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
ITIH1_chr3_52772599_52797062	52781204	TTTTTTTC others(6): Show TTTTTTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0202 a0003c0003t0001g0202	1	406	0.0025	-13	c.688 others(28): Show c.688-733_688-721delTTTTCTTCTTCTT	ITIH1	ENSG00000055957.11	transcript	ENST00000273283.7	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITIH1_chr3_52772599_52797062	52781207	TTTTCTTC others(6): Show TTTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19064.hp1 NA19089.hp2 HG02922.hp1 NA19064.hp1 NA19089.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0023 a0001c0001 a0008c0023	a0001c0001t0001 a0008c0023t0001 a0001c0001t0001 a0008c0023t0001	a0001c0001t0001g0138 a0001c0001t0001g0139 a0008c0023t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0008c0023t0001g0137	3	406	0.0074	-13	c.688 others(28): Show c.688-730_688-718delTCTTCTTCTTCTT	ITIH1	ENSG00000055957.11	transcript	ENST00000273283.7	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITIH1_chr3_52772599_52797062	52781210	TCTTCTTC others(6): Show TCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	406	0.0025	-13	c.688 others(28): Show c.688-729_688-717delCTTCTTCTTCTTC	ITIH1	ENSG00000055957.11	transcript	ENST00000273283.7	protein_coding	6/21			chr3	TogoVar
ITIH2_chr10_7698316_7754520	7741173	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0029 a0002c0003t0001g0029	1	380	0.0026	-13	c.209 others(32): Show c.2096-1963_2096-1951delTTTTTTTTTTTTT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7745750	ATTAATTA others(6): Show ATTAATTAATTCAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00558.hp1 others(18): Show HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG01358.hp2 HG02056.hp2 HG02074.hp2 HG02300.hp2 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp2 NA19007.hp2 NA19010.hp1 NA19054.hp2 NA19056.hp1 NA19066.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0047 others(17): Show a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0069 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0128 a0001c0001t0001g0222 a0001c0001t0001g0340 a0001c0002t0001g0297	21	380	0.0553	-13	c.258 others(30): Show c.2581+789_2581+801delTAATTAATTCATT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7752041	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02723.hp1 HG02280.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0289 a0001c0002t0001g0351 a0001c0001t0001g0289 a0001c0002t0001g0351	2	380	0.0053	-13	c.27 others(24): Show c.2708_*2720delAAAAAAAAAAAAA	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding		2522		chr10	TogoVar
ITIH5_chr10_7554270_7671966	7613245	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01167.hp2 HG01169.hp1 HG00280.hp2 HG01167.hp2 HG01169.hp1	a0001 a0002 a0001 a0002	a0001c0067 a0002c0018 a0001c0067 a0002c0018	a0001c0067t0001 a0002c0018t0001 a0001c0067t0001 a0002c0018t0001	a0001c0067t0001g0018 a0002c0018t0001g0303 a0002c0018t0001g0305 a0001c0067t0001g0018 a0002c0018t0001g0303 a0002c0018t0001g0305	3	342	0.0088	-13	c.939 others(30): Show c.939+2724_939+2736delTTTTTTTTTTTTT	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	7/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7644687	ATATATCA others(6): Show ATATATCACATATC	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02080.hp1 HG02615.hp1 others(5): Show HG02015.hp1 HG02080.hp1 HG02615.hp1 HG02922.hp2 HG02970.hp1 NA19005.hp2 NA19068.hp1 NA20300.hp1	a0000 a0001 a0003 others(1): Show a0000 a0001 a0003 a0004	a0000c0025 a0000c0063 a0001c0001 others(3): Show a0000c0025 a0000c0063 a0001c0001 a0003c0002 a0003c0005 a0004c0008	a0000c0025t0004 a0000c0063t0014 a0001c0001t0001 others(4): Show a0000c0025t0004 a0000c0063t0014 a0001c0001t0001 a0003c0002t0001 a0003c0002t0046 a0003c0005t0001 a0004c0008t0006	a0000c0025t0004g0264 a0000c0063t0014g0263 a0001c0001t0001g0257 others(5): Show a0000c0025t0004g0264 a0000c0063t0014g0263 a0001c0001t0001g0257 a0001c0001t0001g0274 a0003c0002t0001g0273 a0003c0002t0046g0272 a0003c0005t0001g0145 a0004c0008t0006g0258	8	342	0.0234	-13	c.136 others(30): Show c.136-2610_136-2598delGATATGTGATATA	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	2/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7644863	CATATATA others(6): Show CATATATATCACAT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02622.hp1 HG02965.hp1 others(2): Show HG01168.hp1 HG02622.hp1 HG02965.hp1 HG03831.hp2 NA19240.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0014 a0028	a0001c0001 a0002c0004 a0004c0008 others(2): Show a0001c0001 a0002c0004 a0004c0008 a0014c0064 a0028c0068	a0001c0001t0001 a0002c0004t0001 a0004c0008t0029 others(2): Show a0001c0001t0001 a0002c0004t0001 a0004c0008t0029 a0014c0064t0064 a0028c0068t0005	a0001c0001t0001g0262 a0002c0004t0001g0055 a0004c0008t0029g0072 others(2): Show a0001c0001t0001g0262 a0002c0004t0001g0055 a0004c0008t0029g0072 a0014c0064t0064g0054 a0028c0068t0005g0053	5	342	0.0146	-13	c.136 others(30): Show c.136-2786_136-2774delATGTGATATATAT	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	2/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7644943	TATATATA others(6): Show TATATATATCACAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp2 HG02074.hp1 others(7): Show HG00280.hp1 HG00735.hp2 HG02074.hp1 HG03492.hp1 HG03579.hp2 HG03927.hp2 HG04115.hp2 NA18747.hp2 NA19006.hp2 NA20752.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0010 a0015 a0019	a0001c0006 a0001c0032 a0002c0003 others(5): Show a0001c0006 a0001c0032 a0002c0003 a0003c0005 a0010c0050 a0015c0048 a0015c0072 a0019c0051	a0001c0006t0001 a0001c0032t0001 a0002c0003t0003 others(6): Show a0001c0006t0001 a0001c0032t0001 a0002c0003t0003 a0003c0005t0001 a0003c0005t0047 a0010c0050t0003 a0015c0048t0001 a0015c0072t0001 a0019c0051t0001	a0001c0006t0001g0057 a0001c0006t0001g0089 a0001c0032t0001g0277 others(7): Show a0001c0006t0001g0057 a0001c0006t0001g0089 a0001c0032t0001g0277 a0002c0003t0003g0070 a0003c0005t0001g0154 a0003c0005t0047g0315 a0010c0050t0003g0012 a0015c0048t0001g0056 a0015c0072t0001g0205 a0019c0051t0001g0316	10	342	0.0292	-13	c.136 others(30): Show c.136-2866_136-2854delGTGTGATATATAT	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	2/13			chr10	TogoVar
ITK_chr5_157175840_157260185	157233953	ATATATAT others(6): Show ATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0314 a0001c0001t0004g0314	1	348	0.0029	-13	c.768 others(30): Show c.768+1561_768+1573delATATATATATTTT	ITK	ENSG00000113263.14	transcript	ENST00000422843.8	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITK_chr5_157175840_157260185	157233957	ATATATAT others(6): Show ATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0064 a0001c0001t0014g0064	1	348	0.0029	-13	c.768 others(30): Show c.768+1565_768+1577delATATATTTTTTTT	ITK	ENSG00000113263.14	transcript	ENST00000422843.8	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITK_chr5_157175840_157260185	157233963	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	348	0.0029	-13	c.768 others(30): Show c.768+1592_768+1604delTTTTTTTTTTTTT	ITK	ENSG00000113263.14	transcript	ENST00000422843.8	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITM2B_chr13_48228206_48275357	48229672	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0123 a0001c0001t0038g0123	1	338	0.0030	-13	c.-36 others(24): Show c.-3688_-3676delTTTTTTTTTTTTT	ITM2B	ENSG00000136156.15	transcript	ENST00000647800.2	protein_coding		3533		chr13	TogoVar
ITM2C_chr2_230859942_230884248	230876057	CGTTGTAT others(6): Show CGTTGTATCGAGGG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG00642.hp1 others(41): Show HG00140.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00741.hp1 HG01099.hp1 HG01257.hp2 HG01261.hp2 HG02015.hp1 HG02040.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02683.hp1 HG02735.hp2 HG02818.hp1 HG02895.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03486.hp1 HG03654.hp1 HG03834.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18948.hp1 NA18961.hp1 NA18961.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA19030.hp1 NA19066.hp2 NA19240.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0002c0006 a0005c0012	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0005t0001 a0002c0002t0001 a0002c0006t0001 a0005c0012t0001	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 others(28): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0111 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0007g0060 a0001c0001t0008g0058 a0001c0005t0001g0034 a0001c0005t0001g0062 a0001c0005t0001g0147 a0002c0002t0001g0042 a0002c0002t0001g0110 a0002c0002t0001g0119 a0002c0002t0001g0123 a0002c0002t0001g0138 a0002c0006t0001g0063 a0005c0012t0001g0130	44	398	0.1106	-13	c.450 others(28): Show c.450+252_450+264delTGTATCGAGGGGT	ITM2C	ENSG00000135916.16	transcript	ENST00000326427.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
ITPK1_chr14_92931914_93120925	93000974	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG00597.hp1 others(65): Show HG00099.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01109.hp2 HG01167.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01258.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02738.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03209.hp2 HG03239.hp2 HG03490.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18954.hp2 NA18957.hp1 NA18978.hp2 NA18983.hp1 NA18984.hp2 NA19000.hp1 NA19002.hp2 NA19010.hp1 NA19030.hp1 NA19060.hp1 NA19064.hp2 NA20129.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0035 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0043 a0001c0001t0047 a0001c0001t0051 a0001c0001t0056 a0001c0001t0063 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0076 a0001c0001t0079 a0001c0001t0080 a0001c0001t0089 a0001c0002t0003 a0001c0002t0055 a0001c0002t0059 a0001c0003t0014 a0001c0003t0073 a0002c0006t0028	a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0062 others(64): Show a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0002g0031 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0004g0199 a0001c0001t0005g0070 a0001c0001t0008g0039 a0001c0001t0010g0001 a0001c0001t0010g0012 a0001c0001t0011g0044 a0001c0001t0011g0059 a0001c0001t0011g0078 a0001c0001t0011g0081 a0001c0001t0016g0069 a0001c0001t0016g0145 a0001c0001t0016g0147 a0001c0001t0019g0024 a0001c0001t0020g0037 a0001c0001t0020g0079 a0001c0001t0020g0093 a0001c0001t0022g0076 a0001c0001t0025g0082 a0001c0001t0025g0122 a0001c0001t0026g0157 a0001c0001t0026g0173 a0001c0001t0028g0192 a0001c0001t0035g0153 a0001c0001t0038g0096 a0001c0001t0039g0112 a0001c0001t0041g0099 a0001c0001t0043g0146 a0001c0001t0047g0087 a0001c0001t0051g0150 a0001c0001t0056g0182 a0001c0001t0063g0161 a0001c0001t0069g0210 a0001c0001t0070g0127 a0001c0001t0071g0238 a0001c0001t0076g0181 a0001c0001t0079g0156 a0001c0001t0080g0020 a0001c0001t0089g0027 a0001c0002t0003g0077 a0001c0002t0003g0097 a0001c0002t0055g0111 a0001c0002t0059g0148 a0001c0003t0014g0167 a0001c0003t0073g0168 a0002c0006t0028g0202	68	243	0.2798	-13	c.247 others(30): Show c.247-6990_247-6978delTTTTTTTTTTTTT	ITPK1	ENSG00000100605.17	transcript	ENST00000267615.11	protein_coding	4/10			chr14	TogoVar
ITPK1_chr14_92931914_93120925	93075326	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00639.hp2 others(32): Show HG00323.hp1 HG00544.hp1 HG00639.hp2 HG00673.hp1 HG01261.hp2 HG01515.hp1 HG01517.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02080.hp1 HG02129.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp2 HG02602.hp1 HG02615.hp1 HG02738.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03654.hp2 HG03942.hp2 HG04184.hp2 NA18906.hp1 NA18941.hp2 NA18947.hp2 NA18954.hp2 NA19060.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(18): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0022 a0001c0001t0030 a0001c0001t0040 a0001c0001t0053 a0001c0001t0063 a0001c0001t0066 a0001c0001t0075 a0001c0001t0077 a0001c0001t0078 a0001c0001t0091 a0001c0002t0001 a0001c0002t0003 a0001c0002t0015 a0001c0007t0013	a0001c0001t0002g0002 a0001c0001t0002g0035 a0001c0001t0002g0083 others(32): Show a0001c0001t0002g0002 a0001c0001t0002g0035 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0107 a0001c0001t0002g0189 a0001c0001t0002g0206 a0001c0001t0004g0065 a0001c0001t0004g0224 a0001c0001t0005g0204 a0001c0001t0006g0143 a0001c0001t0009g0151 a0001c0001t0009g0194 a0001c0001t0009g0197 a0001c0001t0009g0213 a0001c0001t0013g0019 a0001c0001t0013g0114 a0001c0001t0013g0116 a0001c0001t0014g0174 a0001c0001t0022g0076 a0001c0001t0030g0084 a0001c0001t0030g0207 a0001c0001t0040g0209 a0001c0001t0053g0007 a0001c0001t0063g0161 a0001c0001t0066g0205 a0001c0001t0075g0180 a0001c0001t0077g0013 a0001c0001t0078g0222 a0001c0001t0091g0190 a0001c0002t0001g0195 a0001c0002t0003g0137 a0001c0002t0015g0201 a0001c0002t0015g0208 a0001c0007t0013g0018	35	243	0.1440	-13	c.120 others(30): Show c.120+1256_120+1268delTTTTTTTTTTTTT	ITPK1	ENSG00000100605.17	transcript	ENST00000267615.11	protein_coding	3/10			chr14	TogoVar
ITPKB_chr1_226626690_226744282	226664438	TGTGCCGG others(6): Show TGTGCCGGGCAGTA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01074.hp1 HG01099.hp1 others(31): Show HG00558.hp2 HG01074.hp1 HG01099.hp1 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG02027.hp1 HG02071.hp2 HG02129.hp1 HG02155.hp1 HG02273.hp2 HG02300.hp1 HG04199.hp1 NA18747.hp1 NA18943.hp1 NA18950.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18969.hp2 NA18972.hp1 NA18995.hp2 NA19002.hp2 NA19007.hp1 NA19011.hp1 NA19012.hp2 NA19057.hp2 NA19065.hp1 NA19074.hp1 NA19088.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0020	a0001c0001 a0002c0002 a0003c0003 others(5): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0005c0010 a0005c0011 a0006c0006 a0020c0016	a0001c0001t0025 a0002c0002t0002 a0003c0003t0002 others(15): Show a0001c0001t0025 a0002c0002t0002 a0003c0003t0002 a0003c0003t0013 a0005c0005t0008 a0005c0005t0028 a0005c0005t0055 a0005c0005t0056 a0005c0005t0057 a0005c0005t0058 a0005c0005t0059 a0005c0005t0060 a0005c0010t0008 a0005c0011t0029 a0006c0006t0010 a0006c0006t0020 a0006c0006t0027 a0020c0016t0010	a0001c0001t0025g0282 a0002c0002t0002g0087 a0003c0003t0002g0220 others(29): Show a0001c0001t0025g0282 a0002c0002t0002g0087 a0003c0003t0002g0220 a0003c0003t0013g0192 a0005c0005t0008g0333 a0005c0005t0008g0336 a0005c0005t0008g0338 a0005c0005t0008g0340 a0005c0005t0008g0341 a0005c0005t0008g0344 a0005c0005t0008g0345 a0005c0005t0008g0346 a0005c0005t0028g0331 a0005c0005t0028g0343 a0005c0005t0055g0339 a0005c0005t0056g0337 a0005c0005t0057g0334 a0005c0005t0058g0335 a0005c0005t0059g0332 a0005c0005t0060g0342 a0005c0010t0008g0327 a0005c0010t0008g0328 a0005c0011t0029g0329 a0005c0011t0029g0330 a0006c0006t0010g0001 a0006c0006t0010g0015 a0006c0006t0010g0016 a0006c0006t0010g0018 a0006c0006t0020g0002 a0006c0006t0020g0014 a0006c0006t0027g0017 a0020c0016t0010g0012	34	350	0.0971	-13	c.193 others(34): Show c.1933-15680_1933-15668delTACTGCCCGGCAC	ITPKB	ENSG00000143772.11	transcript	ENST00000429204.6	protein_coding	2/7			chr1	TogoVar
ITPKB_chr1_226626690_226744282	226700465	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0106 a0002c0002t0001g0106	1	350	0.0029	-13	c.193 others(34): Show c.1932+35049_1932+35061delTTTTTTTTTTTTT	ITPKB	ENSG00000143772.11	transcript	ENST00000429204.6	protein_coding	2/7			chr1	TogoVar
ITPKB_chr1_226626690_226744282	226701603	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0270 a0001c0001t0003g0270	1	350	0.0029	-13	c.193 others(34): Show c.1932+33911_1932+33923delTTTTTTTTTTTTT	ITPKB	ENSG00000143772.11	transcript	ENST00000429204.6	protein_coding	2/7			chr1	TogoVar
ITPKB_chr1_226626690_226744282	226740862	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 NA18950.hp2 NA18957.hp2 HG02074.hp2 NA18950.hp2 NA18957.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0006 a0003c0003t0004 a0001c0001t0006 a0003c0003t0004	a0001c0001t0006g0324 a0003c0003t0004g0186 a0003c0003t0004g0189 a0001c0001t0006g0324 a0003c0003t0004g0186 a0003c0003t0004g0189	3	350	0.0086	-13	c.-20 others(24): Show c.-2040_-2028delTTTTTTTTTTTTT	ITPKB	ENSG00000143772.11	transcript	ENST00000429204.6	protein_coding		1581		chr1	TogoVar
ITPR1_chr3_4488348_4852506	4632929	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0041 a0001c0015t0001g0041	1	176	0.0057	-13	c.279 others(30): Show c.279+5067_279+5079delTTTTTTTTTTTTT	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	5/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR2_chr12_26330352_26838194	26391555	CCTTTTTT others(6): Show CCTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0003 a0003	a0003c0032 a0003c0032	a0003c0032t0009 a0003c0032t0009	a0003c0032t0009g0049 a0003c0032t0009g0049	1	142	0.0070	-13	c.769 others(32): Show c.7697-3974_7697-3962delAAAAAAAAAAAAG	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	54/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26491482	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03579.hp2 HG02280.hp1 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0003c0032 a0001c0005 a0003c0032	a0001c0005t0015 a0003c0032t0009 a0001c0005t0015 a0003c0032t0009	a0001c0005t0015g0051 a0003c0032t0009g0049 a0001c0005t0015g0051 a0003c0032t0009g0049	2	142	0.0141	-13	c.537 others(32): Show c.5370+2658_5370+2670delTTTTTTTTTTTTT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	39/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26589812	ATAAATAA others(6): Show ATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp1 NA19090.hp1 HG00140.hp2 HG01074.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0018 a0001c0059 a0001c0002 a0001c0018 a0001c0059	a0001c0002t0008 a0001c0018t0047 a0001c0059t0002 a0001c0002t0008 a0001c0018t0047 a0001c0059t0002	a0001c0002t0008g0100 a0001c0018t0047g0112 a0001c0059t0002g0090 a0001c0002t0008g0100 a0001c0018t0047g0112 a0001c0059t0002g0090	3	142	0.0211	-13	c.438 others(32): Show c.4380+5640_4380+5652delATTTATTTATTTA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	32/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26607514	TCAACTTC others(6): Show TCAACTTCTATGAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02970.hp2 HG03209.hp2 HG02559.hp1 HG02970.hp2 HG03209.hp2	a0002 a0012 a0002 a0012	a0002c0017 a0012c0068 a0002c0017 a0012c0068	a0002c0017t0018 a0012c0068t0004 a0002c0017t0018 a0012c0068t0004	a0002c0017t0018g0108 a0002c0017t0018g0109 a0012c0068t0004g0105 a0002c0017t0018g0108 a0002c0017t0018g0109 a0012c0068t0004g0105	3	142	0.0211	-13	c.346 others(32): Show c.3463-4821_3463-4809delGTCATAGAAGTTG	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	26/56			chr12	TogoVar
ITPR3_chr6_33616322_33701562	33686720	TACACTCA others(6): Show TACACTCACTCTGG	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0001 a0002c0023t0001	a0002c0023t0001g0287 a0002c0023t0001g0287	1	342	0.0029	-13	c.597 others(30): Show c.5979+203_5979+215delCACTCACTCTGGA	ITPR3	ENSG00000096433.11	transcript	ENST00000605930.3	protein_coding	43/57		INFO_REALIGN_3_PRIME	chr6	TogoVar
ITPRID1_chr7_31509090_31661504	31625837	TCTTTATA others(6): Show TCTTTATAAAGCTA	T T	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0275 a0002c0001t0005g0275	1	312	0.0032	-13	c.122 others(34): Show c.1229-16338_1229-16326delCTTTATAAAGCTA	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	10/14			chr7	TogoVar
ITSN2_chr2_24197864_24365536	24305576	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	224	0.0045	-13	c.794 others(30): Show c.794-1727_794-1715delTTTTTTTTTTTTT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	8/39			chr2	TogoVar
ITSN2_chr2_24197864_24365536	24320525	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(59): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00558.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01257.hp2 HG01433.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02698.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03453.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 NA18943.hp1 NA18945.hp1 NA18956.hp1 NA18956.hp2 NA18964.hp2 NA18969.hp1 NA18985.hp1 NA18989.hp2 NA18993.hp2 NA19002.hp1 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19077.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0007 a0009 a0015	a0001c0001 a0002c0003 a0002c0014 others(6): Show a0001c0001 a0002c0003 a0002c0014 a0003c0002 a0003c0024 a0005c0006 a0007c0009 a0009c0015 a0015c0020	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0002c0003t0001 a0002c0003t0006 a0002c0014t0001 a0003c0002t0001 a0003c0024t0001 a0005c0006t0001 a0007c0009t0001 a0009c0015t0001 a0015c0020t0001	a0001c0001t0001g0032 a0001c0001t0001g0047 a0001c0001t0001g0049 others(59): Show a0001c0001t0001g0032 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0109 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0008g0154 a0002c0003t0001g0196 a0002c0003t0001g0197 a0002c0003t0006g0002 a0002c0014t0001g0189 a0003c0002t0001g0035 a0003c0002t0001g0158 a0003c0002t0001g0160 a0003c0002t0001g0161 a0003c0002t0001g0162 a0003c0002t0001g0164 a0003c0002t0001g0165 a0003c0002t0001g0166 a0003c0002t0001g0167 a0003c0002t0001g0168 a0003c0002t0001g0169 a0003c0002t0001g0170 a0003c0002t0001g0171 a0003c0002t0001g0174 a0003c0002t0001g0175 a0003c0002t0001g0176 a0003c0002t0001g0178 a0003c0002t0001g0180 a0003c0002t0001g0182 a0003c0002t0001g0183 a0003c0002t0001g0184 a0003c0002t0001g0185 a0003c0002t0001g0186 a0003c0002t0001g0187 a0003c0002t0001g0188 a0003c0002t0001g0190 a0003c0002t0001g0194 a0003c0002t0001g0195 a0003c0024t0001g0179 a0005c0006t0001g0202 a0005c0006t0001g0203 a0005c0006t0001g0204 a0007c0009t0001g0163 a0009c0015t0001g0181 a0015c0020t0001g0078	62	224	0.2768	-13	c.32- others(28): Show c.32-5314_32-5302delTTTTTTTTTTTTT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	2/39			chr2	TogoVar
IVNS1ABP_chr1_185291388_185322243	185316843	CCGCTTCC others(6): Show CCGCTTCCGCGCCT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0011 a0008c0009t0011	a0008c0009t0011g0106 a0008c0009t0011g0106	1	380	0.0026	-13	c.-24 others(29): Show c.-247+97_-247+109delAGGCGCGGAAGCG	IVNS1ABP	ENSG00000116679.16	transcript	ENST00000367498.8	protein_coding	1/14			chr1	TogoVar
IYD_chr6_150364012_150410969	150367977	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01069.hp2 HG01071.hp1 others(15): Show HG00099.hp2 HG01069.hp2 HG01071.hp1 HG02486.hp1 HG02630.hp2 HG02738.hp1 HG04199.hp2 NA18954.hp1 NA18982.hp1 NA18987.hp2 NA19006.hp1 NA19055.hp2 NA19056.hp2 NA19064.hp2 NA19080.hp1 NA19080.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0004 a0005c0005 a0001c0001 a0004c0004 a0005c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0027 a0001c0001t0037 a0001c0001t0057 a0004c0004t0023 a0005c0005t0001	a0001c0001t0001g0007 a0001c0001t0003g0005 a0001c0001t0003g0164 others(12): Show a0001c0001t0001g0007 a0001c0001t0003g0005 a0001c0001t0003g0164 a0001c0001t0003g0169 a0001c0001t0003g0173 a0001c0001t0005g0037 a0001c0001t0005g0212 a0001c0001t0010g0016 a0001c0001t0010g0052 a0001c0001t0010g0300 a0001c0001t0027g0163 a0001c0001t0037g0053 a0001c0001t0057g0254 a0004c0004t0023g0303 a0005c0005t0001g0069	18	414	0.0435	-13	c.-10 others(24): Show c.-1054_-1042delTTTCTTTCTTTCT	IYD	ENSG00000009765.15	transcript	ENST00000344419.8	protein_coding		1034		chr6	TogoVar
IYD_chr6_150364012_150410969	150405233	AGACCTTC others(6): Show AGACCTTCAGCCTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0305 a0001c0001t0081g0305	1	414	0.0024	-13	c.70 others(24): Show c.7003_*7015delCAGCCTTGACCTT	IYD	ENSG00000009765.15	transcript	ENST00000344419.8	protein_coding	5/5	7003	INFO_REALIGN_3_PRIME	chr6	TogoVar
JADE2_chr5_134520670_134588227	134531883	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19088.hp1 NA19085.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0068 a0001c0001t0003 a0001c0001t0068	a0001c0001t0003g0046 a0001c0001t0068g0045 a0001c0001t0003g0046 a0001c0001t0068g0045	2	388	0.0052	-13	c.1-3 others(26): Show c.1-3957_1-3945delTTTTTTTTTTTTT	JADE2	ENSG00000043143.22	transcript	ENST00000681547.2	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
JADE2_chr5_134520670_134588227	134587504	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG02258.hp1 HG02622.hp2 others(10): Show HG01433.hp1 HG02258.hp1 HG02622.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG03453.hp1 HG03453.hp2 HG03540.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0003t0006 a0001c0003t0043	a0001c0001t0001g0191 a0001c0001t0004g0015 a0001c0001t0004g0162 others(9): Show a0001c0001t0001g0191 a0001c0001t0004g0015 a0001c0001t0004g0162 a0001c0001t0006g0032 a0001c0001t0006g0206 a0001c0001t0006g0215 a0001c0001t0010g0317 a0001c0001t0010g0334 a0001c0003t0006g0300 a0001c0003t0006g0301 a0001c0003t0006g0302 a0001c0003t0043g0164	13	388	0.0335	-13	c.81 others(24): Show c.8188_*8200delAAAAAAAAAAAAA	JADE2	ENSG00000043143.22	transcript	ENST00000681547.2	protein_coding		4278		chr5	TogoVar
JADE2_chr5_134520670_134588227	134587551	AAATAAAA others(6): Show AAATAAAAATAATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02976.hp1 HG02922.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0046 a0001c0001t0006 a0001c0001t0046	a0001c0001t0006g0011 a0001c0001t0046g0011 a0001c0001t0006g0011 a0001c0001t0046g0011	2	388	0.0052	-13	c.82 others(24): Show c.8235_*8247delAATAAAAATAATG	JADE2	ENSG00000043143.22	transcript	ENST00000681547.2	protein_coding		4325		chr5	TogoVar
JADE2_chr5_134520670_134588227	134587997	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0044 a0001c0001t0006g0044	1	388	0.0026	-13	c.86 others(24): Show c.8681_*8693delAAAAAAAAAAAAA	JADE2	ENSG00000043143.22	transcript	ENST00000681547.2	protein_coding		4771		chr5	TogoVar
JAG1_chr20_10632684_10678999	10674841	CCTCCCCG others(6): Show CCTCCCCGGCCCGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03831.hp2 HG03704.hp1 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0004 a0001c0010t0001 a0001c0002t0004 a0001c0010t0001	a0001c0002t0004g0377 a0001c0010t0001g0346 a0001c0002t0004g0377 a0001c0010t0001g0346	2	412	0.0049	-13	c.-13 others(24): Show c.-1324_-1312delTCGGGCCGGGGAG	JAG1	ENSG00000101384.12	transcript	ENST00000254958.10	protein_coding		843		chr20	TogoVar
JAK1_chr1_64828229_64971549	64844585	GAAGGCAG others(6): Show GAAGGCAGGAGATC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp2 HG01106.hp1 others(33): Show HG00323.hp2 HG00738.hp2 HG01106.hp1 HG01192.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG06807.hp1 HG06807.hp2 NA20129.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 a0001c0001 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 a0001c0006t0003 a0001c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0193 a0001c0001t0001g0266 others(33): Show a0001c0001t0001g0001 a0001c0001t0001g0193 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0293 a0001c0001t0002g0103 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0214 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0005g0184 a0001c0001t0005g0185 a0001c0001t0005g0215 a0001c0001t0007g0011 a0001c0001t0007g0012 a0001c0001t0013g0255 a0001c0001t0014g0267 a0001c0006t0003g0013 a0001c0006t0003g0014 a0001c0006t0003g0015 a0001c0006t0003g0054 a0001c0006t0003g0055 a0001c0006t0003g0056 a0001c0006t0003g0164 a0001c0006t0003g0213 a0001c0007t0001g0101	36	326	0.1104	-13	c.225 others(30): Show c.2251+156_2251+168delGATCTCCTGCCTT	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	16/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64936778	CCATAAAT others(6): Show CCATAAATGAAGAG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02723.hp2 HG02976.hp1 others(4): Show HG01891.hp2 HG02723.hp2 HG02976.hp1 HG03139.hp2 HG03579.hp1 HG06807.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0193 a0001c0001t0002g0189 a0001c0001t0002g0191 others(4): Show a0001c0001t0001g0193 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0003t0001g0187 a0001c0003t0001g0190	7	326	0.0215	-13	c.-78 others(32): Show c.-78+29542_-78+29554delCTCTTCATTTATG	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK2_chr9_4980272_5134948	5005083	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0293 a0001c0001t0003g0293	1	364	0.0028	-13	c.-25 others(32): Show c.-25-16843_-25-16831delTTTTTTTTTTTTT	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
JAK3_chr19_17819782_17852982	17827717	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02896.hp2 HG02970.hp2 others(6): Show HG02615.hp1 HG02896.hp2 HG02970.hp2 HG03041.hp1 HG03225.hp1 NA18522.hp1 NA18522.hp2 NA20129.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 a0001c0001t0067 a0003c0003t0003 a0003c0003t0037	a0001c0001t0003g0053 a0001c0001t0003g0055 a0001c0001t0003g0137 others(6): Show a0001c0001t0003g0053 a0001c0001t0003g0055 a0001c0001t0003g0137 a0001c0001t0004g0262 a0001c0001t0004g0297 a0001c0001t0017g0052 a0001c0001t0067g0308 a0003c0003t0003g0078 a0003c0003t0037g0075	9	414	0.0217	-13	c.320 others(30): Show c.3208-820_3208-808delTTTTTTTTTTTTT	JAK3	ENSG00000105639.21	transcript	ENST00000458235.7	protein_coding	23/23			chr19	TogoVar
JAK3_chr19_17819782_17852982	17828226	TTTGTTTT others(6): Show TTTGTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03130.hp1 others(7): Show HG02896.hp2 HG02897.hp1 HG03130.hp1 HG03225.hp1 HG03579.hp2 NA18522.hp1 NA18522.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0017	a0001c0001t0003g0053 a0001c0001t0003g0055 a0001c0001t0003g0137 others(7): Show a0001c0001t0003g0053 a0001c0001t0003g0055 a0001c0001t0003g0137 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0289 a0001c0001t0004g0297 a0001c0001t0004g0312 a0001c0001t0005g0363 a0001c0001t0017g0052	10	414	0.0242	-13	c.320 others(32): Show c.3208-1329_3208-1317delCAAAACAAAACAA	JAK3	ENSG00000105639.21	transcript	ENST00000458235.7	protein_coding	23/23			chr19	TogoVar
JAKMIP1_chr4_6021199_6205549	6101732	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02895.hp2 NA18906.hp2 HG00735.hp1 HG02895.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0135 a0001c0001t0001g0221 a0001c0001t0001g0052 a0001c0001t0001g0135 a0001c0001t0001g0221	3	233	0.0129	-13	c.624 others(30): Show c.624+3728_624+3740delTTTTTTTTTTTTT	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	3/20			chr4	TogoVar
JAKMIP2_chr5_147580438_147787728	147633828	TACAGGTG others(6): Show TACAGGTGCCTGCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(42): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00597.hp1 HG00609.hp1 HG00738.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01952.hp1 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02056.hp1 HG02080.hp2 HG02148.hp2 HG02165.hp2 HG02523.hp2 HG02602.hp2 HG02683.hp2 HG02735.hp1 HG03492.hp2 HG04199.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp2 NA18963.hp2 NA18980.hp1 NA18982.hp2 NA18993.hp2 NA19054.hp2 NA19060.hp1 NA19065.hp2 NA19070.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0002c0006	a0001c0001t0002 a0001c0002t0019 a0001c0002t0081 others(18): Show a0001c0001t0002 a0001c0002t0019 a0001c0002t0081 a0001c0004t0003 a0001c0004t0006 a0001c0004t0021 a0001c0004t0022 a0001c0004t0026 a0001c0004t0062 a0001c0004t0070 a0001c0004t0071 a0001c0004t0090 a0001c0007t0007 a0001c0007t0055 a0001c0007t0066 a0001c0007t0067 a0001c0007t0086 a0002c0006t0003 a0002c0006t0006 a0002c0006t0021 a0002c0006t0087	a0001c0001t0002g0107 a0001c0002t0019g0213 a0001c0002t0019g0229 others(41): Show a0001c0001t0002g0107 a0001c0002t0019g0213 a0001c0002t0019g0229 a0001c0002t0081g0212 a0001c0004t0003g0196 a0001c0004t0003g0197 a0001c0004t0003g0215 a0001c0004t0003g0227 a0001c0004t0003g0231 a0001c0004t0003g0249 a0001c0004t0006g0019 a0001c0004t0006g0052 a0001c0004t0006g0068 a0001c0004t0006g0075 a0001c0004t0006g0106 a0001c0004t0006g0142 a0001c0004t0021g0160 a0001c0004t0022g0001 a0001c0004t0026g0174 a0001c0004t0026g0181 a0001c0004t0062g0042 a0001c0004t0070g0173 a0001c0004t0071g0182 a0001c0004t0090g0199 a0001c0007t0007g0163 a0001c0007t0007g0166 a0001c0007t0007g0168 a0001c0007t0007g0169 a0001c0007t0007g0170 a0001c0007t0007g0171 a0001c0007t0055g0026 a0001c0007t0066g0074 a0001c0007t0067g0165 a0001c0007t0086g0201 a0002c0006t0003g0185 a0002c0006t0003g0194 a0002c0006t0003g0202 a0002c0006t0003g0208 a0002c0006t0003g0219 a0002c0006t0003g0221 a0002c0006t0003g0240 a0002c0006t0006g0104 a0002c0006t0021g0112 a0002c0006t0087g0226	45	250	0.1800	-13	c.167 others(32): Show c.1678-1063_1678-1051delGGCAGGCACCTGT	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	12/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147707279	CACATGCC others(6): Show CACATGCCAACTTA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01934.hp1 HG02451.hp1 others(5): Show HG01884.hp2 HG01934.hp1 HG02451.hp1 HG02818.hp2 HG02922.hp2 HG03041.hp2 HG03540.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0033 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0033 a0001c0002t0049 a0001c0002t0050 a0001c0002t0085 a0001c0003t0001	a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0002t0001g0089 others(5): Show a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0002t0001g0089 a0001c0002t0033g0088 a0001c0002t0049g0092 a0001c0002t0050g0093 a0001c0002t0085g0244 a0001c0003t0001g0091	8	250	0.0320	-13	c.-14 others(34): Show c.-148-35338_-148-35326delTAAGTTGGCATGT	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132080503	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01243.hp1 HG02965.hp1 others(2): Show HG01069.hp2 HG01243.hp1 HG02965.hp1 HG03041.hp2 HG06807.hp2	a0001 a0004 a0001 a0004	a0001c0006 a0001c0019 a0004c0030 a0001c0006 a0001c0019 a0004c0030	a0001c0006t0003 a0001c0019t0003 a0001c0019t0015 others(1): Show a0001c0006t0003 a0001c0019t0003 a0001c0019t0015 a0004c0030t0030	a0001c0006t0003g0082 a0001c0006t0003g0083 a0001c0019t0003g0081 others(2): Show a0001c0006t0003g0082 a0001c0006t0003g0083 a0001c0019t0003g0081 a0001c0019t0015g0085 a0004c0030t0030g0084	5	158	0.0317	-13	c.-13 others(34): Show c.-138+14466_-138+14478delTTTTTTTTTTTTT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132127721	GATGGGGT others(6): Show GATGGGGTTATCCC	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0024 a0001c0013t0024	a0001c0013t0024g0078 a0001c0013t0024g0078	1	158	0.0063	-13	c.634 others(30): Show c.634-5578_634-5566delCATGGGGTTATCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAM3_chr11_134064072_134157001	134133999	AAAGTAGA others(6): Show AAAGTAGATAACAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02723.hp2 HG03195.hp2 others(3): Show HG01243.hp1 HG02723.hp2 HG03195.hp2 HG03209.hp2 HG03540.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0017 a0001c0001t0024 others(1): Show a0001c0001t0006 a0001c0001t0017 a0001c0001t0024 a0001c0001t0039	a0001c0001t0006g0255 a0001c0001t0006g0257 a0001c0001t0017g0256 others(3): Show a0001c0001t0006g0255 a0001c0001t0006g0257 a0001c0001t0017g0256 a0001c0001t0024g0254 a0001c0001t0024g0357 a0001c0001t0039g0253	6	390	0.0154	-13	c.77- others(28): Show c.77-5838_77-5826delAAGTAGATAACAT	JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
JAM3_chr11_134064072_134157001	134153710	CAGATTCC others(6): Show CAGATTCCCTGAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	390	0.0026	-13	c.45 others(24): Show c.4530_*4542delAGATTCCCTGAGG	JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding		1710		chr11	TogoVar

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