Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ITPRIP_chr10_104304700_104343465	104309331	T T	TATATATA others(10): Show TATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG03225.hp1 NA18988.hp2 HG02970.hp2 HG03225.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0025 a0001c0001t0003 a0001c0001t0025	a0001c0001t0003g0182 a0001c0001t0003g0192 a0001c0001t0025g0188 a0001c0001t0003g0182 a0001c0001t0003g0192 a0001c0001t0025g0188	3	324	0.0093	17	c.50 others(28): Show c.5076_*5077insTATATATATATATATAT	ITPRIP	ENSG00000148841.17	transcript	ENST00000337478.3	protein_coding		368		chr10	TogoVar
ITSN1_chr21_33637501_33904861	33800889	A A	ACTGCAAC others(10): Show ACTGCAACCTCTGCCTCC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01433.hp2 HG02615.hp1 others(4): Show HG01192.hp2 HG01433.hp2 HG02615.hp1 HG02683.hp1 NA18989.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0020 a0001c0001t0051 others(2): Show a0001c0001t0001 a0001c0001t0020 a0001c0001t0051 a0001c0001t0053 a0001c0003t0005	a0001c0001t0001g0027 a0001c0001t0001g0173 a0001c0001t0020g0070 others(4): Show a0001c0001t0001g0027 a0001c0001t0001g0173 a0001c0001t0020g0070 a0001c0001t0051g0122 a0001c0001t0053g0134 a0001c0003t0005g0104 a0001c0003t0005g0121	7	242	0.0289	17	c.230 others(36): Show c.2304+1013_2304+1029dupTGCAACCTCTGCCTCCC	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	19/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN1_chr21_33637501_33904861	33877059	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp2 HG01256.hp2 others(5): Show HG00639.hp1 HG01243.hp2 HG01256.hp2 HG01261.hp2 HG01891.hp2 NA18948.hp2 NA18951.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0022 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0022 a0001c0002t0004 a0001c0002t0064 a0001c0002t0065	a0001c0001t0002g0088 a0001c0001t0002g0113 a0001c0001t0002g0142 others(5): Show a0001c0001t0002g0088 a0001c0001t0002g0113 a0001c0001t0002g0142 a0001c0001t0003g0186 a0001c0001t0022g0236 a0001c0002t0004g0114 a0001c0002t0064g0233 a0001c0002t0065g0151	8	242	0.0331	17	c.434 others(36): Show c.4341+1550_4341+1551insTTTTTTTTTTTTTTTTT	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	34/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN2_chr2_24197864_24365536	24251309	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03831.hp2 HG03688.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0161 a0002c0002t0001g0190 a0002c0002t0001g0161 a0002c0002t0001g0190	2	224	0.0089	17	c.312 others(36): Show c.3120+1035_3120+1036insTTTTTTTTTTTTTTTTT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	25/39			chr2	TogoVar
ITSN2_chr2_24197864_24365536	24251309	C C	CAAAAAAA others(10): Show CAAAAAAAAAATAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02280.hp2 HG02615.hp1 others(2): Show HG00544.hp1 HG02280.hp2 HG02615.hp1 HG02717.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0108 others(2): Show a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0108 a0001c0001t0001g0123 a0001c0001t0001g0124	5	224	0.0223	17	c.312 others(36): Show c.3120+1035_3120+1036insTTTTTTATTTTTTTTTT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	25/39			chr2	TogoVar
ITSN2_chr2_24197864_24365536	24251310	A A	AAAGAAAA others(10): Show AAAGAAAAAATAAAAAAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02647.hp1 HG06807.hp2 HG01074.hp2 HG02647.hp1 HG06807.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0004c0004t0001 a0003c0003t0001 a0004c0004t0001	a0003c0003t0001g0133 a0003c0003t0001g0142 a0004c0004t0001g0026 a0003c0003t0001g0133 a0003c0003t0001g0142 a0004c0004t0001g0026	3	224	0.0134	17	c.312 others(36): Show c.3120+1034_3120+1035insATTTTTTATTTTTTCTT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	25/39			chr2	TogoVar
ITSN2_chr2_24197864_24365536	24305576	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0198 a0012c0013t0001g0198	1	224	0.0045	17	c.794 others(34): Show c.794-1731_794-1715dupTTTTTTTTTTTTTTTTT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	8/39			chr2	TogoVar
ITSN2_chr2_24197864_24365536	24320525	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0216 a0001c0005t0002g0216	1	224	0.0045	17	c.32- others(32): Show c.32-5318_32-5302dupTTTTTTTTTTTTTTTTT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	2/39			chr2	TogoVar
ITSN2_chr2_24197864_24365536	24361740	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01123.hp2 HG02071.hp1 others(6): Show HG01081.hp2 HG01123.hp2 HG02071.hp1 HG02080.hp1 HG02280.hp1 HG02630.hp1 HG03942.hp1 NA18972.hp1 NA19057.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0004 a0004c0004t0001 a0004c0004t0004	a0004c0004t0001g0005 a0004c0004t0001g0006 a0004c0004t0001g0010 others(6): Show a0004c0004t0001g0005 a0004c0004t0001g0006 a0004c0004t0001g0010 a0004c0004t0001g0012 a0004c0004t0001g0019 a0004c0004t0001g0024 a0004c0004t0001g0028 a0004c0004t0001g0029 a0004c0004t0004g0008	9	224	0.0402	17	c.-14 others(28): Show c.-1471_-1470insTTTTTTTTTTTTTTTTT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding		1205		chr2	TogoVar
IVD_chr15_40400795_40426308	40422585	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG01106.hp2 HG02257.hp2 others(5): Show HG00597.hp1 HG01106.hp2 HG02257.hp2 HG02258.hp2 HG02300.hp1 HG02683.hp1 NA18963.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0012 others(3): Show a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0085 a0001c0001t0002g0110	8	378	0.0212	17	c.43 others(28): Show c.4322_*4323insTTTTTTTTTTTTTTTTT	IVD	ENSG00000128928.10	transcript	ENST00000487418.8	protein_coding		1278		chr15	TogoVar
IWS1_chr2_127475812_127531489	127503701	T T	TAAATAAA others(10): Show TAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03098.hp1 HG03453.hp1 HG02970.hp2 HG03098.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0029 a0002c0002t0001g0172 a0002c0002t0001g0029 a0002c0002t0001g0172	3	338	0.0089	17	c.122 others(34): Show c.1220-126_1220-125insTATTTATTTATTTATTT	IWS1	ENSG00000163166.15	transcript	ENST00000295321.9	protein_coding	3/13			chr2	TogoVar
IZUMO2_chr19_50147548_50168281	50163345	G G	GAGAAAGT others(10): Show GAGAAAGTCAAGAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	394	0.0025	17	c.-15 others(26): Show c.-152_-151insGTTTTTCTTGACTTTCT	IZUMO2	ENSG00000161652.13	transcript	ENST00000293405.8	protein_coding		65		chr19	TogoVar
JADE1_chr4_128804700_128880224	128815120	G G	GCTCCCTG others(10): Show GCTCCCTGTAAGCTCCGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00423.hp1 others(162): Show HG00140.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02723.hp1 HG02818.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18945.hp2 NA18952.hp1 NA18956.hp1 NA18961.hp2 NA18967.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18985.hp1 NA18997.hp2 NA18998.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19067.hp1 NA19076.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19087.hp1 NA19089.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0008 a0004c0004 a0001c0001 a0001c0008 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0008t0002 a0004c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(136): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0052 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0150 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0020 a0001c0001t0003g0024 a0001c0001t0003g0035 a0001c0001t0003g0075 a0001c0001t0003g0129 a0001c0001t0003g0139 a0001c0001t0003g0163 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0198 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0216 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0231 a0001c0001t0004g0006 a0001c0001t0004g0013 a0001c0001t0004g0032 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0006g0133 a0001c0001t0006g0136 a0001c0001t0006g0137 a0001c0001t0007g0005 a0001c0001t0007g0009 a0001c0001t0007g0015 a0001c0001t0007g0200 a0001c0001t0007g0227 a0001c0001t0008g0012 a0001c0001t0008g0023 a0001c0001t0008g0029 a0001c0001t0008g0030 a0001c0001t0010g0025 a0001c0001t0010g0026 a0001c0001t0012g0051 a0001c0001t0013g0170 a0001c0001t0013g0187 a0001c0001t0016g0074 a0001c0001t0016g0175 a0001c0001t0017g0006 a0001c0001t0017g0048 a0001c0001t0019g0020 a0001c0001t0022g0141 a0001c0001t0029g0031 a0001c0001t0031g0009 a0001c0001t0032g0045 a0001c0001t0033g0012 a0001c0001t0034g0156 a0001c0001t0035g0072 a0001c0001t0036g0134 a0001c0001t0037g0135 a0001c0008t0002g0066 a0004c0004t0001g0174 a0004c0004t0001g0178 a0004c0004t0001g0217	165	278	0.5935	17	c.-27 others(34): Show c.-27+5298_-27+5314dupCCTGTAAGCTCCGCCTC	JADE1	ENSG00000077684.16	transcript	ENST00000226319.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
JADE1_chr4_128804700_128880224	128815135	C C	CGCCTCCC others(10): Show CGCCTCCCTGTAAGCTCT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	278	0.0036	17	c.-27 others(34): Show c.-27+5274_-27+5275insTGCCTCCCTGTAAGCTC	JADE1	ENSG00000077684.16	transcript	ENST00000226319.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
JADE3_chrX_46907421_47066242	46923393	C C	CTCTCTCT others(10): Show CTCTCTCTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02109.hp1 HG01358.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0133 a0001c0001t0004g0201 a0001c0001t0003g0133 a0001c0001t0004g0201	2	258	0.0078	17	c.-12 others(36): Show c.-12+10675_-12+10676insCTCTCTTTTTTTTTTTT	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
JADE3_chrX_46907421_47066242	46923393	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	258	0.0039	17	c.-12 others(36): Show c.-12+10686_-12+10702dupTTTTTTTTTTTTTTTTT	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
JAG1_chr20_10632684_10678999	10669547	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0025 a0001c0030t0025	a0001c0030t0025g0174 a0001c0030t0025g0174	1	412	0.0024	17	c.387 others(34): Show c.387+3137_387+3153dupTTTTTTTTTTTTTTTTT	JAG1	ENSG00000101384.12	transcript	ENST00000254958.10	protein_coding	2/25			chr20	TogoVar
JAK1_chr1_64828229_64971549	64913710	A A	AGGAAGGA others(10): Show AGGAAGGAAGGAAAGAAG	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0233 a0001c0003t0001g0233	1	326	0.0031	17	c.-77 others(36): Show c.-77-27370_-77-27369insCTTCTTTCCTTCCTTCC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64970134	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA19077.hp1 NA18949.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0163 a0001c0001t0001g0165	2	326	0.0061	17	c.-38 others(28): Show c.-3896_-3880dupTTTTTTTTTTTTTTTTT	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding		3586		chr1	TogoVar
JAK2_chr9_4980272_5134948	5087472	T T	TCGCTGGT others(10): Show TCGCTGGTAGTTCTTTTA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0057 a0001c0002t0057	a0001c0002t0057g0102 a0001c0002t0057g0102	1	364	0.0028	17	c.257 others(36): Show c.2572-2201_2572-2200insGCTGGTAGTTCTTTTAC	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
JAK2_chr9_4980272_5134948	5087474	A A	ACTGGTAG others(10): Show ACTGGTAGTTCTTTTACT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp2 others(259): Show HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18978.hp2 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0010 a0001c0014 a0001c0017 a0001c0018 a0001c0019 a0002c0006 a0003c0020 a0004c0011 a0005c0012 a0006c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(68): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0020 a0001c0001t0036 a0001c0001t0041 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0010 a0001c0002t0012 a0001c0002t0014 a0001c0002t0015 a0001c0002t0016 a0001c0002t0018 a0001c0002t0019 a0001c0002t0023 a0001c0002t0025 a0001c0002t0029 a0001c0002t0033 a0001c0002t0034 a0001c0002t0039 a0001c0002t0042 a0001c0002t0049 a0001c0002t0055 a0001c0002t0058 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0008 a0001c0003t0011 a0001c0003t0013 a0001c0003t0021 a0001c0003t0022 a0001c0003t0026 a0001c0003t0027 a0001c0003t0028 a0001c0003t0030 a0001c0003t0035 a0001c0003t0044 a0001c0003t0045 a0001c0003t0051 a0001c0003t0054 a0001c0003t0056 a0001c0003t0059 a0001c0003t0060 a0001c0004t0006 a0001c0004t0031 a0001c0004t0052 a0001c0004t0053 a0001c0005t0016 a0001c0005t0046 a0001c0005t0047 a0001c0005t0048 a0001c0008t0003 a0001c0009t0024 a0001c0010t0006 a0001c0014t0009 a0001c0017t0011 a0001c0018t0050 a0001c0019t0001 a0002c0006t0003 a0003c0020t0025 a0004c0011t0001 a0005c0012t0003 a0006c0013t0003	a0001c0001t0002g0196 a0001c0001t0002g0218 a0001c0001t0002g0231 others(255): Show a0001c0001t0002g0196 a0001c0001t0002g0218 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0244 a0001c0001t0003g0167 a0001c0001t0003g0170 a0001c0001t0003g0293 a0001c0001t0005g0086 a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0001t0007g0072 a0001c0001t0007g0073 a0001c0001t0007g0074 a0001c0001t0007g0075 a0001c0001t0007g0076 a0001c0001t0007g0078 a0001c0001t0007g0080 a0001c0001t0007g0195 a0001c0001t0007g0216 a0001c0001t0007g0217 a0001c0001t0010g0065 a0001c0001t0010g0066 a0001c0001t0010g0067 a0001c0001t0020g0081 a0001c0001t0036g0079 a0001c0001t0041g0082 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0064 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0101 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0127 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0155 a0001c0002t0001g0157 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0284 a0001c0002t0003g0026 a0001c0002t0003g0034 a0001c0002t0005g0283 a0001c0002t0005g0287 a0001c0002t0006g0012 a0001c0002t0008g0268 a0001c0002t0008g0269 a0001c0002t0008g0270 a0001c0002t0008g0271 a0001c0002t0008g0285 a0001c0002t0008g0286 a0001c0002t0010g0113 a0001c0002t0010g0126 a0001c0002t0010g0272 a0001c0002t0012g0008 a0001c0002t0012g0009 a0001c0002t0012g0010 a0001c0002t0012g0100 a0001c0002t0012g0359 a0001c0002t0014g0001 a0001c0002t0014g0014 a0001c0002t0014g0015 a0001c0002t0015g0260 a0001c0002t0015g0261 a0001c0002t0015g0262 a0001c0002t0016g0282 a0001c0002t0018g0098 a0001c0002t0018g0099 a0001c0002t0018g0360 a0001c0002t0019g0148 a0001c0002t0019g0149 a0001c0002t0019g0150 a0001c0002t0023g0055 a0001c0002t0023g0358 a0001c0002t0025g0280 a0001c0002t0029g0288 a0001c0002t0029g0289 a0001c0002t0033g0129 a0001c0002t0034g0128 a0001c0002t0039g0258 a0001c0002t0042g0022 a0001c0002t0049g0292 a0001c0002t0055g0011 a0001c0002t0058g0267 a0001c0003t0001g0092 a0001c0003t0001g0181 a0001c0003t0003g0004 a0001c0003t0003g0032 a0001c0003t0003g0033 a0001c0003t0003g0052 a0001c0003t0003g0056 a0001c0003t0003g0156 a0001c0003t0003g0188 a0001c0003t0003g0295 a0001c0003t0003g0296 a0001c0003t0003g0297 a0001c0003t0003g0298 a0001c0003t0003g0302 a0001c0003t0003g0305 a0001c0003t0003g0306 a0001c0003t0003g0309 a0001c0003t0003g0310 a0001c0003t0003g0311 a0001c0003t0003g0312 a0001c0003t0003g0313 a0001c0003t0003g0315 a0001c0003t0003g0316 a0001c0003t0003g0317 a0001c0003t0003g0318 a0001c0003t0003g0319 a0001c0003t0003g0321 a0001c0003t0003g0323 a0001c0003t0003g0324 a0001c0003t0003g0325 a0001c0003t0003g0327 a0001c0003t0003g0329 a0001c0003t0003g0330 a0001c0003t0003g0331 a0001c0003t0003g0332 a0001c0003t0003g0333 a0001c0003t0003g0336 a0001c0003t0003g0337 a0001c0003t0003g0338 a0001c0003t0003g0347 a0001c0003t0003g0349 a0001c0003t0003g0354 a0001c0003t0003g0356 a0001c0003t0004g0050 a0001c0003t0004g0058 a0001c0003t0004g0059 a0001c0003t0004g0307 a0001c0003t0004g0334 a0001c0003t0004g0350 a0001c0003t0005g0060 a0001c0003t0005g0194 a0001c0003t0005g0340 a0001c0003t0005g0346 a0001c0003t0008g0299 a0001c0003t0008g0300 a0001c0003t0011g0061 a0001c0003t0011g0062 a0001c0003t0011g0322 a0001c0003t0013g0029 a0001c0003t0013g0030 a0001c0003t0013g0031 a0001c0003t0013g0051 a0001c0003t0013g0054 a0001c0003t0021g0024 a0001c0003t0021g0025 a0001c0003t0022g0193 a0001c0003t0022g0281 a0001c0003t0026g0020 a0001c0003t0026g0021 a0001c0003t0027g0335 a0001c0003t0027g0344 a0001c0003t0028g0314 a0001c0003t0028g0355 a0001c0003t0030g0207 a0001c0003t0030g0208 a0001c0003t0035g0279 a0001c0003t0044g0053 a0001c0003t0045g0023 a0001c0003t0051g0206 a0001c0003t0054g0028 a0001c0003t0056g0027 a0001c0003t0059g0348 a0001c0003t0060g0007 a0001c0004t0006g0006 a0001c0004t0006g0036 a0001c0004t0006g0037 a0001c0004t0006g0038 a0001c0004t0006g0039 a0001c0004t0006g0040 a0001c0004t0006g0041 a0001c0004t0006g0045 a0001c0004t0006g0046 a0001c0004t0006g0048 a0001c0004t0006g0049 a0001c0004t0006g0057 a0001c0004t0031g0042 a0001c0004t0031g0043 a0001c0004t0052g0044 a0001c0004t0053g0047 a0001c0005t0016g0303 a0001c0005t0016g0304 a0001c0005t0046g0294 a0001c0005t0047g0290 a0001c0005t0048g0291 a0001c0008t0003g0328 a0001c0008t0003g0339 a0001c0009t0024g0190 a0001c0009t0024g0259 a0001c0010t0006g0013 a0001c0010t0006g0016 a0001c0014t0009g0250 a0001c0017t0011g0326 a0001c0018t0050g0147 a0001c0019t0001g0132 a0002c0006t0003g0308 a0002c0006t0003g0341 a0002c0006t0003g0342 a0002c0006t0003g0343 a0003c0020t0025g0123 a0004c0011t0001g0091 a0005c0012t0003g0035 a0006c0013t0003g0189	262	364	0.7198	17	c.257 others(36): Show c.2572-2198_2572-2197insGGTAGTTCTTTTACTCT	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
JAKMIP1_chr4_6021199_6205549	6169603	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	233	0.0043	17	c.-14 others(38): Show c.-148+30649_-148+30650insCACACACACACACACAC	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	1/20			chr4	TogoVar
JAKMIP2_chr5_147580438_147787728	147637437	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03688.hp1 NA18949.hp2 others(8): Show HG01496.hp2 HG03688.hp1 NA18949.hp2 NA18967.hp2 NA18972.hp1 NA18988.hp1 NA18989.hp2 NA19004.hp2 NA19011.hp1 NA19083.hp1 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0005 a0001c0002t0008 a0001c0002t0023 others(3): Show a0001c0002t0005 a0001c0002t0008 a0001c0002t0023 a0001c0002t0060 a0001c0002t0088 a0001c0010t0065	a0001c0002t0005g0203 a0001c0002t0005g0217 a0001c0002t0005g0218 others(8): Show a0001c0002t0005g0203 a0001c0002t0005g0217 a0001c0002t0005g0218 a0001c0002t0005g0233 a0001c0002t0008g0236 a0001c0002t0008g0238 a0001c0002t0008g0242 a0001c0002t0023g0023 a0001c0002t0060g0122 a0001c0002t0088g0241 a0001c0010t0065g0083	11	250	0.0440	17	c.153 others(34): Show c.1531-406_1531-390dupAAAAAAAAAAAAAAAAA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	10/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132105832	G G	GCCCTAGT others(10): Show GCCCTAGTTCTCTCCCTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00642.hp2 others(37): Show HG00423.hp1 HG00544.hp1 HG00642.hp2 HG01069.hp2 HG01243.hp1 HG01256.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03927.hp1 HG06807.hp2 NA18944.hp1 NA18952.hp1 NA18954.hp2 NA18966.hp1 NA18971.hp2 NA18983.hp2 NA19004.hp1 NA19081.hp2 NA19088.hp1 NA19091.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0006 a0001c0019 a0001c0022 others(11): Show a0001c0006 a0001c0019 a0001c0022 a0001c0032 a0002c0010 a0002c0023 a0003c0003 a0003c0020 a0004c0007 a0004c0009 a0004c0014 a0004c0027 a0004c0028 a0004c0030	a0001c0006t0003 a0001c0006t0017 a0001c0006t0025 others(23): Show a0001c0006t0003 a0001c0006t0017 a0001c0006t0025 a0001c0006t0035 a0001c0019t0001 a0001c0019t0003 a0001c0019t0015 a0001c0022t0002 a0001c0032t0037 a0002c0010t0002 a0002c0023t0001 a0002c0023t0003 a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 a0003c0003t0012 a0003c0020t0003 a0004c0007t0012 a0004c0009t0002 a0004c0009t0010 a0004c0014t0001 a0004c0014t0013 a0004c0014t0031 a0004c0027t0001 a0004c0028t0002 a0004c0030t0030	a0001c0006t0003g0082 a0001c0006t0003g0083 a0001c0006t0003g0149 others(37): Show a0001c0006t0003g0082 a0001c0006t0003g0083 a0001c0006t0003g0149 a0001c0006t0017g0154 a0001c0006t0025g0153 a0001c0006t0035g0057 a0001c0019t0001g0152 a0001c0019t0003g0081 a0001c0019t0015g0085 a0001c0022t0002g0062 a0001c0022t0002g0080 a0001c0032t0037g0124 a0002c0010t0002g0157 a0002c0010t0002g0158 a0002c0023t0001g0058 a0002c0023t0003g0073 a0003c0003t0001g0064 a0003c0003t0001g0071 a0003c0003t0001g0076 a0003c0003t0001g0077 a0003c0003t0001g0131 a0003c0003t0002g0056 a0003c0003t0005g0072 a0003c0003t0012g0063 a0003c0020t0003g0068 a0003c0020t0003g0069 a0003c0020t0003g0070 a0004c0007t0012g0067 a0004c0009t0002g0054 a0004c0009t0002g0059 a0004c0009t0002g0075 a0004c0009t0002g0145 a0004c0009t0010g0055 a0004c0014t0001g0041 a0004c0014t0001g0074 a0004c0014t0013g0147 a0004c0014t0031g0150 a0004c0027t0001g0066 a0004c0028t0002g0065 a0004c0030t0030g0084	40	158	0.2532	17	c.135 others(32): Show c.135+892_135+908dupCTAGTTCTCTCCCTCCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132167122	T T	TGCCCTGC others(10): Show TGCCCTGCCAGGGAGTTG	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0010 a0004c0009t0010	a0004c0009t0010g0055 a0004c0009t0010g0055	1	158	0.0063	17	c.22 others(30): Show c.22+68_*22+84dupGCCCTGCCAGGGAGTTG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0285 a0001c0001t0002g0285	1	328	0.0031	17	c.67+ others(34): Show c.67+20895_67+20896insATATATATATATATATT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0220 a0001c0001t0010g0220	1	328	0.0031	17	c.67+ others(34): Show c.67+20895_67+20896insATATATATATATATTTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0219 a0001c0001t0010g0221 a0001c0001t0010g0219 a0001c0001t0010g0221	2	328	0.0061	17	c.67+ others(34): Show c.67+20895_67+20896insATATATATATATTTTTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAZF1_chr7_27825577_28185795	27898318	T T	TATATATA others(10): Show TATATATACACACATCGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	206	0.0049	17	c.189 others(34): Show c.189-2903_189-2902insCCGATGTGTGTATATAT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	2/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	27898318	T T	TATATATA others(10): Show TATATATATACACATCGG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03139.hp2 HG06807.hp1 HG02559.hp2 HG03139.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0108 a0001c0001t0001g0174 a0001c0001t0002g0044 a0001c0001t0001g0108 a0001c0001t0001g0174 a0001c0001t0002g0044	3	206	0.0146	17	c.189 others(34): Show c.189-2903_189-2902insCCGATGTGTATATATAT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	2/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	28035313	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0027 a0001c0001t0009g0027	1	206	0.0049	17	c.116 others(36): Show c.116-43349_116-43333dupTTTTTTTTTTTTTTTTT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	28120501	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01934.hp1 HG02040.hp1 others(7): Show HG00735.hp1 HG01934.hp1 HG02040.hp1 HG02165.hp1 HG02293.hp2 HG03669.hp2 NA18522.hp2 NA18953.hp1 NA18998.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 others(7): Show a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0158 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0057	10	206	0.0485	17	c.115 others(36): Show c.115+59945_115+59961dupAAAAAAAAAAAAAAAAA	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
JHY_chr11_122877759_122968862	122922809	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	332	0.0030	17	c.865 others(34): Show c.865-2077_865-2061dupAAAAAAAAAAAAAAAAA	JHY	ENSG00000109944.11	transcript	ENST00000227349.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
JMJD1C_chr10_63162225_63470977	63234493	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	310	0.0032	17	c.448 others(36): Show c.448-14527_448-14511dupTTTTTTTTTTTTTTTTT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	3/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63292144	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp1 others(33): Show HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00735.hp2 HG01099.hp1 HG01123.hp1 HG01358.hp2 HG01884.hp2 HG01934.hp1 HG02015.hp2 HG02027.hp2 HG02647.hp1 HG03130.hp2 HG04184.hp2 NA18957.hp1 NA18959.hp2 NA18967.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18975.hp2 NA18980.hp1 NA18992.hp2 NA18993.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp2 NA19004.hp1 NA19054.hp1 NA19060.hp2 NA19077.hp2 NA19085.hp1 NA19088.hp2 NA19090.hp2 NA20300.hp1 NA20905.hp1	a0002 a0007 a0021 a0002 a0007 a0021	a0002c0002 a0002c0021 a0007c0007 others(1): Show a0002c0002 a0002c0021 a0007c0007 a0021c0020	a0002c0002t0001 a0002c0002t0003 a0002c0021t0001 others(2): Show a0002c0002t0001 a0002c0002t0003 a0002c0021t0001 a0007c0007t0001 a0021c0020t0001	a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0163 others(33): Show a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0163 a0002c0002t0001g0209 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0218 a0002c0002t0001g0221 a0002c0002t0001g0223 a0002c0002t0001g0226 a0002c0002t0001g0228 a0002c0002t0001g0231 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0252 a0002c0002t0001g0259 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0268 a0002c0002t0001g0273 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0284 a0002c0002t0001g0288 a0002c0002t0003g0229 a0002c0021t0001g0280 a0007c0007t0001g0235 a0007c0007t0001g0253 a0007c0007t0001g0255 a0007c0007t0001g0256 a0007c0007t0001g0257 a0021c0020t0001g0272	36	310	0.1161	17	c.334 others(36): Show c.334-27397_334-27381dupAAAAAAAAAAAAAAAAA	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63387628	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0130 a0005c0005t0001g0130	1	310	0.0032	17	c.169 others(34): Show c.169-7147_169-7146insAAAAAAAAAAAAAAAAA	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	1/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63387629	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0031 a0001c0016t0001g0031	1	310	0.0032	17	c.169 others(34): Show c.169-7164_169-7148dupAAAAAAAAAAAAAAAAA	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	1/25			chr10	TogoVar
JPH2_chr20_44101590_44192188	44133993	A A	ATATATAA others(10): Show ATATATAAATATATATTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03225.hp1 HG02896.hp2 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0023 a0001c0004t0008g0091 a0001c0004t0008g0023 a0001c0004t0008g0091	2	338	0.0059	17	c.117 others(38): Show c.1170-15371_1170-15370insAAATATATATTTATATA	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44134018	A A	ATATATAA others(10): Show ATATATAAATATATATTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0077 a0001c0004t0008g0077	1	338	0.0030	17	c.117 others(38): Show c.1170-15396_1170-15395insAAATATATATTTATATA	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44134161	A A	AATAAATA others(10): Show AATAAATATTATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0043 a0001c0006t0043	a0001c0006t0043g0048 a0001c0006t0043g0048	1	338	0.0030	17	c.117 others(38): Show c.1170-15539_1170-15538insATATATATAATATTTAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44134726	T T	TTATTATA others(10): Show TTATTATAAATATATAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0091 a0002c0021t0091	a0002c0021t0091g0251 a0002c0021t0091g0251	1	338	0.0030	17	c.117 others(38): Show c.1170-16120_1170-16104dupTTTATATATTTATAATA	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44134742	A A	AATATTTA others(10): Show AATATTTATTATAAATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00544.hp1 others(114): Show HG00140.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01167.hp1 HG01192.hp1 HG01192.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01884.hp2 HG01975.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02735.hp1 HG02809.hp1 HG02896.hp1 HG02922.hp1 HG02976.hp2 HG03017.hp2 HG03209.hp2 HG03471.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18975.hp2 NA18978.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19003.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp2 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19084.hp1 NA19091.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0008 others(3): Show a0001 a0002 a0008 a0009 a0010 a0011	a0001c0001 a0001c0003 a0001c0006 others(13): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0012 a0001c0015 a0002c0002 a0002c0005 a0002c0009 a0002c0010 a0002c0018 a0002c0030 a0008c0026 a0009c0024 a0010c0023 a0011c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(62): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0063 a0001c0001t0078 a0001c0003t0040 a0001c0006t0011 a0001c0006t0021 a0001c0006t0032 a0001c0006t0043 a0001c0006t0056 a0001c0006t0087 a0001c0006t0088 a0001c0006t0105 a0001c0006t0106 a0001c0007t0075 a0001c0012t0021 a0001c0012t0032 a0001c0015t0029 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0010 a0002c0002t0013 a0002c0002t0015 a0002c0002t0018 a0002c0002t0020 a0002c0002t0025 a0002c0002t0027 a0002c0002t0031 a0002c0002t0033 a0002c0002t0042 a0002c0002t0059 a0002c0002t0064 a0002c0002t0065 a0002c0002t0066 a0002c0002t0067 a0002c0002t0080 a0002c0002t0081 a0002c0002t0082 a0002c0002t0084 a0002c0002t0085 a0002c0002t0086 a0002c0002t0101 a0002c0002t0104 a0002c0005t0004 a0002c0005t0010 a0002c0005t0025 a0002c0005t0031 a0002c0005t0039 a0002c0005t0054 a0002c0005t0100 a0002c0009t0024 a0002c0009t0029 a0002c0009t0074 a0002c0010t0016 a0002c0018t0010 a0002c0030t0045 a0008c0026t0012 a0009c0024t0031 a0010c0023t0013 a0011c0022t0060	a0001c0001t0001g0236 a0001c0001t0001g0267 a0001c0001t0001g0286 others(114): Show a0001c0001t0001g0236 a0001c0001t0001g0267 a0001c0001t0001g0286 a0001c0001t0002g0064 a0001c0001t0003g0057 a0001c0001t0007g0297 a0001c0001t0007g0298 a0001c0001t0009g0114 a0001c0001t0012g0150 a0001c0001t0063g0116 a0001c0001t0078g0159 a0001c0003t0040g0004 a0001c0006t0011g0149 a0001c0006t0011g0160 a0001c0006t0011g0161 a0001c0006t0011g0168 a0001c0006t0011g0169 a0001c0006t0011g0170 a0001c0006t0021g0228 a0001c0006t0021g0235 a0001c0006t0021g0256 a0001c0006t0032g0306 a0001c0006t0032g0311 a0001c0006t0043g0048 a0001c0006t0056g0097 a0001c0006t0087g0222 a0001c0006t0088g0223 a0001c0006t0105g0313 a0001c0006t0106g0322 a0001c0007t0075g0180 a0001c0012t0021g0218 a0001c0012t0032g0293 a0001c0015t0029g0270 a0002c0002t0003g0024 a0002c0002t0003g0026 a0002c0002t0003g0029 a0002c0002t0003g0032 a0002c0002t0003g0066 a0002c0002t0003g0067 a0002c0002t0004g0231 a0002c0002t0004g0234 a0002c0002t0004g0237 a0002c0002t0006g0146 a0002c0002t0006g0153 a0002c0002t0006g0155 a0002c0002t0006g0156 a0002c0002t0006g0157 a0002c0002t0006g0166 a0002c0002t0006g0171 a0002c0002t0006g0172 a0002c0002t0010g0031 a0002c0002t0013g0139 a0002c0002t0013g0140 a0002c0002t0013g0141 a0002c0002t0013g0144 a0002c0002t0013g0147 a0002c0002t0015g0107 a0002c0002t0015g0121 a0002c0002t0015g0130 a0002c0002t0015g0131 a0002c0002t0018g0106 a0002c0002t0018g0108 a0002c0002t0018g0112 a0002c0002t0018g0124 a0002c0002t0020g0154 a0002c0002t0025g0045 a0002c0002t0027g0229 a0002c0002t0027g0230 a0002c0002t0027g0233 a0002c0002t0031g0227 a0002c0002t0033g0299 a0002c0002t0033g0303 a0002c0002t0033g0305 a0002c0002t0042g0025 a0002c0002t0059g0123 a0002c0002t0064g0102 a0002c0002t0065g0118 a0002c0002t0066g0101 a0002c0002t0067g0136 a0002c0002t0080g0175 a0002c0002t0081g0181 a0002c0002t0082g0182 a0002c0002t0084g0193 a0002c0002t0085g0278 a0002c0002t0086g0245 a0002c0002t0101g0254 a0002c0002t0104g0291 a0002c0005t0004g0194 a0002c0005t0004g0211 a0002c0005t0004g0215 a0002c0005t0004g0216 a0002c0005t0004g0217 a0002c0005t0004g0219 a0002c0005t0004g0220 a0002c0005t0010g0008 a0002c0005t0010g0009 a0002c0005t0010g0012 a0002c0005t0010g0014 a0002c0005t0010g0016 a0002c0005t0010g0021 a0002c0005t0025g0007 a0002c0005t0025g0010 a0002c0005t0031g0204 a0002c0005t0039g0003 a0002c0005t0054g0020 a0002c0005t0100g0210 a0002c0009t0024g0065 a0002c0009t0029g0272 a0002c0009t0029g0274 a0002c0009t0074g0173 a0002c0010t0016g0103 a0002c0018t0010g0015 a0002c0030t0045g0079 a0008c0026t0012g0158 a0009c0024t0031g0265 a0010c0023t0013g0143 a0011c0022t0060g0122	117	338	0.3462	17	c.117 others(38): Show c.1170-16120_1170-16119insATATTTATAATAAATAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH3_chr16_87597508_87703156	87637709	T T	TTCCGCCT others(10): Show TTCCGCCTCGTGGTGCCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp1 HG02622.hp2 others(2): Show HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02896.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0005 a0001c0002t0001 a0001c0003t0005	a0001c0002t0001g0235 a0001c0002t0001g0365 a0001c0003t0005g0019 others(2): Show a0001c0002t0001g0235 a0001c0002t0001g0365 a0001c0003t0005g0019 a0001c0003t0005g0029 a0001c0003t0005g0321	5	380	0.0132	17	c.383 others(34): Show c.383-6547_383-6531dupCCGCCTCGTGGTGCCCT	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JPH3_chr16_87597508_87703156	87659374	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01192.hp2 HG01361.hp1 others(9): Show HG00323.hp1 HG01192.hp2 HG01361.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG02056.hp2 HG02293.hp2 HG02602.hp1 HG02683.hp2 HG03453.hp1 HG03688.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0011 a0008c0052	a0001c0001t0001 a0001c0002t0001 a0001c0003t0006 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0006 a0001c0004t0001 a0001c0007t0001 a0001c0007t0031 a0001c0011t0002 a0008c0052t0001	a0001c0001t0001g0033 a0001c0001t0001g0142 a0001c0001t0001g0204 others(9): Show a0001c0001t0001g0033 a0001c0001t0001g0142 a0001c0001t0001g0204 a0001c0001t0001g0302 a0001c0001t0001g0373 a0001c0002t0001g0353 a0001c0003t0006g0158 a0001c0004t0001g0074 a0001c0007t0001g0140 a0001c0007t0031g0345 a0001c0011t0002g0234 a0008c0052t0001g0340	12	380	0.0316	17	c.116 others(38): Show c.1160+14351_1160+14352insAAAAAAAAAAAAAAAAA	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JPH3_chr16_87597508_87703156	87677226	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19090.hp2 NA19002.hp1 NA19090.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0113 a0001c0004t0001g0335 a0001c0004t0001g0113 a0001c0004t0001g0335	2	380	0.0053	17	c.116 others(36): Show c.1161-6916_1161-6915insCACACACACACACACAC	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	2/4			chr16	TogoVar
KALRN_chr3_124028369_124731325	124110070	T T	TACTTTGA others(10): Show TACTTTGATATATATGAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01123.hp1 HG01243.hp1 others(15): Show HG00642.hp1 HG01123.hp1 HG01243.hp1 HG01496.hp1 HG01517.hp2 HG02055.hp1 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02273.hp2 HG03041.hp2 HG03225.hp2 HG03540.hp1 HG03688.hp2 NA18612.hp1 NA18964.hp2 NA18995.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(12): Show a0001c0001 a0001c0003 a0001c0006 a0001c0010 a0001c0011 a0001c0015 a0001c0023 a0001c0024 a0001c0026 a0001c0030 a0001c0033 a0001c0054 a0001c0055 a0001c0057 a0002c0056	a0001c0001t0003 a0001c0001t0033 a0001c0003t0001 others(15): Show a0001c0001t0003 a0001c0001t0033 a0001c0003t0001 a0001c0003t0029 a0001c0006t0001 a0001c0010t0002 a0001c0011t0001 a0001c0015t0001 a0001c0023t0027 a0001c0024t0001 a0001c0024t0002 a0001c0026t0005 a0001c0030t0003 a0001c0033t0001 a0001c0054t0001 a0001c0055t0002 a0001c0057t0001 a0002c0056t0002	a0001c0001t0003g0029 a0001c0001t0033g0026 a0001c0003t0001g0045 others(15): Show a0001c0001t0003g0029 a0001c0001t0033g0026 a0001c0003t0001g0045 a0001c0003t0029g0048 a0001c0006t0001g0025 a0001c0010t0002g0012 a0001c0011t0001g0036 a0001c0015t0001g0046 a0001c0023t0027g0049 a0001c0024t0001g0044 a0001c0024t0002g0027 a0001c0026t0005g0032 a0001c0030t0003g0018 a0001c0033t0001g0030 a0001c0054t0001g0031 a0001c0055t0002g0014 a0001c0057t0001g0016 a0002c0056t0002g0015	18	116	0.1552	17	c.73+ others(34): Show c.73+76258_73+76259insCTTTGATATATATGACA	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124265298	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0001 a0001c0053t0001	a0001c0053t0001g0057 a0001c0053t0001g0057	1	116	0.0086	17	c.456 others(32): Show c.456+622_456+623insTTTTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	4/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124587698	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0029 a0001c0003t0029	a0001c0003t0029g0048 a0001c0003t0029g0048	1	116	0.0086	17	c.518 others(38): Show c.5182+24618_5182+24634dupTTTTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	34/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124605584	A A	AGAGAGAG others(10): Show AGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19240.hp2 HG02559.hp1 NA19240.hp2	a0001 a0006 a0001 a0006	a0001c0069 a0006c0078 a0001c0069 a0006c0078	a0001c0069t0013 a0006c0078t0001 a0001c0069t0013 a0006c0078t0001	a0001c0069t0013g0063 a0006c0078t0001g0061 a0001c0069t0013g0063 a0006c0078t0001g0061	2	116	0.0172	17	c.518 others(38): Show c.5183-26836_5183-26835insGAGAGAGAGAGAGAGAG	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	34/59			chr3	TogoVar
KALRN_chr3_124028369_124731325	124646391	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01123.hp2 HG03540.hp2 others(2): Show HG00323.hp1 HG01123.hp2 HG03540.hp2 NA19030.hp1 NA20300.hp1	a0001 a0001	a0001c0016 a0001c0018 a0001c0029 others(2): Show a0001c0016 a0001c0018 a0001c0029 a0001c0045 a0001c0053	a0001c0016t0025 a0001c0018t0004 a0001c0029t0002 others(2): Show a0001c0016t0025 a0001c0018t0004 a0001c0029t0002 a0001c0045t0002 a0001c0053t0001	a0001c0016t0025g0004 a0001c0018t0004g0104 a0001c0029t0002g0109 others(2): Show a0001c0016t0025g0004 a0001c0018t0004g0104 a0001c0029t0002g0109 a0001c0045t0002g0095 a0001c0053t0001g0057	5	116	0.0431	17	c.566 others(36): Show c.5665-4416_5665-4400dupTTTTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	37/59		INFO_REALIGN_3_PRIME	chr3	TogoVar

Search by Variant

Search

Search Results