Joint Open Genome and Omics Platform (JoGo)

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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
ITGB3BP_chr1_63435770_63528225	63472443	T T	TCCCTCTC others(14): Show TCCCTCTCCCCTCTCCCCTCTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01934.hp2 HG02257.hp1 others(2): Show HG01243.hp1 HG01934.hp2 HG02257.hp1 HG02451.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0362 others(2): Show a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0005t0001g0240	5	374	0.0134	21	c.254 others(38): Show c.254+6300_254+6320dupGAGAGGGGAGAGGGGAGAGGG	ITGB3BP	ENSG00000142856.17	transcript	ENST00000271002.15	protein_coding	4/8			chr1	TogoVar
ITGB3_chr17_47248827_47318743	47296861	G G	GGAGATGA others(14): Show GGAGATGACTTACTTATCTAGA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	370	0.0027	21	c.169 others(40): Show c.1691-2444_1691-2424dupGATGACTTACTTATCTAGAGA	ITGB3	ENSG00000259207.10	transcript	ENST00000559488.7	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGB3_chr17_47248827_47318743	47308160	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01167.hp1 HG01169.hp1 others(24): Show HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01361.hp2 HG01891.hp1 HG02055.hp1 HG02109.hp2 HG02135.hp2 HG02280.hp2 HG02486.hp1 HG02615.hp2 HG03139.hp2 HG03453.hp1 HG03516.hp2 NA18522.hp2 NA18941.hp1 NA18944.hp2 NA18955.hp1 NA18957.hp2 NA18962.hp1 NA18983.hp2 NA18988.hp1 NA19030.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0013 a0001c0001t0018 others(3): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019 a0001c0001t0026 a0001c0003t0010	a0001c0001t0001g0019 a0001c0001t0001g0052 a0001c0001t0001g0053 others(23): Show a0001c0001t0001g0019 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0098 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0122 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0013g0134 a0001c0001t0018g0115 a0001c0001t0019g0222 a0001c0001t0019g0224 a0001c0001t0026g0076 a0001c0003t0010g0061	27	370	0.0730	21	c.230 others(38): Show c.2301+532_2301+552dupTAATAATAATAATAATAATAA	ITGB3	ENSG00000259207.10	transcript	ENST00000559488.7	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGB5_chr3_124756948_124892365	124798055	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	352	0.0028	21	c.126 others(40): Show c.1264-1239_1264-1238insAAAAAAAAAAAAAAAAAAAAA	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	9/14			chr3	TogoVar
ITGBL1_chr13_101447675_101721446	101689211	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02040.hp1 HG02132.hp2 others(8): Show HG01433.hp2 HG02040.hp1 HG02132.hp2 HG02602.hp1 NA18962.hp1 NA18970.hp2 NA18982.hp2 NA18993.hp1 NA19063.hp2 NA19083.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0007	a0001c0001t0001 a0001c0002t0001 a0001c0003t0004 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0004 a0002c0007t0004	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0015 others(8): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0051 a0001c0001t0001g0092 a0001c0001t0001g0110 a0001c0001t0001g0146 a0001c0001t0001g0298 a0001c0002t0001g0233 a0001c0003t0004g0181 a0002c0007t0004g0071	11	306	0.0360	21	c.101 others(40): Show c.1016-3372_1016-3352dupAAAAAAAAAAAAAAAAAAAAA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITIH2_chr10_7698316_7754520	7724570	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0349 a0001c0002t0001g0349	1	380	0.0026	21	c.984 others(38): Show c.984+1020_984+1021insAAAAAAAAAAAAAAAAAAAAA	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	9/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737795	A A	AATATTCT others(14): Show AATATTCTATATTATATTCTAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp1 HG00639.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0164 a0001c0001t0001g0165	2	380	0.0053	21	c.195 others(38): Show c.1958-822_1958-802dupTTCTATATTATATTCTATATA	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737819	A A	AATATTAT others(14): Show AATATTATATATTATATTCTAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01891.hp2 HG02723.hp2 HG00280.hp2 HG01891.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0016 a0001c0001 a0001c0008 a0001c0016	a0001c0001t0001 a0001c0008t0001 a0001c0016t0001 a0001c0001t0001 a0001c0008t0001 a0001c0016t0001	a0001c0001t0001g0071 a0001c0008t0001g0144 a0001c0016t0001g0068 a0001c0001t0001g0071 a0001c0008t0001g0144 a0001c0016t0001g0068	3	380	0.0079	21	c.195 others(38): Show c.1958-797_1958-796insATATATTATATTCTATATATT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737825	C C	CTATATTA others(14): Show CTATATTATATTCTATATATTA	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18522.hp1 HG03041.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0151 a0001c0001t0001g0012 a0001c0001t0001g0151	2	380	0.0053	21	c.195 others(38): Show c.1958-443_1958-423dupTATTATATATTATATTCTATA	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7738136	T T	TATTATAT others(14): Show TATTATATATTATATTCTATAC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	380	0.0026	21	c.195 others(38): Show c.1958-465_1958-464insCATTATATATTATATTCTATA	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH5_chr10_7554270_7671966	7597044	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0238 a0003c0002t0002g0238	1	342	0.0029	21	c.940 others(40): Show c.940-10976_940-10975insTTTTTTTTTTTTTTTTTTTTT	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	7/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7597063	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01256.hp2 HG02976.hp1 HG01099.hp1 HG01256.hp2 HG02976.hp1	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0015 a0004c0022 a0006c0046 a0002c0015 a0004c0022 a0006c0046	a0002c0015t0001 a0004c0022t0002 a0006c0046t0001 a0002c0015t0001 a0004c0022t0002 a0006c0046t0001	a0002c0015t0001g0285 a0004c0022t0002g0221 a0006c0046t0001g0117 a0002c0015t0001g0285 a0004c0022t0002g0221 a0006c0046t0001g0117	3	342	0.0088	21	c.940 others(40): Show c.940-10995_940-10994insATTTTTTTTTTTTTTTTTTTT	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	7/13			chr10	TogoVar
ITK_chr5_157175840_157260185	157233963	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0132 a0001c0001t0003g0132	1	348	0.0029	21	c.768 others(38): Show c.768+1570_768+1571insATATATATATATATATATATT	ITK	ENSG00000113263.14	transcript	ENST00000422843.8	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITLN2_chr1_160940025_160959809	160942871	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	480	0.0021	21	c.22 others(32): Show c.2268_*2269insTTTTTTTTTTTTTTTTTTTTT	ITLN2	ENSG00000158764.7	transcript	ENST00000368029.4	protein_coding		2153		chr1	TogoVar
ITPA_chr20_3204498_3228860	3207696	A A	AAACAACA others(14): Show AAACAACAACAACAACAACAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00733.hp2 HG01167.hp2 others(20): Show HG00639.hp1 HG00733.hp2 HG01167.hp2 HG01169.hp1 HG01361.hp2 HG02257.hp2 HG04115.hp1 NA18942.hp1 NA18943.hp2 NA18954.hp1 NA18968.hp2 NA18986.hp2 NA18988.hp1 NA18998.hp1 NA19009.hp2 NA19057.hp1 NA19062.hp1 NA19066.hp2 NA19077.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0012 a0001c0002t0001g0021 others(12): Show a0001c0002t0001g0006 a0001c0002t0001g0012 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0203 a0001c0002t0001g0207 a0001c0002t0001g0212 a0001c0002t0001g0227 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0250	23	414	0.0556	21	c.-18 others(32): Show c.-1856_-1855insAACAACAACAACAACAACAAC	ITPA	ENSG00000125877.13	transcript	ENST00000380113.8	protein_coding		1801		chr20	TogoVar
ITPR2_chr12_26330352_26838194	26605120	A A	ATAAAAAA others(14): Show ATAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0070 a0001c0002t0017g0070	1	142	0.0070	21	c.346 others(40): Show c.3463-2415_3463-2414insATATATATATATTTTTTTTTA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	26/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26666162	A A	ATAGATAG others(14): Show ATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp2 HG01074.hp1 others(30): Show HG00642.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01192.hp1 HG01261.hp1 HG01261.hp2 HG01981.hp2 HG02004.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02630.hp1 HG02738.hp1 HG02895.hp1 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03516.hp1 HG03704.hp1 HG03834.hp1 NA18522.hp1 NA18747.hp1 NA18960.hp1 NA18970.hp2 NA18980.hp1 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0012 a0001c0015 a0001c0016 a0001c0022 a0001c0027 a0001c0029 a0001c0051 a0001c0065 a0002c0023 a0002c0052 a0003c0032 a0008c0053 a0009c0050	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(29): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0017 a0001c0001t0035 a0001c0001t0052 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0017 a0001c0003t0001 a0001c0003t0014 a0001c0004t0010 a0001c0005t0005 a0001c0006t0001 a0001c0006t0030 a0001c0012t0005 a0001c0015t0004 a0001c0016t0003 a0001c0016t0042 a0001c0022t0002 a0001c0022t0003 a0001c0027t0055 a0001c0027t0056 a0001c0029t0049 a0001c0051t0002 a0001c0065t0024 a0002c0023t0019 a0002c0052t0001 a0003c0032t0009 a0008c0053t0038 a0009c0050t0003	a0001c0001t0001g0040 a0001c0001t0003g0074 a0001c0001t0007g0046 others(30): Show a0001c0001t0001g0040 a0001c0001t0003g0074 a0001c0001t0007g0046 a0001c0001t0017g0102 a0001c0001t0035g0053 a0001c0001t0052g0134 a0001c0002t0006g0015 a0001c0002t0007g0014 a0001c0002t0008g0100 a0001c0002t0017g0070 a0001c0003t0001g0037 a0001c0003t0001g0061 a0001c0003t0014g0099 a0001c0004t0010g0118 a0001c0005t0005g0086 a0001c0006t0001g0060 a0001c0006t0030g0030 a0001c0012t0005g0023 a0001c0015t0004g0006 a0001c0016t0003g0032 a0001c0016t0042g0107 a0001c0022t0002g0004 a0001c0022t0003g0082 a0001c0027t0055g0137 a0001c0027t0056g0138 a0001c0029t0049g0121 a0001c0051t0002g0005 a0001c0065t0024g0141 a0002c0023t0019g0132 a0002c0052t0001g0073 a0003c0032t0009g0049 a0008c0053t0038g0075 a0009c0050t0003g0016	33	142	0.2324	21	c.141 others(38): Show c.1410-112_1410-111insATCTATCTATCTATCTATCTA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	13/56			chr12	TogoVar
ITPRIPL2_chr16_19108964_19126629	19110393	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0000 a0001c0001t0007g0000	1	330	0.0030	21	c.-40 others(32): Show c.-4069_-4068insAAAAAAAAAAAAAAAAAAAAA	ITPRIPL2	ENSG00000205730.7	transcript	ENST00000381440.5	protein_coding		3570		chr16	TogoVar
ITPRIP_chr10_104304700_104343465	104309330	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	324	0.0031	21	c.50 others(32): Show c.5077_*5078insATATATATATATATATATATA	ITPRIP	ENSG00000148841.17	transcript	ENST00000337478.3	protein_coding		369		chr10	TogoVar
ITPRIP_chr10_104304700_104343465	104309331	T T	TATATATA others(14): Show TATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0183 a0001c0001t0003g0183	1	324	0.0031	21	c.50 others(32): Show c.5076_*5077insTATATATATATATATATATAT	ITPRIP	ENSG00000148841.17	transcript	ENST00000337478.3	protein_coding		368		chr10	TogoVar
ITSN1_chr21_33637501_33904861	33876065	T T	TCTCTTTC others(14): Show TCTCTTTCTCCCTTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp2 HG01071.hp1 others(47): Show HG00597.hp1 HG00621.hp2 HG01071.hp1 HG01168.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01516.hp2 HG01928.hp1 HG01934.hp1 HG02027.hp2 HG02040.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02523.hp1 HG02523.hp2 HG02698.hp2 HG02897.hp2 HG03041.hp1 HG03239.hp1 HG03490.hp1 HG04184.hp2 NA18942.hp2 NA18948.hp2 NA18951.hp2 NA18962.hp1 NA18962.hp2 NA18973.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp2 NA18990.hp2 NA18991.hp1 NA19000.hp2 NA19004.hp1 NA19010.hp2 NA19011.hp1 NA19060.hp1 NA19067.hp2 NA19079.hp2 NA19084.hp2 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0001t0045 a0001c0001t0048 a0001c0001t0050 a0001c0002t0001 a0001c0002t0004 a0001c0002t0017 a0001c0002t0041 a0001c0005t0003 a0001c0016t0003	a0001c0001t0001g0007 a0001c0001t0001g0096 a0001c0001t0001g0106 others(47): Show a0001c0001t0001g0007 a0001c0001t0001g0096 a0001c0001t0001g0106 a0001c0001t0001g0188 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0044 a0001c0001t0002g0048 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0113 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0142 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0230 a0001c0001t0002g0235 a0001c0001t0003g0026 a0001c0001t0003g0032 a0001c0001t0003g0047 a0001c0001t0003g0112 a0001c0001t0003g0115 a0001c0001t0003g0186 a0001c0001t0003g0216 a0001c0001t0003g0225 a0001c0001t0018g0154 a0001c0001t0018g0210 a0001c0001t0045g0067 a0001c0001t0048g0040 a0001c0001t0050g0086 a0001c0002t0001g0054 a0001c0002t0004g0001 a0001c0002t0004g0082 a0001c0002t0004g0097 a0001c0002t0004g0114 a0001c0002t0004g0158 a0001c0002t0004g0205 a0001c0002t0017g0012 a0001c0002t0041g0111 a0001c0005t0003g0050 a0001c0016t0003g0223	50	242	0.2066	21	c.434 others(38): Show c.4341+553_4341+573dupCCCTTTTTCTTTCCTCTTTCT	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	34/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN1_chr21_33637501_33904861	33877059	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03516.hp2 HG03098.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0009 a0001c0009t0013 a0001c0002t0009 a0001c0009t0013	a0001c0002t0009g0131 a0001c0009t0013g0138 a0001c0002t0009g0131 a0001c0009t0013g0138	2	242	0.0083	21	c.434 others(40): Show c.4341+1550_4341+1551insTTTTTTTTTTTTTTTTTTTTT	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	34/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN2_chr2_24197864_24365536	24251328	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0002 a0003c0003t0006g0002	1	224	0.0045	21	c.312 others(40): Show c.3120+1016_3120+1017insATTTTTTTTTTTTTTTTTTTT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	25/39			chr2	TogoVar
ITSN2_chr2_24197864_24365536	24320525	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0217 a0001c0005t0002g0217	1	224	0.0045	21	c.32- others(36): Show c.32-5322_32-5302dupTTTTTTTTTTTTTTTTTTTTT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	2/39			chr2	TogoVar
ITSN2_chr2_24197864_24365536	24361740	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00738.hp1 others(44): Show HG00280.hp1 HG00280.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01255.hp1 HG01361.hp2 HG01516.hp1 HG02056.hp2 HG02109.hp1 HG02165.hp2 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02698.hp1 HG02717.hp1 HG02922.hp1 HG03041.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18943.hp1 NA18943.hp2 NA18949.hp1 NA18956.hp1 NA18959.hp2 NA18964.hp1 NA18980.hp2 NA18989.hp1 NA18993.hp1 NA19004.hp1 NA19011.hp2 NA19056.hp1 NA19066.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0021 a0002c0002 a0001c0001 a0001c0021 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0021t0001 a0002c0002t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0040 others(44): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0003g0053 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0007g0003 a0001c0001t0008g0154 a0001c0021t0001g0121 a0002c0002t0001g0194	47	224	0.2098	21	c.-14 others(32): Show c.-1471_-1470insTTTTTTTTTTTTTTTTTTTTT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding		1205		chr2	TogoVar
IVD_chr15_40400795_40426308	40422585	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	378	0.0027	21	c.43 others(32): Show c.4322_*4323insTTTTTTTTTTTTTTTTTTTTT	IVD	ENSG00000128928.10	transcript	ENST00000487418.8	protein_coding		1278		chr15	TogoVar
IWS1_chr2_127475812_127531489	127525088	A A	AGTAGGGG others(14): Show AGTAGGGGGGTGGGGTAGGGGC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01891.hp1 HG02109.hp1 others(11): Show HG01175.hp1 HG01891.hp1 HG02109.hp1 HG02257.hp1 HG02257.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG02965.hp2 HG03209.hp1 NA19030.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0006 a0007c0009 a0001c0001 a0004c0006 a0007c0009	a0001c0001t0001 a0001c0001t0006 a0004c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0004c0006t0001 a0007c0009t0001	a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 others(11): Show a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0277 a0001c0001t0006g0282 a0004c0006t0001g0189 a0004c0006t0001g0190 a0004c0006t0001g0191 a0004c0006t0001g0192 a0007c0009t0001g0276	14	338	0.0414	21	c.34+ others(36): Show c.34+1066_34+1086dupGCCCCTACCCCACCCCCCTAC	IWS1	ENSG00000163166.15	transcript	ENST00000295321.9	protein_coding	1/13			chr2	TogoVar
IZUMO3_chr9_24537952_24550897	24541451	C C	CGGTGCCC others(14): Show CGGTGCCCCCACACTATGGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	426	0.0024	21	c.17 others(32): Show c.1777_*1778insACACCATAGTGTGGGGGCACC	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		1500		chr9	TogoVar
JAK1_chr1_64828229_64971549	64897508	G G	GGAGGAGG others(14): Show GGAGGAGGAGGGGGGAGGAGGA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	326	0.0031	21	c.-77 others(40): Show c.-77-11168_-77-11167insTCCTCCTCCCCCCTCCTCCTC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAKMIP2_chr5_147580438_147787728	147637437	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01361.hp1 HG01433.hp2 others(3): Show HG00738.hp2 HG01361.hp1 HG01433.hp2 HG02683.hp2 NA18942.hp2 NA20805.hp1	a0001 a0001	a0001c0007 a0001c0008 a0001c0007 a0001c0008	a0001c0007t0007 a0001c0007t0066 a0001c0007t0067 others(1): Show a0001c0007t0007 a0001c0007t0066 a0001c0007t0067 a0001c0008t0001	a0001c0007t0007g0163 a0001c0007t0007g0166 a0001c0007t0007g0169 others(3): Show a0001c0007t0007g0163 a0001c0007t0007g0166 a0001c0007t0007g0169 a0001c0007t0066g0074 a0001c0007t0067g0165 a0001c0008t0001g0161	6	250	0.0240	21	c.153 others(38): Show c.1531-390_1531-389insAAAAAAAAAAAAAAAAAAAAA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	10/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02486.hp1 HG02615.hp1 others(2): Show HG02258.hp2 HG02486.hp1 HG02615.hp1 HG02717.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0015 a0001c0002t0082 a0001c0002t0083 others(1): Show a0001c0001t0015 a0001c0002t0082 a0001c0002t0083 a0001c0005t0017	a0001c0001t0015g0247 a0001c0002t0082g0245 a0001c0002t0083g0198 others(2): Show a0001c0001t0015g0247 a0001c0002t0082g0245 a0001c0002t0083g0198 a0001c0005t0017g0188 a0001c0005t0017g0190	5	250	0.0200	21	c.-14 others(42): Show c.-149+40300_-149+40301insAAAAATATATATATATATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132167856	A A	ACCCCTCG others(14): Show ACCCCTCGGCCCTCGCCCCTCG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0035 a0001c0006t0035	a0001c0006t0035g0057 a0001c0006t0035g0057	1	158	0.0063	21	c.23 others(34): Show c.23-76_*23-56dupGCCCCTCGGCCCTCGCCCCTC	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(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0136 a0001c0001t0027g0136	1	328	0.0031	21	c.67+ others(38): Show c.67+20895_67+20896insATATATATATATATATATTTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25660783	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG03471.hp2 HG02109.hp1 HG02451.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0024 a0001c0001t0004 a0001c0001t0013 a0001c0001t0024	a0001c0001t0004g0052 a0001c0001t0013g0217 a0001c0001t0024g0101 a0001c0001t0004g0052 a0001c0001t0013g0217 a0001c0001t0024g0101	3	328	0.0092	21	c.67+ others(38): Show c.67+20895_67+20896insATATATATATATATATATATA	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9			chr21	TogoVar
JAM2_chr21_25634258_25722562	25666313	C C	CTATTATT others(14): Show CTATTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0107 a0001c0001t0039g0107	1	328	0.0031	21	c.68- others(38): Show c.68-17569_68-17568insATTATTATTATTATTATTATT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25666315	T T	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01884.hp2 HG01981.hp1 others(37): Show HG00558.hp2 HG01884.hp2 HG01981.hp1 HG02015.hp1 HG02155.hp2 HG02257.hp1 HG02486.hp2 HG02647.hp2 HG02717.hp2 HG02895.hp1 HG02895.hp2 HG03209.hp1 HG03225.hp1 HG03516.hp2 HG03942.hp2 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18963.hp2 NA18964.hp1 NA18967.hp2 NA18973.hp2 NA18981.hp1 NA18982.hp2 NA18987.hp2 NA18991.hp1 NA19005.hp1 NA19058.hp1 NA19066.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19090.hp1 NA20129.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0019 a0001c0001t0046 a0001c0002t0003 a0001c0002t0016 a0001c0002t0021 a0001c0002t0022 a0001c0002t0030 a0001c0002t0031 a0002c0003t0007 a0002c0003t0041 a0005c0007t0025	a0001c0001t0001g0056 a0001c0001t0002g0245 a0001c0001t0002g0248 others(37): Show a0001c0001t0001g0056 a0001c0001t0002g0245 a0001c0001t0002g0248 a0001c0001t0002g0281 a0001c0001t0002g0285 a0001c0001t0002g0290 a0001c0001t0002g0293 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0314 a0001c0001t0003g0297 a0001c0001t0005g0299 a0001c0001t0008g0223 a0001c0001t0008g0227 a0001c0001t0008g0228 a0001c0001t0008g0229 a0001c0001t0011g0306 a0001c0001t0019g0130 a0001c0001t0046g0137 a0001c0002t0003g0006 a0001c0002t0003g0154 a0001c0002t0003g0157 a0001c0002t0003g0167 a0001c0002t0003g0170 a0001c0002t0003g0184 a0001c0002t0003g0201 a0001c0002t0016g0165 a0001c0002t0021g0200 a0001c0002t0022g0168 a0001c0002t0022g0169 a0001c0002t0030g0164 a0001c0002t0031g0155 a0002c0003t0007g0145 a0002c0003t0007g0146 a0002c0003t0041g0239 a0005c0007t0025g0129 a0005c0007t0025g0131	40	328	0.1220	21	c.68- others(38): Show c.68-17562_68-17542dupATTATTATTATTATTATTATT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JARID2_chr6_15241069_15527042	15473514	G G	GCCCCCCC others(14): Show GCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	284	0.0035	21	c.670 others(38): Show c.670+4812_670+4813insCCCCCCCCCCCCCCCCCCCCC	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JARID2_chr6_15241069_15527042	15486806	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	284	0.0035	21	c.671 others(36): Show c.671-483_671-482insTTTTTTTTTTTTTTTTTTTTT	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JAZF1_chr7_27825577_28185795	27982313	T T	TGGCTCAG others(14): Show TGGCTCAGAGGGTCCCACGCCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp2 HG01069.hp2 others(62): Show HG00323.hp1 HG00558.hp2 HG01069.hp2 HG01071.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01515.hp1 HG01934.hp1 HG02027.hp1 HG02027.hp2 HG02129.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03704.hp2 HG03942.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18948.hp2 NA18953.hp2 NA18959.hp1 NA18965.hp1 NA18984.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp2 NA18998.hp2 NA19043.hp2 NA19057.hp1 NA19058.hp2 NA19074.hp1 NA19074.hp2 NA19085.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 others(62): Show a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0110 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0020 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0040 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0065 a0001c0001t0002g0071 a0001c0001t0005g0029 a0001c0001t0006g0131 a0001c0001t0006g0160 a0001c0001t0007g0028 a0001c0001t0010g0011 a0001c0001t0016g0199 a0001c0001t0018g0170 a0001c0001t0020g0115 a0001c0001t0022g0206	65	206	0.3155	21	c.188 others(38): Show c.188+9575_188+9595dupGGGCGTGGGACCCTCTGAGCC	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	2/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	28104806	A A	AGGGGAGA others(14): Show AGGGGAGATTAAAAGATTAAAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	206	0.0049	21	c.115 others(40): Show c.115+75636_115+75656dupGTTTAATCTTTTAATCTCCCC	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	28110604	A A	AAAGGAAA others(14): Show AAAGGAAAAGGAAAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA19030.hp1 HG03453.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0159 a0001c0001t0002g0046 a0001c0001t0001g0159 a0001c0001t0002g0046	2	206	0.0097	21	c.115 others(40): Show c.115+69858_115+69859insCCTTTCCTTTTCCTTTTCCTT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	28120501	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp2 HG02273.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0081 a0001c0001t0001g0085	2	206	0.0097	21	c.115 others(40): Show c.115+59941_115+59961dupAAAAAAAAAAAAAAAAAAAAA	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
JMJD1C_chr10_63162225_63470977	63234493	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	310	0.0032	21	c.448 others(40): Show c.448-14531_448-14511dupTTTTTTTTTTTTTTTTTTTTT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	3/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63292144	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01175.hp2 NA18953.hp2 others(6): Show HG00621.hp1 HG01175.hp2 NA18953.hp2 NA18971.hp1 NA18975.hp1 NA19000.hp2 NA19054.hp2 NA19085.hp2 NA19087.hp1	a0002 a0003 a0008 a0002 a0003 a0008	a0002c0002 a0003c0003 a0008c0009 a0002c0002 a0003c0003 a0008c0009	a0002c0002t0001 a0003c0003t0001 a0008c0009t0001 a0002c0002t0001 a0003c0003t0001 a0008c0009t0001	a0002c0002t0001g0166 a0003c0003t0001g0171 a0003c0003t0001g0172 others(6): Show a0002c0002t0001g0166 a0003c0003t0001g0171 a0003c0003t0001g0172 a0003c0003t0001g0173 a0003c0003t0001g0179 a0003c0003t0001g0180 a0003c0003t0001g0181 a0003c0003t0001g0191 a0008c0009t0001g0189	9	310	0.0290	21	c.334 others(40): Show c.334-27381_334-27380insAAAAAAAAAAAAAAAAAAAAA	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63337624	A A	AAAAGAAA others(14): Show AAAAGAAAAAGAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03225.hp2 HG01109.hp1 HG03225.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0001 a0001c0001t0001 a0005c0005t0001	a0001c0001t0001g0143 a0005c0005t0001g0123 a0001c0001t0001g0143 a0005c0005t0001g0123	2	310	0.0065	21	c.333 others(40): Show c.333+42693_333+42694insCTTTTCTTTTTCTTTTTCTTT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63387628	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0118 a0002c0002t0001g0118	1	310	0.0032	21	c.169 others(38): Show c.169-7147_169-7146insAAAAAAAAAAAAAAAAAAAAA	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	1/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63387629	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02717.hp1 HG02818.hp2 others(2): Show HG00639.hp1 HG02717.hp1 HG02818.hp2 HG02965.hp2 HG06807.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0001 a0002c0002t0001 a0005c0005t0001 a0001c0001t0001 a0002c0002t0001 a0005c0005t0001	a0001c0001t0001g0032 a0001c0001t0001g0125 a0002c0002t0001g0148 others(2): Show a0001c0001t0001g0032 a0001c0001t0001g0125 a0002c0002t0001g0148 a0005c0005t0001g0120 a0005c0005t0001g0121	5	310	0.0161	21	c.169 others(38): Show c.169-7168_169-7148dupAAAAAAAAAAAAAAAAAAAAA	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	1/25			chr10	TogoVar
JMY_chr5_79231131_79332211	79270491	A A	AATGTATA others(14): Show AATGTATATTTACATAAATATT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0009 a0003c0005t0009	a0003c0005t0009g0197 a0003c0005t0009g0197	1	342	0.0029	21	c.103 others(40): Show c.1033-7419_1033-7418insATGTATATTTACATAAATATT	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	1/10			chr5	TogoVar
JPH2_chr20_44101590_44192188	44133946	T T	TATATATA others(14): Show TATATATATATATTTATTATAA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0116 a0001c0001t0063g0116	1	338	0.0030	21	c.117 others(42): Show c.1170-15324_1170-15323insTTATAATAAATATATATATAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44134181	T T	TAAAATAT others(14): Show TAAAATATTTATTATATATATA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0169 a0001c0006t0011g0169	1	338	0.0030	21	c.117 others(42): Show c.1170-15559_1170-15558insTATATATATAATAAATATTTT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar

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