0015c0029t0002g0257 a0016c0023t0008g0224 a0017c0022t0001g0159 a0019c0030t0001g0182 a0020c0017t0012g0292 a0021c0031t0015g0266	210	322	0.6522	19	c.33- others(34): Show c.33-6830_33-6829insTGTAATAAAATGTTCTCAC	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228154532	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0256 a0002c0002t0001g0256	1	322	0.0031	19	c.33- others(36): Show c.33-22448_33-22447insATATATATATATATATATA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228154532	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0006 a0003c0005t0006	a0003c0005t0006g0116 a0003c0005t0006g0116	1	322	0.0031	19	c.33- others(36): Show c.33-22448_33-22447insAAAAATATATATATATATA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPIB_chr19_50413938_50436314	50436076	G G	GTGGTTCA others(12): Show GTGGTTCAAGGGGAAGTGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0001	1	388	0.0026	19	c.77 others(30): Show c.7740_*7741insTGGTTCAAGGGGAAGTGGC	SPIB	ENSG00000269404.7	transcript	ENST00000595883.6	protein_coding		4763		chr19	TogoVar
SPIDR_chr8_47255938_47741306	47355271	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03209.hp2 HG03453.hp1 others(2): Show HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03516.hp2 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0058 a0002c0002t0001g0061 a0002c0002t0001g0063 others(2): Show a0002c0002t0001g0058 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0066 a0002c0002t0002g0068	5	216	0.0232	19	c.526 others(38): Show c.526-41102_526-41084dupAAAAAAAAAAAAAAAAAAA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA19084.hp2 HG02300.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0118 a0001c0001t0001g0088 a0001c0001t0001g0118	2	216	0.0093	19	c.109 others(40): Show c.1098-29818_1098-29817insATATATATATATATATTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	216	0.0046	19	c.109 others(40): Show c.1098-29818_1098-29817insATATATATATATATTTTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	216	0.0046	19	c.109 others(40): Show c.1098-29818_1098-29817insATATATATATATTTTTTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47640841	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	216	0.0046	19	c.154 others(40): Show c.1545-32934_1545-32916dupTTTTTTTTTTTTTTTTTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47647654	G G	GAGAGAGA others(12): Show GAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	216	0.0046	19	c.154 others(40): Show c.1545-26147_1545-26146insAGAGAGAGAGAGAGAGAGA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	10/19			chr8	TogoVar
SPIDR_chr8_47255938_47741306	47740915	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0059 a0002c0002t0002g0059	1	216	0.0046	19	c.54 others(30): Show c.5465_*5466insAAAAAAAAAAAAAAAAAAA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding		4610		chr8	TogoVar
SPINDOC_chr11_63808456_63832716	63831060	A A	AATCACTT others(12): Show AATCACTTCAAGTCAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG02071.hp1 NA18970.hp1 others(3): Show HG00408.hp2 HG02071.hp1 NA18970.hp1 NA18972.hp1 NA18977.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0173 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0173 a0001c0002t0002g0001	6	392	0.0153	19	c.39 others(30): Show c.3921_*3922insATCACTTCAAGTCAGGAGG	SPINDOC	ENSG00000168005.9	transcript	ENST00000294244.9	protein_coding		3345		chr11	TogoVar
SPINK13_chr5_148263794_148291255	148267272	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02818.hp2 HG02647.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0137 a0001c0001t0001g0054 a0001c0001t0001g0137	2	376	0.0053	19	c.-16 others(30): Show c.-1650_-1649insTTTTTTTTTTTTTTTTTTT	SPINK13	ENSG00000214510.10	transcript	ENST00000398450.5	protein_coding		1521		chr5	TogoVar
SPINT2_chr19_38259573_38297615	38289484	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	400	0.0025	19	c.391 others(34): Show c.391+304_391+322dupAAAAAAAAAAAAAAAAAAA	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPINT4_chr20_45717347_45730830	45724979	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01952.hp1 HG00642.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0137 a0001c0001t0003g0138	2	458	0.0044	19	c.294 others(34): Show c.294-633_294-632insAAAAAAAAAAAAAAAAAAA	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPIRE1_chr18_12441512_12663107	12615335	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	328	0.0031	19	c.372 others(38): Show c.372+19726_372+19727insATTTTTTTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03491.hp2 HG03710.hp2 others(2): Show HG02523.hp2 HG03491.hp2 HG03710.hp2 HG04204.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0001 a0001c0001t0027	a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0138 others(2): Show a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0138 a0001c0001t0001g0177 a0001c0001t0027g0128	5	328	0.0152	19	c.372 others(38): Show c.372+19716_372+19717insATTTTTTTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18947.hp2 NA18961.hp1 others(2): Show HG02257.hp2 NA18947.hp2 NA18961.hp1 NA18968.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0001 a0001c0001t0003 a0001c0001t0011	a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0139 others(2): Show a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0003g0299 a0001c0001t0011g0328	5	328	0.0152	19	c.372 others(38): Show c.372+19716_372+19717insATATTTTTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	328	0.0031	19	c.372 others(38): Show c.372+19716_372+19717insATATATTTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02135.hp1 HG02273.hp1 HG01496.hp2 HG02135.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0282 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0282 a0001c0001t0003g0293 a0001c0001t0003g0294	3	328	0.0092	19	c.372 others(38): Show c.372+19716_372+19717insATATATATTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02004.hp2 NA19002.hp1 HG01361.hp1 HG02004.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0003 a0001c0001t0003 a0001c0004t0003	a0001c0001t0003g0295 a0001c0001t0003g0311 a0001c0004t0003g0322 a0001c0001t0003g0295 a0001c0001t0003g0311 a0001c0004t0003g0322	3	328	0.0092	19	c.372 others(38): Show c.372+19716_372+19717insATATATATATTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615542	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG04184.hp2 HG06807.hp1 others(6): Show HG03540.hp1 HG04184.hp2 HG06807.hp1 NA18947.hp2 NA18952.hp2 NA18961.hp1 NA18964.hp1 NA19000.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0120 a0001c0001t0001g0129 a0001c0001t0001g0134 others(6): Show a0001c0001t0001g0120 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0161 a0001c0001t0003g0289 a0001c0001t0003g0301 a0001c0001t0003g0306 a0001c0001t0003g0314	9	328	0.0274	19	c.372 others(38): Show c.372+19519_372+19520insTTTTTTTTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE2_chr16_89823475_89876319	89842208	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA18995.hp1 HG01993.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0237 a0001c0001t0004g0212 a0001c0001t0001g0237 a0001c0001t0004g0212	2	356	0.0056	19	c.245 others(36): Show c.245-3110_245-3092dupTTTTTTTTTTTTTTTTTTT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869045	A A	ACATATAT others(12): Show ACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02015.hp1 HG02129.hp1 others(5): Show HG00673.hp1 HG02015.hp1 HG02129.hp1 NA18612.hp1 NA18940.hp1 NA18960.hp1 NA18994.hp1 NA19070.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0001 a0002c0002 a0005c0007 others(1): Show a0001c0001 a0002c0002 a0005c0007 a0008c0013	a0001c0001t0002 a0002c0002t0002 a0005c0007t0002 others(1): Show a0001c0001t0002 a0002c0002t0002 a0005c0007t0002 a0008c0013t0002	a0001c0001t0002g0051 a0002c0002t0002g0028 a0002c0002t0002g0031 others(5): Show a0001c0001t0002g0051 a0002c0002t0002g0028 a0002c0002t0002g0031 a0002c0002t0002g0037 a0002c0002t0002g0040 a0002c0002t0002g0042 a0005c0007t0002g0041 a0008c0013t0002g0033	8	356	0.0225	19	c.180 others(36): Show c.1807-522_1807-521insCATATATATATATATATAT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14			chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	356	0.0028	19	c.180 others(36): Show c.1807-513_1807-512insAAAAAAAAAAAAATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18522.hp1 NA19057.hp2 HG00597.hp1 NA18522.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0162 a0001c0001t0001g0184 a0001c0001t0001g0107 a0001c0001t0001g0162 a0001c0001t0001g0184	3	356	0.0084	19	c.180 others(36): Show c.1807-513_1807-512insAAAAAAAAATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01891.hp1 HG02300.hp2 others(4): Show HG00323.hp2 HG01891.hp1 HG02300.hp2 NA18522.hp2 NA18906.hp1 NA18970.hp1 NA19074.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0282 others(4): Show a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0282 a0001c0001t0001g0327 a0001c0001t0001g0349 a0001c0001t0001g0353 a0004c0004t0001g0194	7	356	0.0197	19	c.180 others(36): Show c.1807-513_1807-512insAAAAAAATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01123.hp2 HG01243.hp2 others(3): Show HG00280.hp1 HG01123.hp2 HG01243.hp2 HG01516.hp1 HG01517.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0152 a0001c0001t0001g0263 a0001c0001t0001g0289 others(3): Show a0001c0001t0001g0152 a0001c0001t0001g0263 a0001c0001t0001g0289 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0003t0001g0274	6	356	0.0169	19	c.180 others(36): Show c.1807-513_1807-512insAAAAATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02965.hp1 HG01109.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0322 a0001c0001t0001g0308 a0001c0001t0001g0322	2	356	0.0056	19	c.180 others(36): Show c.1807-513_1807-512insAAATATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPNS2_chr17_4493881_4544035	4494974	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0044 a0001c0002t0044	a0001c0002t0044g0232 a0001c0002t0044g0232	1	404	0.0025	19	c.-40 others(30): Show c.-4074_-4073insAAAAAAAAAAAAAAAAAAA	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding		3906		chr17	TogoVar
SPNS3_chr17_4428940_4493204	4436023	A A	AACTGTGG others(12): Show AACTGTGGGCAGGACTCCCC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0320 a0001c0003t0001g0320	1	362	0.0028	19	c.199 others(36): Show c.199+1871_199+1872insTCCCCACTGTGGGCAGGAC	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4442017	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0310 a0001c0003t0001g0310	1	362	0.0028	19	c.265 others(36): Show c.265+2294_265+2295insGTGTGTGTGTGTGTGTGTG	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	2/11			chr17	TogoVar
SPNS3_chr17_4428940_4493204	4458594	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01361.hp1 others(2): Show HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0099 a0003c0008t0003g0100 a0003c0008t0003g0101 others(2): Show a0003c0008t0003g0099 a0003c0008t0003g0100 a0003c0008t0003g0101 a0003c0008t0003g0102 a0003c0008t0003g0103	5	362	0.0138	19	c.111 others(38): Show c.1113+5392_1113+5410dupCTTTCTTTCTTTCTTTCTT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar

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