Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	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
ITGAM_chr16_31254975_31337877	31272453	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0004 a0006c0010t0004	a0006c0010t0004g0018 a0006c0010t0004g0018	1	244	0.0041	-21	c.704 others(36): Show c.704+463_704+483delATATATATATTTTTTTTTTTT		ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	7/29					INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAM_chr16_31254975_31337877	31334660	CCTTCCTT others(14): Show CCTTCCTTCCTTCTTTCTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	244	0.0041	-21	c.29 others(32): Show c.2954_*2974delCTTCCTTCCTTCTTTCTTTCT		ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding					1784		chr16	TogoVar
ITGAM_chr16_31254975_31337877	31334728	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	244	0.0041	-21	c.30 others(32): Show c.3022_*3042delTTTCTTTCTTTCTTTCTTTCT		ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding					1852		chr16	TogoVar
ITGB2_chr21_44880953_44925899	44884726	AGCTGGAG others(14): Show AGCTGGAGGGGAGGTGTAGACT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(99): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01358.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp2 HG02523.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG03579.hp2 HG03669.hp2 HG03942.hp1 HG04184.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18963.hp1 NA18964.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19058.hp1 NA19060.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp2 NA19083.hp1 NA19085.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp2	a0001 a0005 a0011 a0001 a0005 a0011	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0014 a0001c0016 a0001c0019 a0005c0031 a0011c0023	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0002t0001 a0001c0004t0001 a0001c0006t0001 a0001c0007t0001 a0001c0009t0001 a0001c0010t0001 a0001c0014t0001 a0001c0016t0001 a0001c0019t0001 a0005c0031t0001 a0011c0023t0001	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0019 others(95): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0073 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0152 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0199 a0001c0001t0001g0215 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0298 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0362 a0001c0001t0001g0381 a0001c0001t0001g0382 a0001c0001t0001g0386 a0001c0001t0001g0387 a0001c0001t0001g0393 a0001c0001t0001g0394 a0001c0001t0001g0396 a0001c0001t0001g0397 a0001c0001t0001g0404 a0001c0001t0003g0026 a0001c0001t0009g0121 a0001c0002t0001g0058 a0001c0002t0001g0228 a0001c0002t0001g0401 a0001c0004t0001g0048 a0001c0004t0001g0148 a0001c0004t0001g0304 a0001c0004t0001g0340 a0001c0004t0001g0391 a0001c0006t0001g0181 a0001c0006t0001g0182 a0001c0006t0001g0276 a0001c0007t0001g0245 a0001c0007t0001g0273 a0001c0007t0001g0369 a0001c0007t0001g0385 a0001c0009t0001g0277 a0001c0010t0001g0145 a0001c0010t0001g0287 a0001c0010t0001g0379 a0001c0010t0001g0395 a0001c0014t0001g0321 a0001c0016t0001g0353 a0001c0016t0001g0399 a0001c0019t0001g0024 a0001c0019t0001g0132 a0005c0031t0001g0150 a0011c0023t0001g0308	102	444	0.2297	-21	c.16 others(32): Show c.1621_*1641delAGTCTACACCTCCCCTCCAGC		ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding					1226		chr21	TogoVar
ITGB2_chr21_44880953_44925899	44885545	TGCTGGAG others(14): Show TGCTGGAGGGGAGGTGTAGATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	444	0.0023	-21	c.80 others(30): Show c.802_*822delCATCTACACCTCCCCTCCAGC		ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding					407		chr21	TogoVar
ITGB2_chr21_44880953_44925899	44896006	TGCCTGCG others(14): Show TGCCTGCGGTGTGAGTGATCCC	T T	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0224 a0001c0007t0003g0224	1	444	0.0023	-21	c.994 others(36): Show c.994-967_994-947delGGGATCACTCACACCGCAGGC		ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding	8/15						chr21	TogoVar
ITGB2_chr21_44880953_44925899	44896111	CGCCTGTG others(14): Show CGCCTGTGGTGTGAGTACTCCT	C C	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0102 a0001c0007t0003g0102	1	444	0.0023	-21	c.994 others(38): Show c.994-1072_994-1052delAGGAGTACTCACACCACAGGC		ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding	8/15						chr21	TogoVar
ITIH1_chr3_52772599_52797062	52781205	TTTTTTCT others(14): Show TTTTTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0132 a0001c0005t0001g0132	1	406	0.0025	-21	c.688 others(36): Show c.688-732_688-712delTTTCTTCTTCTTCTTCTTCTT		ITIH1	ENSG00000055957.11	transcript	ENST00000273283.7	protein_coding	6/21					INFO_REALIGN_3_PRIME	chr3	TogoVar
ITIH1_chr3_52772599_52797062	52781208	TTTCTTCT others(14): Show TTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	406	0.0025	-21	c.688 others(36): Show c.688-674_688-654delTTCTTCTTCTTCTTCTTCTTC		ITIH1	ENSG00000055957.11	transcript	ENST00000273283.7	protein_coding	6/21					INFO_REALIGN_3_PRIME	chr3	TogoVar
ITIH2_chr10_7698316_7754520	7737825	CTATATTA others(14): Show CTATATTATATTCTATATATTA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG03453.hp2 others(1): Show HG01070.hp1 HG01071.hp1 HG03453.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0005 a0001c0001t0001g0288 a0001c0009t0001g0166 a0001c0001t0001g0005 a0001c0001t0001g0288 a0001c0009t0001g0166	4	380	0.0105	-21	c.195 others(38): Show c.1958-443_1958-423delTATTATATATTATATTCTATA		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566823	AGAGGAAG others(14): Show AGAGGAAGAGGAAGAGGAAGAG	A A	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0005 a0004c0007t0005	a0004c0007t0005g0122 a0004c0007t0005g0122	1	342	0.0029	-21	c.215 others(38): Show c.2150-437_2150-417delCTCTTCCTCTTCCTCTTCCTC		ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13						chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566826	GGAAGAGG others(14): Show GGAAGAGGAAGAGGAAGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02257.hp1 HG02258.hp2 others(5): Show HG00597.hp1 HG02257.hp1 HG02258.hp2 HG02717.hp2 HG03516.hp1 NA18954.hp1 NA18983.hp1 homoSapiens_chm13v2.hp1	a0000 a0002 a0003 a0000 a0002 a0003	a0000c0013 a0000c0014 a0002c0004 others(4): Show a0000c0013 a0000c0014 a0002c0004 a0002c0009 a0002c0021 a0003c0002 a0003c0031	a0000c0013t0038 a0000c0014t0036 a0002c0004t0003 others(5): Show a0000c0013t0038 a0000c0014t0036 a0002c0004t0003 a0002c0004t0011 a0002c0009t0010 a0002c0021t0001 a0003c0002t0002 a0003c0031t0028	a0000c0013t0038g0130 a0000c0014t0036g0211 a0002c0004t0003g0007 others(5): Show a0000c0013t0038g0130 a0000c0014t0036g0211 a0002c0004t0003g0007 a0002c0004t0011g0230 a0002c0009t0010g0024 a0002c0021t0001g0215 a0003c0002t0002g0335 a0003c0031t0028g0200	8	342	0.0234	-21	c.215 others(38): Show c.2150-440_2150-420delTTCCTCTTCCTCTTCCTCTTC		ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13						chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566832	GGAAGAGG others(14): Show GGAAGAGGAAGAGGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00741.hp2 HG01069.hp1 others(15): Show HG00609.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG02015.hp2 HG02055.hp1 HG02083.hp1 HG02451.hp1 HG02630.hp1 HG02723.hp1 HG02886.hp1 HG03486.hp2 HG03927.hp2 HG04199.hp2 NA18999.hp2 NA19007.hp2 NA19077.hp2 NA20905.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0015 a0024	a0001c0001 a0002c0003 a0002c0004 others(4): Show a0001c0001 a0002c0003 a0002c0004 a0004c0007 a0005c0010 a0015c0048 a0024c0053	a0001c0001t0001 a0001c0001t0042 a0002c0003t0001 others(8): Show a0001c0001t0001 a0001c0001t0042 a0002c0003t0001 a0002c0003t0008 a0002c0003t0012 a0002c0004t0001 a0004c0007t0027 a0004c0007t0055 a0005c0010t0001 a0015c0048t0001 a0024c0053t0012	a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0185 others(15): Show a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0203 a0001c0001t0042g0261 a0002c0003t0001g0119 a0002c0003t0001g0301 a0002c0003t0008g0148 a0002c0003t0012g0322 a0002c0004t0001g0015 a0002c0004t0001g0016 a0002c0004t0001g0174 a0002c0004t0001g0227 a0004c0007t0027g0300 a0004c0007t0055g0081 a0005c0010t0001g0247 a0015c0048t0001g0056 a0024c0053t0012g0006	18	342	0.0526	-21	c.215 others(38): Show c.2150-446_2150-426delTTCTTCTTCCTCTTCCTCTTC		ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13						chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566838	GGAAGAGG others(14): Show GGAAGAGGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02109.hp2 HG01099.hp1 HG02109.hp2	a0004 a0005 a0004 a0005	a0004c0078 a0005c0046 a0004c0078 a0005c0046	a0004c0078t0006 a0005c0046t0001 a0004c0078t0006 a0005c0046t0001	a0004c0078t0006g0011 a0005c0046t0001g0117 a0004c0078t0006g0011 a0005c0046t0001g0117	2	342	0.0059	-21	c.215 others(38): Show c.2150-452_2150-432delTTCTTCTTCTTCTTCCTCTTC		ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13						chr10	TogoVar
ITM2B_chr13_48228206_48275357	48229668	CTCTCTTT others(14): Show CTCTCTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG02630.hp1 NA19240.hp2 HG01975.hp2 HG02630.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0004 a0001c0001t0016	a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0016g0054 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0016g0054	3	338	0.0089	-21	c.-36 others(32): Show c.-3692_-3672delTCTCTTTTTTTTTTTTTTTTT		ITM2B	ENSG00000136156.15	transcript	ENST00000647800.2	protein_coding					3537		chr13	TogoVar
ITPK1_chr14_92931914_93120925	93114995	GCACCGGG others(14): Show GCACCGGGCTCGGGCCGGGGGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG01261.hp1 others(1): Show HG00099.hp2 HG00323.hp2 HG01261.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0048 others(1): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0048 a0001c0001t0052	a0001c0001t0004g0183 a0001c0001t0007g0225 a0001c0001t0048g0184 others(1): Show a0001c0001t0004g0183 a0001c0001t0007g0225 a0001c0001t0048g0184 a0001c0001t0052g0185	4	243	0.0165	-21	c.95+ others(32): Show c.95+53_95+73delACCCCCGGCCCGAGCCCGGTG		ITPK1	ENSG00000100605.17	transcript	ENST00000267615.11	protein_coding	2/10						chr14	TogoVar
ITPKC_chr19_40712112_40745860	40716922	AGGCTCCG others(14): Show AGGCTCCGTCTCGTTCCGTTCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	388	0.0026	-21	c.-21 others(30): Show c.-213_-193delGGCTCCGTCTCGTTCCGTTCC		ITPKC	ENSG00000086544.4	transcript	ENST00000263370.3	protein_coding					189		chr19	TogoVar
ITPR2_chr12_26330352_26838194	26567988	ATATATAT others(14): Show ATATATATATTATATATATTAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03516.hp2 NA18960.hp1 others(1): Show HG00741.hp1 HG03516.hp2 NA18960.hp1 NA18970.hp1	a0001 a0002 a0001 a0002	a0001c0012 a0001c0042 a0001c0045 others(1): Show a0001c0012 a0001c0042 a0001c0045 a0002c0010	a0001c0012t0005 a0001c0042t0025 a0001c0045t0001 others(1): Show a0001c0012t0005 a0001c0042t0025 a0001c0045t0001 a0002c0010t0016	a0001c0012t0005g0023 a0001c0042t0025g0001 a0001c0045t0001g0098 others(1): Show a0001c0012t0005g0023 a0001c0042t0025g0001 a0001c0045t0001g0098 a0002c0010t0016g0028	4	142	0.0282	-21	c.463 others(40): Show c.4631-6057_4631-6037delATAATATATATAATATATATA		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	34/56						chr12	TogoVar
ITPR2_chr12_26330352_26838194	26589812	ATAAATAA others(14): Show ATAAATAAATAAATAAATAAAC	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02040.hp2 HG02132.hp2 others(1): Show HG01168.hp1 HG02040.hp2 HG02132.hp2 HG02523.hp2	a0001 a0001	a0001c0004 a0001c0008 a0001c0040 a0001c0004 a0001c0008 a0001c0040	a0001c0004t0001 a0001c0004t0011 a0001c0008t0002 others(1): Show a0001c0004t0001 a0001c0004t0011 a0001c0008t0002 a0001c0040t0005	a0001c0004t0001g0018 a0001c0004t0011g0128 a0001c0008t0002g0097 others(1): Show a0001c0004t0001g0018 a0001c0004t0011g0128 a0001c0008t0002g0097 a0001c0040t0005g0019	4	142	0.0282	-21	c.438 others(40): Show c.4380+5632_4380+5652delGTTTATTTATTTATTTATTTA		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	32/56						chr12	TogoVar
ITPR2_chr12_26330352_26838194	26827266	ACGGAGAA others(14): Show ACGGAGAAAAGAACAATAAACT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00639.hp1 others(19): Show HG00140.hp2 HG00323.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG01074.hp2 HG01106.hp2 HG01192.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01981.hp1 HG02132.hp2 HG02738.hp2 HG03239.hp2 NA18747.hp1 NA18906.hp1 NA18956.hp2 NA18960.hp2 NA18964.hp1 NA19090.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(14): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0013 a0001c0015 a0001c0018 a0001c0019 a0001c0021 a0001c0024 a0001c0025 a0001c0028 a0001c0029 a0001c0031 a0001c0058 a0001c0059 a0001c0062	a0001c0001t0010 a0001c0002t0046 a0001c0004t0010 others(18): Show a0001c0001t0010 a0001c0002t0046 a0001c0004t0010 a0001c0004t0011 a0001c0004t0048 a0001c0007t0021 a0001c0013t0022 a0001c0015t0004 a0001c0018t0047 a0001c0019t0011 a0001c0021t0006 a0001c0024t0010 a0001c0024t0021 a0001c0025t0051 a0001c0028t0010 a0001c0029t0011 a0001c0029t0049 a0001c0031t0009 a0001c0058t0050 a0001c0059t0002 a0001c0062t0020	a0001c0001t0010g0127 a0001c0002t0046g0123 a0001c0004t0010g0118 others(19): Show a0001c0001t0010g0127 a0001c0002t0046g0123 a0001c0004t0010g0118 a0001c0004t0011g0128 a0001c0004t0048g0115 a0001c0007t0021g0117 a0001c0013t0022g0120 a0001c0013t0022g0129 a0001c0015t0004g0006 a0001c0018t0047g0112 a0001c0019t0011g0119 a0001c0021t0006g0033 a0001c0024t0010g0124 a0001c0024t0021g0122 a0001c0025t0051g0133 a0001c0028t0010g0125 a0001c0029t0011g0130 a0001c0029t0049g0121 a0001c0031t0009g0003 a0001c0058t0050g0116 a0001c0059t0002g0090 a0001c0062t0020g0126	22	142	0.1549	-21	c.92+ others(36): Show c.92+5403_92+5423delAGTTTATTGTTCTTTTCTCCG		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	1/56						chr12	TogoVar
ITPRID1_chr7_31509090_31661504	31599638	TTTCTTTC others(14): Show TTTCTTTCTTTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01516.hp2 HG01517.hp2 others(4): Show HG00438.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG03942.hp1 NA19082.hp1 NA19088.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0003 a0002c0004 a0007c0013 a0001c0003 a0002c0004 a0007c0013	a0001c0003t0001 a0002c0004t0001 a0007c0013t0008 a0001c0003t0001 a0002c0004t0001 a0007c0013t0008	a0001c0003t0001g0022 a0001c0003t0001g0028 a0001c0003t0001g0064 others(4): Show a0001c0003t0001g0022 a0001c0003t0001g0028 a0001c0003t0001g0064 a0001c0003t0001g0067 a0001c0003t0001g0069 a0002c0004t0001g0145 a0007c0013t0008g0258	7	312	0.0224	-21	c.122 others(42): Show c.1228+16448_1228+16468delTTCTTTCTTTTTCTTTCTTTC		ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	10/14						chr7	TogoVar
IWS1_chr2_127475812_127531489	127525088	AGTAGGGG others(14): Show AGTAGGGGGGTGGGGTAGGGGC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	338	0.0030	-21	c.34+ others(36): Show c.34+1066_34+1086delGCCCCTACCCCACCCCCCTAC		IWS1	ENSG00000163166.15	transcript	ENST00000295321.9	protein_coding	1/13						chr2	TogoVar
IYD_chr6_150364012_150410969	150367969	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00741.hp2 others(13): Show HG00323.hp2 HG00423.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01123.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02135.hp2 HG02257.hp1 HG02300.hp1 HG02451.hp2 HG02738.hp2 HG02809.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0011 a0001c0001t0015 others(5): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0015 a0001c0001t0033 a0001c0001t0084 a0001c0001t0088 a0001c0001t0089 a0002c0002t0025	a0001c0001t0001g0006 a0001c0001t0001g0071 a0001c0001t0001g0276 others(11): Show a0001c0001t0001g0006 a0001c0001t0001g0071 a0001c0001t0001g0276 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0011g0014 a0001c0001t0015g0281 a0001c0001t0015g0282 a0001c0001t0015g0283 a0001c0001t0033g0049 a0001c0001t0084g0287 a0001c0001t0088g0297 a0001c0001t0089g0054 a0002c0002t0025g0313	16	414	0.0387	-21	c.-10 others(32): Show c.-1062_-1042delTTTCTTTCTTTCTTTCTTTCT		IYD	ENSG00000009765.15	transcript	ENST00000344419.8	protein_coding					1042		chr6	TogoVar
JAG1_chr20_10632684_10678999	10669547	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02970.hp2 HG03139.hp2 HG02572.hp2 HG02970.hp2 HG03139.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0003c0026 a0001c0006 a0003c0026	a0001c0006t0002 a0003c0026t0006 a0001c0006t0002 a0003c0026t0006	a0001c0006t0002g0218 a0001c0006t0002g0220 a0003c0026t0006g0219 a0001c0006t0002g0218 a0001c0006t0002g0220 a0003c0026t0006g0219	3	412	0.0073	-21	c.387 others(38): Show c.387+3133_387+3153delTTTTTTTTTTTTTTTTTTTTT		JAG1	ENSG00000101384.12	transcript	ENST00000254958.10	protein_coding	2/25						chr20	TogoVar
JAK1_chr1_64828229_64971549	64897525	GGAGGGAG others(14): Show GGAGGGAGGAGGAGGAGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01884.hp1 HG02040.hp2 others(9): Show HG00609.hp1 HG01884.hp1 HG02040.hp2 HG02055.hp1 HG02630.hp1 HG02735.hp1 HG02922.hp2 HG03139.hp2 HG03490.hp2 NA18975.hp1 NA19083.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0006t0003	a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0001g0210 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0002g0191 a0001c0002t0001g0045 a0001c0002t0002g0052 a0001c0002t0002g0082 a0001c0003t0001g0017 a0001c0003t0001g0019 a0001c0006t0003g0013	12	326	0.0368	-21	c.-77 others(40): Show c.-77-11205_-77-11185delTCCTCCTCCTCCTCCTCCCTC		JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24						chr1	TogoVar
JAK2_chr9_4980272_5134948	5005083	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00558.hp2 others(76): Show HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01496.hp1 HG01496.hp2 HG01943.hp2 HG01981.hp1 HG02004.hp1 HG02055.hp2 HG02056.hp1 HG02083.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02280.hp2 HG02293.hp1 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02895.hp2 HG02965.hp1 HG03139.hp2 HG03490.hp2 HG03492.hp1 HG03927.hp1 HG03942.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18943.hp2 NA18949.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18961.hp1 NA18964.hp2 NA18967.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18986.hp1 NA18991.hp1 NA18999.hp1 NA19003.hp1 NA19006.hp1 NA19007.hp2 NA19010.hp2 NA19030.hp2 NA19054.hp2 NA19058.hp2 NA19060.hp1 NA19068.hp2 NA19075.hp1 NA19079.hp2 NA19083.hp2 NA19084.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0018 a0005c0013	a0001c0001t0007 a0001c0002t0001 a0001c0002t0008 others(15): Show a0001c0001t0007 a0001c0002t0001 a0001c0002t0008 a0001c0002t0010 a0001c0002t0012 a0001c0002t0018 a0001c0002t0019 a0001c0002t0025 a0001c0002t0039 a0001c0002t0057 a0001c0002t0058 a0001c0003t0008 a0001c0003t0022 a0001c0003t0035 a0001c0005t0047 a0001c0007t0004 a0001c0018t0050 a0005c0013t0003	a0001c0001t0007g0080 a0001c0002t0001g0002 a0001c0002t0001g0003 others(74): Show a0001c0001t0007g0080 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0017 a0001c0002t0001g0064 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0101 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0133 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0155 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0284 a0001c0002t0008g0268 a0001c0002t0008g0269 a0001c0002t0008g0270 a0001c0002t0008g0271 a0001c0002t0008g0285 a0001c0002t0008g0286 a0001c0002t0010g0113 a0001c0002t0012g0100 a0001c0002t0018g0098 a0001c0002t0018g0099 a0001c0002t0019g0148 a0001c0002t0019g0149 a0001c0002t0019g0150 a0001c0002t0025g0280 a0001c0002t0039g0258 a0001c0002t0057g0102 a0001c0002t0058g0267 a0001c0003t0008g0299 a0001c0003t0008g0300 a0001c0003t0022g0281 a0001c0003t0035g0279 a0001c0005t0047g0290 a0001c0007t0004g0105 a0001c0018t0050g0147 a0005c0013t0003g0189	79	364	0.2170	-21	c.-25 others(40): Show c.-25-16851_-25-16831delTTTTTTTTTTTTTTTTTTTTT		JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr9	TogoVar
JAK2_chr9_4980272_5134948	5094613	AGCCATAT others(14): Show AGCCATATTATGATTTATTTCC	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03688.hp1 HG03669.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0055 a0001c0002t0006 a0001c0002t0055	a0001c0002t0006g0012 a0001c0002t0055g0011 a0001c0002t0006g0012 a0001c0002t0055g0011	2	364	0.0055	-21	c.305 others(40): Show c.3059+3703_3059+3723delGCCATATTATGATTTATTTCC		JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	22/24						chr9	TogoVar
JAK2_chr9_4980272_5134948	5103221	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18993.hp2 NA19010.hp1 NA18951.hp1 NA18993.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0353 a0001c0001t0004g0351 a0001c0001t0004g0352 a0001c0001t0003g0353 a0001c0001t0004g0351 a0001c0001t0004g0352	3	364	0.0082	-21	c.305 others(42): Show c.3059+12324_3059+12344delAAAAAAAAAAAAAAAAAAAAA		JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	22/24					INFO_REALIGN_3_PRIME	chr9	TogoVar
JAK3_chr19_17819782_17852982	17827717	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(178): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01981.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0006 a0001c0014 others(3): Show a0001c0001 a0001c0006 a0001c0014 a0002c0002 a0003c0003 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0031 a0001c0001t0034 a0001c0001t0036 a0001c0001t0038 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0048 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0060 a0001c0001t0061 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0082 a0001c0001t0084 a0001c0001t0085 a0001c0001t0090 a0001c0001t0091 a0001c0006t0012 a0001c0014t0003 a0002c0002t0001 a0003c0003t0010 a0004c0009t0001 a0004c0009t0003	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0038 others(151): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0091 a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0181 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0002g0215 a0001c0001t0003g0013 a0001c0001t0003g0021 a0001c0001t0003g0086 a0001c0001t0003g0100 a0001c0001t0003g0103 a0001c0001t0003g0106 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0118 a0001c0001t0003g0121 a0001c0001t0003g0146 a0001c0001t0003g0168 a0001c0001t0003g0211 a0001c0001t0003g0219 a0001c0001t0004g0032 a0001c0001t0004g0278 a0001c0001t0004g0280 a0001c0001t0004g0296 a0001c0001t0004g0311 a0001c0001t0004g0338 a0001c0001t0004g0344 a0001c0001t0004g0347 a0001c0001t0004g0364 a0001c0001t0005g0033 a0001c0001t0005g0264 a0001c0001t0005g0281 a0001c0001t0005g0303 a0001c0001t0005g0339 a0001c0001t0005g0340 a0001c0001t0005g0342 a0001c0001t0005g0363 a0001c0001t0006g0006 a0001c0001t0006g0007 a0001c0001t0006g0022 a0001c0001t0006g0080 a0001c0001t0006g0147 a0001c0001t0006g0158 a0001c0001t0006g0165 a0001c0001t0006g0207 a0001c0001t0006g0235 a0001c0001t0007g0005 a0001c0001t0007g0023 a0001c0001t0007g0042 a0001c0001t0007g0252 a0001c0001t0007g0255 a0001c0001t0008g0271 a0001c0001t0009g0009 a0001c0001t0009g0274 a0001c0001t0009g0300 a0001c0001t0009g0304 a0001c0001t0009g0313 a0001c0001t0009g0315 a0001c0001t0009g0341 a0001c0001t0009g0349 a0001c0001t0010g0047 a0001c0001t0010g0049 a0001c0001t0010g0054 a0001c0001t0010g0108 a0001c0001t0010g0117 a0001c0001t0011g0183 a0001c0001t0012g0196 a0001c0001t0012g0198 a0001c0001t0013g0012 a0001c0001t0013g0062 a0001c0001t0013g0093 a0001c0001t0013g0221 a0001c0001t0013g0243 a0001c0001t0014g0043 a0001c0001t0014g0205 a0001c0001t0014g0244 a0001c0001t0015g0002 a0001c0001t0015g0299 a0001c0001t0015g0309 a0001c0001t0015g0335 a0001c0001t0015g0350 a0001c0001t0017g0104 a0001c0001t0017g0120 a0001c0001t0017g0203 a0001c0001t0019g0031 a0001c0001t0022g0160 a0001c0001t0022g0202 a0001c0001t0023g0029 a0001c0001t0023g0302 a0001c0001t0024g0107 a0001c0001t0024g0259 a0001c0001t0025g0051 a0001c0001t0027g0318 a0001c0001t0027g0329 a0001c0001t0031g0083 a0001c0001t0034g0122 a0001c0001t0036g0026 a0001c0001t0038g0256 a0001c0001t0038g0257 a0001c0001t0042g0028 a0001c0001t0043g0319 a0001c0001t0044g0182 a0001c0001t0048g0234 a0001c0001t0054g0099 a0001c0001t0056g0126 a0001c0001t0057g0231 a0001c0001t0060g0157 a0001c0001t0061g0204 a0001c0001t0078g0307 a0001c0001t0079g0322 a0001c0001t0080g0358 a0001c0001t0082g0261 a0001c0001t0084g0365 a0001c0001t0085g0343 a0001c0001t0090g0369 a0001c0001t0091g0368 a0001c0006t0012g0081 a0001c0006t0012g0082 a0001c0014t0003g0184 a0002c0002t0001g0097 a0003c0003t0010g0076 a0004c0009t0001g0216 a0004c0009t0003g0208	181	414	0.4372	-21	c.320 others(38): Show c.3208-828_3208-808delTTTTTTTTTTTTTTTTTTTTT		JAK3	ENSG00000105639.21	transcript	ENST00000458235.7	protein_coding	23/23						chr19	TogoVar
JAKMIP1_chr4_6021199_6205549	6125778	GCAGAAAC others(14): Show GCAGAAACACACACACACCATA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	233	0.0043	-21	c.-14 others(42): Show c.-147-12802_-147-12782delTATGGTGTGTGTGTGTTTCTG		JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	1/20						chr4	TogoVar
JAKMIP2_chr5_147580438_147787728	147764990	GGGAGAGA others(14): Show GGGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18522.hp1 HG01884.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0049 a0001c0002t0033 a0001c0002t0049	a0001c0002t0033g0088 a0001c0002t0049g0092 a0001c0002t0033g0088 a0001c0002t0049g0092	2	250	0.0080	-21	c.-14 others(42): Show c.-149+17445_-149+17465delTCTCTCTCTCTCTCTCTCTCC		JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21						chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132061220	CACACATA others(14): Show CACACATACACCTGCCGTGACG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG01175.hp2 HG00544.hp1 HG00544.hp2 HG01175.hp2	a0001 a0004 a0001 a0004	a0001c0013 a0004c0009 a0004c0011 a0001c0013 a0004c0009 a0004c0011	a0001c0013t0001 a0004c0009t0002 a0004c0011t0001 a0001c0013t0001 a0004c0009t0002 a0004c0011t0001	a0001c0013t0001g0129 a0004c0009t0002g0145 a0004c0011t0001g0134 a0001c0013t0001g0129 a0004c0009t0002g0145 a0004c0011t0001g0134	3	158	0.0190	-21	c.-49 others(32): Show c.-4978_-4958delACACATACACCTGCCGTGACG		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding					4725		chr10	TogoVar
JAML_chr11_118188725_118230011	118204090	CTCCAGAT others(14): Show CTCCAGATACTCAGGCTAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	374	0.0027	-21	c.535 others(36): Show c.535-446_535-426delTTTTTAGCCTGAGTATCTGGA		JAML	ENSG00000160593.20	transcript	ENST00000356289.10	protein_coding	5/9						chr11	TogoVar
JARID2_chr6_15241069_15527042	15323828	GATGCAGT others(14): Show GATGCAGTGAGCTGATCGCGCC	G G	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	284	0.0035	-21	c.46- others(38): Show c.46-50287_46-50267delTGCAGTGAGCTGATCGCGCCA		JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr6	TogoVar
JAZF1_chr7_27825577_28185795	27979366	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0180 a0001c0001t0015g0180	1	206	0.0049	-21	c.188 others(40): Show c.188+12522_188+12542delAAAAAAAAAAAAAAAAAAAAA		JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	2/4						chr7	TogoVar
JAZF1_chr7_27825577_28185795	28062543	TGTGCCCA others(14): Show TGTGCCCACCGTGATACTCCAA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02027.hp2 HG02040.hp1 others(20): Show HG01081.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03195.hp1 HG03453.hp2 HG03486.hp2 HG03579.hp1 HG03669.hp2 NA18612.hp2 NA18906.hp1 NA18941.hp1 NA18966.hp2 NA19043.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0014	a0001c0001t0001g0076 a0001c0001t0001g0091 a0001c0001t0001g0105 others(20): Show a0001c0001t0001g0076 a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0040 a0001c0001t0002g0045 a0001c0001t0011g0070 a0001c0001t0014g0042	23	206	0.1117	-21	c.116 others(40): Show c.116-70583_116-70563delTTGGAGTATCACGGTGGGCAC		JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4						chr7	TogoVar
JMJD1C_chr10_63162225_63470977	63263952	ATACACAT others(14): Show ATACACATACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0113 a0007c0006t0001g0113	1	310	0.0032	-21	c.447 others(36): Show c.447+678_447+698delGTGTGTGTGTGTGTATGTGTA		JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	3/25						chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63423300	ATCCATTA others(14): Show ATCCATTAAGCAATAACTCCTC	A A	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0253 a0006c0007t0001g0253	1	310	0.0032	-21	c.168 others(40): Show c.168+42174_168+42194delGAGGAGTTATTGCTTAATGGA		JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	1/25						chr10	TogoVar
JMJD4_chr1_227726191_227740302	227736502	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0004	1	436	0.0023	-21	c.-12 others(32): Show c.-1250_-1230delAAAAAAAAAAAAAAAAAAAAA		JMJD4	ENSG00000081692.13	transcript	ENST00000620518.5	protein_coding					1201		chr1	TogoVar
JMJD6_chr17_76713451_76731606	76717607	GGAGGCTG others(14): Show GGAGGCTGAGGTGGGGGGATCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0124 a0001c0005t0001g0124	1	440	0.0023	-21	c.11 others(32): Show c.1101_*1121delTGATCCCCCCACCTCAGCCTC		JMJD6	ENSG00000070495.15	transcript	ENST00000397625.9	protein_coding					843		chr17	TogoVar
JMY_chr5_79231131_79332211	79270441	AATATATA others(14): Show AATATATATTTACATAAATATT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03139.hp2 HG02280.hp1 HG03139.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0030 a0005c0007t0031 a0005c0007t0030 a0005c0007t0031	a0005c0007t0030g0187 a0005c0007t0031g0186 a0005c0007t0030g0187 a0005c0007t0031g0186	2	342	0.0059	-21	c.103 others(40): Show c.1033-7468_1033-7448delATATATATTTACATAAATATT		JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	1/10						chr5	TogoVar
JMY_chr5_79231131_79332211	79270516	TTAAAATA others(14): Show TTAAAATATATATTTACATAAA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0281 a0001c0001t0033g0281	1	342	0.0029	-21	c.103 others(40): Show c.1033-7391_1033-7371delAAATATATATTTACATAAATA		JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
JMY_chr5_79231131_79332211	79270566	TTAAAATG others(14): Show TTAAAATGTATATTTACATAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(126): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02071.hp2 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp2 NA18939.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18951.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18987.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA18999.hp2 NA19004.hp1 NA19030.hp1 NA19030.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19072.hp1 NA19074.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0007 a0009 others(3): Show a0001 a0007 a0009 a0010 a0013 a0015	a0001c0001 a0001c0008 a0001c0011 others(5): Show a0001c0001 a0001c0008 a0001c0011 a0007c0014 a0009c0012 a0010c0017 a0013c0018 a0015c0021	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0024 a0001c0001t0025 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0008t0018 a0001c0008t0029 a0001c0011t0016 a0007c0014t0003 a0009c0012t0003 a0010c0017t0020 a0013c0018t0042 a0015c0021t0002	a0001c0001t0002g0139 a0001c0001t0002g0217 a0001c0001t0002g0218 others(125): Show a0001c0001t0002g0139 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0224 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0245 a0001c0001t0002g0251 a0001c0001t0002g0254 a0001c0001t0002g0258 a0001c0001t0002g0261 a0001c0001t0002g0268 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0283 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0338 a0001c0001t0003g0002 a0001c0001t0003g0208 a0001c0001t0003g0210 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0246 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0271 a0001c0001t0003g0280 a0001c0001t0003g0282 a0001c0001t0003g0288 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0307 a0001c0001t0003g0312 a0001c0001t0003g0336 a0001c0001t0006g0209 a0001c0001t0006g0211 a0001c0001t0006g0212 a0001c0001t0006g0225 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0006g0228 a0001c0001t0006g0229 a0001c0001t0006g0230 a0001c0001t0006g0231 a0001c0001t0006g0232 a0001c0001t0006g0233 a0001c0001t0006g0234 a0001c0001t0006g0235 a0001c0001t0006g0248 a0001c0001t0006g0337 a0001c0001t0024g0330 a0001c0001t0025g0267 a0001c0001t0032g0339 a0001c0001t0035g0311 a0001c0001t0036g0278 a0001c0008t0018g0215 a0001c0008t0018g0216 a0001c0008t0029g0296 a0001c0011t0016g0286 a0001c0011t0016g0287 a0007c0014t0003g0269 a0007c0014t0003g0284 a0009c0012t0003g0243 a0009c0012t0003g0244 a0010c0017t0020g0041 a0010c0017t0020g0055 a0013c0018t0042g0285 a0015c0021t0002g0255	129	342	0.3772	-21	c.103 others(40): Show c.1033-7341_1033-7321delAAATGTATATTTACATAAATA		JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
JPH2_chr20_44101590_44192188	44134139	AATAAATA others(14): Show AATAAATATTTATTATAAATAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01081.hp1 HG01099.hp2 others(8): Show HG00741.hp1 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG02280.hp1 HG03942.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0007 a0001c0001t0037 a0001c0001t0048 others(2): Show a0001c0001t0007 a0001c0001t0037 a0001c0001t0048 a0001c0003t0001 a0002c0005t0004	a0001c0001t0007g0326 a0001c0001t0007g0328 a0001c0001t0037g0280 others(8): Show a0001c0001t0007g0326 a0001c0001t0007g0328 a0001c0001t0037g0280 a0001c0001t0048g0093 a0001c0003t0001g0195 a0001c0003t0001g0196 a0001c0003t0001g0198 a0001c0003t0001g0205 a0001c0003t0001g0207 a0001c0003t0001g0209 a0002c0005t0004g0206	11	338	0.0325	-21	c.117 others(42): Show c.1170-15537_1170-15517delATATTTATAATAAATATTTAT		JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5						chr20	TogoVar
JPH3_chr16_87597508_87703156	87597559	CACCATCA others(14): Show CACCATCATCATCATCACCATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0205 a0001c0001t0026g0205	1	380	0.0026	-21	c.-55 others(32): Show c.-5587_-5567delACCATCATCATCATCACCATA		JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding					4948		chr16	TogoVar
JPH3_chr16_87597508_87703156	87700663	AGAGGGCG others(14): Show AGAGGGCGGAGGGAGGAGGTTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00639.hp1 HG00733.hp1 others(66): Show HG00408.hp1 HG00639.hp1 HG00733.hp1 HG01081.hp1 HG01175.hp1 HG01256.hp1 HG01496.hp2 HG01517.hp2 HG02074.hp1 HG02129.hp1 HG02135.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG03017.hp1 HG03098.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03704.hp2 HG03834.hp2 NA18612.hp2 NA18747.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18951.hp2 NA18954.hp2 NA18960.hp2 NA18968.hp2 NA18969.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18986.hp1 NA18989.hp2 NA18997.hp1 NA19002.hp2 NA19007.hp2 NA19030.hp1 NA19043.hp2 NA19063.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19079.hp2 NA19091.hp2 NA19240.hp1 NA20752.hp2	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0006 a0009	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0037 a0004c0028 a0005c0045 a0006c0029 a0009c0026	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(21): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0001c0001t0032 a0001c0001t0038 a0001c0002t0001 a0001c0002t0013 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0004t0001 a0001c0004t0004 a0001c0006t0001 a0001c0006t0006 a0001c0009t0001 a0001c0010t0002 a0001c0011t0002 a0001c0012t0002 a0001c0037t0001 a0004c0028t0002 a0005c0045t0001 a0006c0029t0001 a0009c0026t0001	a0001c0001t0001g0004 a0001c0001t0001g0036 a0001c0001t0001g0114 others(66): Show a0001c0001t0001g0004 a0001c0001t0001g0036 a0001c0001t0001g0114 a0001c0001t0001g0188 a0001c0001t0001g0203 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0265 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0292 a0001c0001t0001g0351 a0001c0001t0004g0054 a0001c0001t0004g0066 a0001c0001t0004g0109 a0001c0001t0004g0185 a0001c0001t0004g0187 a0001c0001t0004g0189 a0001c0001t0004g0215 a0001c0001t0006g0159 a0001c0001t0014g0349 a0001c0001t0014g0350 a0001c0001t0032g0184 a0001c0001t0038g0157 a0001c0002t0001g0078 a0001c0002t0001g0081 a0001c0002t0001g0105 a0001c0002t0001g0164 a0001c0002t0001g0219 a0001c0002t0001g0235 a0001c0002t0001g0249 a0001c0002t0001g0261 a0001c0002t0001g0286 a0001c0002t0013g0079 a0001c0002t0013g0080 a0001c0003t0002g0007 a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0163 a0001c0003t0002g0166 a0001c0003t0002g0239 a0001c0003t0002g0240 a0001c0003t0004g0342 a0001c0003t0005g0019 a0001c0003t0005g0029 a0001c0003t0005g0321 a0001c0004t0001g0041 a0001c0004t0004g0285 a0001c0004t0004g0367 a0001c0006t0001g0042 a0001c0006t0001g0045 a0001c0006t0001g0085 a0001c0006t0001g0103 a0001c0006t0001g0171 a0001c0006t0006g0153 a0001c0009t0001g0062 a0001c0010t0002g0049 a0001c0011t0002g0017 a0001c0011t0002g0094 a0001c0011t0002g0234 a0001c0011t0002g0328 a0001c0011t0002g0363 a0001c0012t0002g0310 a0001c0012t0002g0360 a0001c0037t0001g0326 a0004c0028t0002g0021 a0005c0045t0001g0333 a0006c0029t0001g0220 a0009c0026t0001g0201	69	380	0.1816	-21	c.40 others(32): Show c.4004_*4024delGAGGGCGGAGGGAGGAGGTTG		JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding					2508		chr16	TogoVar
JPH3_chr16_87597508_87703156	87700839	CGGAGGGA others(14): Show CGGAGGGAGGAGGTTGGAGGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	380	0.0026	-21	c.41 others(32): Show c.4180_*4200delGGAGGGAGGAGGTTGGAGGGT		JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding					2684		chr16	TogoVar
JSRP1_chr19_2247252_2261417	2248057	TCCCCCAG others(14): Show TCCCCCAGCTCCTGGCGTCCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01346.hp1 others(7): Show HG00738.hp1 HG01069.hp1 HG01346.hp1 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02293.hp2 HG02738.hp2 HG03139.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0003c0003 a0004c0004 others(1): Show a0001c0001 a0003c0003 a0004c0004 a0005c0005	a0001c0001t0001 a0003c0003t0001 a0004c0004t0001 others(1): Show a0001c0001t0001 a0003c0003t0001 a0004c0004t0001 a0005c0005t0001	a0001c0001t0001g0001 a0003c0003t0001g0047 a0004c0004t0001g0004 others(1): Show a0001c0001t0001g0001 a0003c0003t0001g0047 a0004c0004t0001g0004 a0005c0005t0001g0017	10	436	0.0229	-21	c.42 others(32): Show c.4251_*4271delGTGGACGCCAGGAGCTGGGGG		JSRP1	ENSG00000167476.10	transcript	ENST00000300961.10	protein_coding					4194		chr19	TogoVar
JSRP1_chr19_2247252_2261417	2248165	TCCAGCCC others(14): Show TCCAGCCCCCGGGGTTCACCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	-21	c.41 others(32): Show c.4143_*4163delTGGGTGAACCCCGGGGGCTGG		JSRP1	ENSG00000167476.10	transcript	ENST00000300961.10	protein_coding					4086		chr19	TogoVar
JSRP1_chr19_2247252_2261417	2253751	GGCGCGGT others(14): Show GGCGCGGTCTGCGCCTTCTTGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02630.hp2 HG02818.hp1 HG03579.hp2 HG02630.hp2 HG02818.hp1 HG03579.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0030 a0007c0009t0001g0065 a0007c0009t0001g0030 a0007c0009t0001g0065	3	436	0.0069	-21	c.284 others(28): Show c.284_304delGCAAGAAGGCGCAGACCGCGC	p.Arg others(12): Show p.Arg95_Ala101del	JSRP1	ENSG00000167476.10	transcript	ENST00000300961.10	protein_coding	5/7	369/1138	284/996	95/331			chr19	TogoVar

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