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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SPDYE2_chr7_102546226_102568538	102547850	A A	AAAGAAAG others(14): Show AAAGAAAGAAAGAAAGAAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0024 a0001c0023t0024	a0001c0023t0024g0047 a0001c0023t0024g0047	1	164	0.0061	21	c.-38 others(32): Show c.-3860_-3859insAAGAAAGAAAGAAAGAAAGAG		SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding					3375		chr7	TogoVar
SPDYE5_chr7_75487320_75509316	75493495	T T	TCTCTTGT others(14): Show TCTCTTGTACATGATAATCTCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp1 HG01884.hp2 others(9): Show HG00639.hp1 HG01074.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp2 HG02109.hp2 HG02451.hp2 HG02630.hp2 HG02809.hp2 HG02976.hp2 HG03098.hp1 NA19240.hp1	a0002 a0017 a0002 a0017	a0002c0002 a0017c0016 a0002c0002 a0017c0016	a0002c0002t0004 a0002c0002t0013 a0017c0016t0013 a0002c0002t0004 a0002c0002t0013 a0017c0016t0013	a0002c0002t0004g0008 a0002c0002t0004g0138 a0002c0002t0004g0140 others(6): Show a0002c0002t0004g0008 a0002c0002t0004g0138 a0002c0002t0004g0140 a0002c0002t0004g0148 a0002c0002t0004g0149 a0002c0002t0004g0150 a0002c0002t0013g0008 a0002c0002t0013g0139 a0017c0016t0013g0008	12	408	0.0294	21	c.-42 others(36): Show c.-421-84_-421-64dupGTACATGATAATCTCACTCTT		SPDYE5	ENSG00000170092.15	transcript	ENST00000625065.4	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE6_chr7_102340746_102361444	102348439	G G	GTATGCGG others(14): Show GTATGCGGAGAGCGGTTCTTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18978.hp2 NA18978.hp2	a0018 a0018	a0018c0026 a0018c0026	a0018c0026t0017 a0018c0026t0017	a0018c0026t0017g0072 a0018c0026t0017g0072	1	439	0.0023	21	c.993 others(28): Show c.993_994insGGAAGAACCGCTCTCCGCATA	p.Ile others(34): Show p.Ile331_Pro332insGlyArgThrAlaLeuArgIle	SPDYE6	ENSG00000260097.3	transcript	ENST00000563237.3	protein_coding	6/8	1414/3151	993/1209	331/402			chr7	TogoVar
SPDYE6_chr7_102340746_102361444	102359659	G G	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01884.hp1 HG02886.hp2 others(8): Show HG01106.hp1 HG01884.hp1 HG02886.hp2 HG02896.hp2 HG02970.hp2 HG03098.hp2 HG03225.hp1 HG03516.hp2 HG06807.hp1 NA19030.hp2 NA19043.hp2	a0004 a0007 a0004 a0007	a0004c0005 a0007c0011 a0004c0005 a0007c0011	a0004c0005t0003 a0007c0011t0003 a0004c0005t0003 a0007c0011t0003	a0004c0005t0003g0036 a0004c0005t0003g0142 a0004c0005t0003g0144 others(8): Show a0004c0005t0003g0036 a0004c0005t0003g0142 a0004c0005t0003g0144 a0004c0005t0003g0145 a0004c0005t0003g0148 a0004c0005t0003g0151 a0004c0005t0003g0153 a0004c0005t0003g0154 a0004c0005t0003g0159 a0004c0005t0003g0160 a0007c0011t0003g0161	11	439	0.0251	21	c.-36 others(32): Show c.-3637_-3636insTTTTTTTTTTTTTTTTTTTTT		SPDYE6	ENSG00000260097.3	transcript	ENST00000563237.3	protein_coding					3216		chr7	TogoVar
SPDYE8_chr7_73014719_73034766	73027468	C C	CTTTTTTT others(14): Show CTTTTTTTCTTCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0095 a0002c0002t0004g0095	1	138	0.0073	21	c.130 others(36): Show c.130+368_130+369insAAAAAAAAAAGAAGAAAAAAA		SPDYE8	ENSG00000273520.6	transcript	ENST00000333385.11	protein_coding	2/7						chr7	TogoVar
SPDYE8_chr7_73014719_73034766	73027468	C C	CTTTTTTT others(14): Show CTTTTTTTTCTTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG04115.hp2 HG00621.hp1 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0004 a0001c0001t0002 a0002c0002t0004	a0001c0001t0002g0096 a0002c0002t0004g0104 a0001c0001t0002g0096 a0002c0002t0004g0104	2	138	0.0145	21	c.130 others(36): Show c.130+368_130+369insAAAAAAAAAGAAGAAAAAAAA		SPDYE8	ENSG00000273520.6	transcript	ENST00000333385.11	protein_coding	2/7						chr7	TogoVar
SPDYE8_chr7_73014719_73034766	73027468	C C	CTTTTTTT others(14): Show CTTTTTTTTTCTTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0017 a0002c0002t0004g0017	1	138	0.0073	21	c.130 others(36): Show c.130+368_130+369insAAAAAAAAGAAGAAAAAAAAA		SPDYE8	ENSG00000273520.6	transcript	ENST00000333385.11	protein_coding	2/7						chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24288615	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA19082.hp1 NA18968.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0016 a0001c0001t0004g0029 a0001c0001t0004g0016 a0001c0001t0004g0029	2	326	0.0061	21	c.-38 others(40): Show c.-38+11821_-38+11841dupTTTTTTTTTTTTTTTTTTTTT		SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1_chr17_20004359_20324026	20194502	A A	ATTATTAT others(14): Show ATTATTATTATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03017.hp2 HG00642.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0112 a0001c0001t0006g0247 a0001c0001t0002g0112 a0001c0001t0006g0247	2	250	0.0080	21	c.284 others(38): Show c.284-9829_284-9828insATTATTATTTTTTTTTTTTTT		SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20194502	A A	ATTATTAT others(14): Show ATTATTATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01192.hp2 HG01934.hp2 others(4): Show HG01099.hp1 HG01192.hp2 HG01934.hp2 HG01943.hp2 HG02572.hp2 NA18944.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0013 a0001c0001t0027 a0001c0011t0010	a0001c0001t0002g0244 a0001c0001t0002g0248 a0001c0001t0004g0172 others(4): Show a0001c0001t0002g0244 a0001c0001t0002g0248 a0001c0001t0004g0172 a0001c0001t0010g0250 a0001c0001t0013g0249 a0001c0001t0027g0185 a0001c0011t0010g0136	7	250	0.0280	21	c.284 others(38): Show c.284-9829_284-9828insATTATTTTTTTTTTTTTTTTT		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(14): Show ATTATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02615.hp1 HG02976.hp2 others(9): Show HG00741.hp2 HG02615.hp1 HG02976.hp2 HG03195.hp2 HG03239.hp2 HG03486.hp1 HG03654.hp1 HG03669.hp2 NA18957.hp1 NA18980.hp2 NA19066.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0011 a0001c0001 a0001c0008 a0001c0011	a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 others(8): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0001c0001t0025 a0001c0001t0026 a0001c0001t0074 a0001c0001t0080 a0001c0001t0095 a0001c0008t0088 a0001c0008t0104 a0001c0011t0006	a0001c0001t0002g0110 a0001c0001t0002g0201 a0001c0001t0006g0133 others(9): Show a0001c0001t0002g0110 a0001c0001t0002g0201 a0001c0001t0006g0133 a0001c0001t0014g0175 a0001c0001t0025g0155 a0001c0001t0026g0184 a0001c0001t0074g0130 a0001c0001t0080g0199 a0001c0001t0095g0221 a0001c0008t0088g0124 a0001c0008t0104g0104 a0001c0011t0006g0135	12	250	0.0480	21	c.284 others(38): Show c.284-9829_284-9828insATTTTTTTTTTTTTTTTTTTT		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(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0091 a0001c0006t0091	a0001c0006t0091g0193 a0001c0006t0091g0193	1	250	0.0040	21	c.259 others(40): Show c.2599-2264_2599-2263insAAAAAAAAAAAAAAAAAAAAA		SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr17	TogoVar
SPG11_chr15_44557696_44668662	44611091	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0181 a0010c0010t0001g0181	1	190	0.0053	21	c.314 others(38): Show c.3146-127_3146-107dupTTTTTTTTTTTTTTTTTTTTT		SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	17/39						chr15	TogoVar
SPG11_chr15_44557696_44668662	44633324	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	190	0.0053	21	c.173 others(38): Show c.1735+160_1735+180dupTTTTTTTTTTTTTTTTTTTTT		SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	8/39						chr15	TogoVar
SPG7_chr16_89503403_89562766	89538955	T T	TGAACACT others(14): Show TGAACACTGAGGATACTGTGGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02109.hp1 HG02258.hp2 others(4): Show HG01081.hp1 HG02109.hp1 HG02258.hp2 HG02572.hp1 HG02809.hp1 HG03139.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0009 a0001c0005t0010	a0001c0001t0001g0228 a0001c0001t0002g0219 a0001c0001t0002g0227 others(4): Show a0001c0001t0001g0228 a0001c0001t0002g0219 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0005t0009g0339 a0001c0005t0010g0235	7	358	0.0196	21	c.132 others(40): Show c.1325-5692_1325-5672dupGAACACTGAGGATACTGTGGG		SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	9/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
SPI1_chr11_47349860_47383547	47380561	T T	TTTGTTGT others(14): Show TTTGTTGTTGTTGTTGTTGTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00423.hp1 others(41): Show HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp2 HG00642.hp1 HG01070.hp1 HG01081.hp2 HG01123.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01496.hp1 HG01496.hp2 HG01943.hp2 HG02004.hp2 HG02145.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02572.hp1 HG02630.hp1 HG02647.hp1 HG02738.hp2 HG02886.hp1 HG02970.hp1 HG03041.hp1 HG03209.hp2 HG03453.hp2 HG03654.hp2 NA18959.hp2 NA18962.hp1 NA18977.hp2 NA19001.hp1 NA19007.hp2 NA19055.hp1 NA19060.hp2 NA19088.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(30): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0122 a0001c0001t0001g0129 a0001c0001t0001g0160 a0001c0001t0001g0232 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0135	44	390	0.1128	21	c.-22 others(32): Show c.-2229_-2209dupCAACAACAACAACAACAACAA		SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding					2015		chr11	TogoVar
SPICE1_chr3_113437718_113520156	113480931	A A	AGAAAGAA others(14): Show AGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19087.hp1 HG02055.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0253 a0001c0002t0003g0300 a0001c0002t0003g0253 a0001c0002t0003g0300	2	364	0.0055	21	c.611 others(38): Show c.611+8013_611+8014insCTTTCTTTCTTTCTTTCTTTC		SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17						chr3	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA19064.hp2 HG01346.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0104 a0001c0001t0001g0111	2	216	0.0093	21	c.109 others(42): Show c.1098-29818_1098-29817insATATATATATATATATATATT		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(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG04204.hp1 HG01255.hp2 HG04204.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0006c0006t0002 a0001c0001t0001 a0006c0006t0002	a0001c0001t0001g0082 a0006c0006t0002g0015 a0001c0001t0001g0082 a0006c0006t0002g0015	2	216	0.0093	21	c.109 others(42): Show c.1098-29818_1098-29817insATATATATATATATATATTTT		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(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01106.hp1 HG00733.hp2 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0085 a0001c0001t0001g0086	2	216	0.0093	21	c.109 others(42): Show c.1098-29818_1098-29817insATATATATATATATATTTTTT		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(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	216	0.0046	21	c.109 others(42): Show c.1098-29818_1098-29817insATATATATATATTTTTTTTTT		SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47565993	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	216	0.0046	21	c.109 others(42): Show c.1098-29818_1098-29817insATATATATATATATATATATA		SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19						chr8	TogoVar
SPIDR_chr8_47255938_47741306	47647616	A A	AGAGAGAG others(14): Show AGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	216	0.0046	21	c.154 others(42): Show c.1545-26185_1545-26184insGAGAGAGAGAGAGAGAGAGAG		SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	10/19						chr8	TogoVar
SPINK13_chr5_148263794_148291255	148267272	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02572.hp1 others(1): Show HG01069.hp2 HG01071.hp1 HG02572.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0013 a0001c0001t0001g0030	4	376	0.0106	21	c.-16 others(32): Show c.-1650_-1649insTTTTTTTTTTTTTTTTTTTTT		SPINK13	ENSG00000214510.10	transcript	ENST00000398450.5	protein_coding					1521		chr5	TogoVar
SPINK8_chr3_48301842_48338661	48315720	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	262	0.0038	21	c.239 others(38): Show c.239+3756_239+3776dupTTTTTTTTTTTTTTTTTTTTT		SPINK8	ENSG00000229453.3	transcript	ENST00000434006.3	protein_coding	6/7						chr3	TogoVar
SPINT2_chr19_38259573_38297615	38268771	G G	GTGTGTGT others(14): Show GTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	400	0.0025	21	c.106 others(38): Show c.106+3792_106+3793insGTTGTGTGTGTGTGTGTGTGT		SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
SPINT2_chr19_38259573_38297615	38289484	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	400	0.0025	21	c.391 others(36): Show c.391+302_391+322dupAAAAAAAAAAAAAAAAAAAAA		SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
SPINT4_chr20_45717347_45730830	45724995	A A	ATATATAT others(14): Show ATATATATATATATATACACAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0090	1	458	0.0022	21	c.294 others(36): Show c.294-634_294-633insTATATATATATATATACACAT		SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2						chr20	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18967.hp1 HG04184.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0134 a0001c0001t0001g0058 a0001c0001t0001g0134	2	328	0.0061	21	c.372 others(40): Show c.372+19716_372+19717insATATTTTTTTTTTTTTTTTTT		SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16						chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	328	0.0031	21	c.372 others(40): Show c.372+19716_372+19717insATATATTTTTTTTTTTTTTTT		SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16						chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01952.hp2 HG03516.hp1 others(1): Show HG01168.hp2 HG01952.hp2 HG03516.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0032 a0001c0001t0003 a0001c0001t0010 a0001c0001t0032	a0001c0001t0003g0276 a0001c0001t0003g0315 a0001c0001t0010g0310 others(1): Show a0001c0001t0003g0276 a0001c0001t0003g0315 a0001c0001t0010g0310 a0001c0001t0032g0316	4	328	0.0122	21	c.372 others(40): Show c.372+19716_372+19717insATATATATTTTTTTTTTTTTT		SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16						chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA18962.hp2 NA19000.hp2 HG02895.hp1 NA18962.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0271 a0001c0001t0003g0286 a0001c0001t0003g0314 a0001c0001t0003g0271 a0001c0001t0003g0286 a0001c0001t0003g0314	3	328	0.0092	21	c.372 others(40): Show c.372+19716_372+19717insATATATATATTTTTTTTTTTT		SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16						chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615542	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG04204.hp1 HG02486.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0138 a0001c0001t0003g0280 a0001c0001t0001g0138 a0001c0001t0003g0280	2	328	0.0061	21	c.372 others(40): Show c.372+19519_372+19520insTTTTTTTTTTTTTTTTTTTTT		SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16						chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12660730	A A	AGTTGCAG others(14): Show AGTTGCAGTATATATCACTGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	328	0.0031	21	c.-28 others(32): Show c.-2865_-2864insAACAGTGATATATACTGCAAC		SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding					2624		chr18	TogoVar
SPIRE2_chr16_89823475_89876319	89869045	A A	ACATATAT others(14): Show ACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02083.hp1 HG02056.hp1 HG02083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0043 a0002c0002t0002g0029 a0002c0002t0002g0043	2	356	0.0056	21	c.180 others(38): Show c.1807-522_1807-521insCATATATATATATATATATAT		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14						chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03130.hp1 HG03453.hp1 others(1): Show HG02615.hp2 HG03130.hp1 HG03453.hp1 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 others(1): Show a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0231	4	356	0.0112	21	c.180 others(38): Show c.1807-513_1807-512insAAAAAAAAATATATATATATA		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(14): Show AAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA19065.hp2 NA18983.hp2 NA19065.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0275 a0001c0003t0005g0276 a0001c0003t0005g0275 a0001c0003t0005g0276	2	356	0.0056	21	c.180 others(38): Show c.1807-513_1807-512insAAAAAAATATATATATATATA		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(14): Show AAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02970.hp1 NA18998.hp2 HG02258.hp2 HG02970.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0151 a0001c0001t0001g0249 a0001c0003t0001g0277 a0001c0001t0001g0151 a0001c0001t0001g0249 a0001c0003t0001g0277	3	356	0.0084	21	c.180 others(38): Show c.1807-513_1807-512insAAAAATATATATATATATATA		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(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	356	0.0028	21	c.180 others(38): Show c.1807-513_1807-512insAAATATATATATATATATATA		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0005 a0001c0012t0005	a0001c0012t0005g0272 a0001c0012t0005g0272	1	356	0.0028	21	c.180 others(38): Show c.1807-513_1807-512insATATATATATATATATATATA		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0013 a0001c0006t0001g0013	1	356	0.0028	21	c.180 others(38): Show c.1807-514_1807-513insTATATATATATATATATATAT		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14						chr16	TogoVar
SPNS2_chr17_4493881_4544035	4494974	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02647.hp1 HG02896.hp1 others(3): Show HG01243.hp1 HG02647.hp1 HG02896.hp1 HG02897.hp1 HG03579.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0003t0004	a0001c0001t0001g0229 a0001c0001t0003g0231 a0001c0001t0006g0015 others(2): Show a0001c0001t0001g0229 a0001c0001t0003g0231 a0001c0001t0006g0015 a0001c0001t0011g0362 a0001c0003t0004g0230	6	404	0.0149	21	c.-40 others(32): Show c.-4074_-4073insAAAAAAAAAAAAAAAAAAAAA		SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding					3906		chr17	TogoVar
SPNS3_chr17_4428940_4493204	4458621	C C	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02155.hp2 HG02723.hp2 others(2): Show HG00639.hp2 HG02155.hp2 HG02723.hp2 HG03834.hp1 NA19064.hp2	a0001 a0003 a0001 a0003	a0001c0045 a0003c0005 a0003c0008 others(1): Show a0001c0045 a0003c0005 a0003c0008 a0003c0051	a0001c0045t0003 a0003c0005t0001 a0003c0008t0003 others(1): Show a0001c0045t0003 a0003c0005t0001 a0003c0008t0003 a0003c0051t0001	a0001c0045t0003g0152 a0003c0005t0001g0142 a0003c0005t0001g0237 others(2): Show a0001c0045t0003g0152 a0003c0005t0001g0142 a0003c0005t0001g0237 a0003c0008t0003g0143 a0003c0051t0001g0013	5	362	0.0138	21	c.111 others(40): Show c.1113+5419_1113+5439dupTCTTTCTTTCTTTCTTTCTTT		SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG03453.hp1 HG02145.hp1 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0064 a0002c0002t0001g0226 a0001c0001t0001g0064 a0002c0002t0001g0226	2	260	0.0077	21	c.-12 others(32): Show c.-1200_-1199insAAAAAAAAATATATATATATA		SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding					1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03942.hp2 NA19058.hp2 HG03453.hp2 HG03942.hp2 NA19058.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0229 a0002c0002t0002g0212 a0002c0002t0002g0235 a0002c0002t0001g0229 a0002c0002t0002g0212 a0002c0002t0002g0235	3	260	0.0115	21	c.-12 others(32): Show c.-1200_-1199insAAAAAAAAAAATATATATATA		SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding					1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02074.hp2 others(3): Show HG01884.hp2 HG01891.hp1 HG02074.hp2 HG02886.hp2 NA18962.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0224 a0002c0002t0001g0230 a0002c0002t0001g0231 others(3): Show a0002c0002t0001g0224 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0002g0190 a0002c0002t0002g0193 a0002c0002t0002g0214	6	260	0.0231	21	c.-12 others(32): Show c.-1200_-1199insAAAAAAAAAAAAATATATATA		SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding					1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0208 a0002c0002t0001g0208	1	260	0.0039	21	c.-12 others(32): Show c.-1200_-1199insAAAAAAAAAAAAAAATATATA		SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding					1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATTTTT others(14): Show ATATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0177 a0002c0002t0002g0177	1	260	0.0039	21	c.-12 others(32): Show c.-1200_-1199insAAAAAAAAAAAAAAAAAAATA		SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding					1099		chr1	TogoVar
SPOCK3_chr4_166728384_167239494	166728827	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA19070.hp1 NA18947.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0053 a0001c0001t0001g0054	2	144	0.0139	21	c.60 others(32): Show c.6093_*6094insTTTTTTTTTTTTTTTTTTTTT		SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding					4556		chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166800183	G G	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02040.hp2 HG03225.hp1 HG01952.hp1 HG02040.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0092 a0001c0001t0001g0129 a0001c0001t0004g0105 a0001c0001t0001g0092 a0001c0001t0001g0129 a0001c0001t0004g0105	3	144	0.0208	21	c.590 others(38): Show c.590-7915_590-7895dupTTTTTTTTTTTTTTTTTTTTT		SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10						chr4	TogoVar

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