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
JAK1_chr1_64828229_64971549	64902583	A A	AGAGAGAG others(15): Show AGAGAGAGAGAGAGAGAGAGTGT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02273.hp1 HG02572.hp1 others(4): Show HG01168.hp1 HG02273.hp1 HG02572.hp1 HG02896.hp1 HG03516.hp1 HG03834.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0007t0001	a0001c0001t0001g0065 a0001c0001t0001g0124 a0001c0001t0001g0139 others(4): Show a0001c0001t0001g0065 a0001c0001t0001g0124 a0001c0001t0001g0139 a0001c0001t0002g0220 a0001c0001t0002g0313 a0001c0001t0003g0123 a0001c0007t0001g0006	7	326	0.0215	22	c.-77 others(41): Show c.-77-16243_-77-16242insACACTCTCTCTCTCTCTCTCTC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64902583	A A	AGAGAGAG others(15): Show AGAGAGAGAGAGAGAGAGTGTGT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	326	0.0031	22	c.-77 others(41): Show c.-77-16243_-77-16242insACACACTCTCTCTCTCTCTCTC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64902583	A A	AGAGAGAG others(15): Show AGAGAGAGAGAGAGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0295 a0001c0005t0001g0295	1	326	0.0031	22	c.-77 others(41): Show c.-77-16243_-77-16242insACACACACACTCTCTCTCTCTC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK2_chr9_4980272_5134948	5062500	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0038 a0001c0004t0006g0038	1	364	0.0028	22	c.105 others(41): Show c.1057-2373_1057-2352dupAAAAAAAAAAAAAAAAAAAAAA	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
JAK2_chr9_4980272_5134948	5131435	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02976.hp2 HG02809.hp1 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0037 a0001c0004t0006g0046 a0001c0004t0006g0037 a0001c0004t0006g0046	2	364	0.0055	22	c.46 others(33): Show c.4644_*4645insTTTTTTTTTTTTTTTTTTTTTT	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding		1488		chr9	TogoVar
JAKMIP1_chr4_6021199_6205549	6080984	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02451.hp1 HG03195.hp2 others(3): Show HG00673.hp1 HG02451.hp1 HG03195.hp2 HG03491.hp2 HG03516.hp1 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0003c0004t0002	a0001c0001t0001g0071 a0001c0001t0001g0204 a0001c0001t0001g0213 others(3): Show a0001c0001t0001g0071 a0001c0001t0001g0204 a0001c0001t0001g0213 a0001c0001t0003g0216 a0001c0002t0001g0150 a0003c0004t0002g0232	6	233	0.0258	22	c.110 others(39): Show c.1101+603_1101+624dupGTGTGTGTGTGTGTGTGTGTGT	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	6/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6152789	A A	AATATATA others(15): Show AATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp2 HG01358.hp1 others(2): Show HG00280.hp1 HG00735.hp2 HG01358.hp1 HG01978.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0158 others(2): Show a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0158 a0001c0001t0001g0171 a0001c0001t0001g0176	5	233	0.0215	22	c.-14 others(43): Show c.-147-39814_-147-39793dupGTATATATATATATATATATAT	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	1/20			chr4	TogoVar
JAKMIP2_chr5_147580438_147787728	147637437	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA20752.hp1 HG01993.hp2 NA20752.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0055 a0001c0007t0007 a0001c0007t0055	a0001c0007t0007g0170 a0001c0007t0055g0026 a0001c0007t0007g0170 a0001c0007t0055g0026	2	250	0.0080	22	c.153 others(39): Show c.1531-390_1531-389insAAAAAAAAAAAAAAAAAAAAAA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	10/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132142490	G G	GCCCCTCT others(15): Show GCCCCTCTCCCCCGGCCCCTCTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0003 a0003c0018t0003	a0003c0018t0003g0015 a0003c0018t0003g0015	1	158	0.0063	22	c.160 others(39): Show c.1602+446_1602+447insTCTCCCCCGGCCCCTCTCCCCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132150728	C C	CTATCCGT others(15): Show CTATCCGTCCTCCATAATCCATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01361.hp2 HG02280.hp1 others(6): Show HG01243.hp1 HG01361.hp2 HG02280.hp1 HG02523.hp1 HG02717.hp2 HG03098.hp1 NA18983.hp1 NA18983.hp2 NA19081.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0015 a0001c0019 others(5): Show a0001c0001 a0001c0015 a0001c0019 a0002c0023 a0002c0025 a0002c0029 a0002c0031 a0003c0018	a0001c0001t0001 a0001c0015t0001 a0001c0015t0002 others(6): Show a0001c0001t0001 a0001c0015t0001 a0001c0015t0002 a0001c0019t0015 a0002c0023t0003 a0002c0025t0008 a0002c0029t0015 a0002c0031t0039 a0003c0018t0003	a0001c0001t0001g0116 a0001c0015t0001g0030 a0001c0015t0002g0018 others(6): Show a0001c0001t0001g0116 a0001c0015t0001g0030 a0001c0015t0002g0018 a0001c0019t0015g0085 a0002c0023t0003g0073 a0002c0025t0008g0033 a0002c0029t0015g0053 a0002c0031t0039g0088 a0003c0018t0003g0101	9	158	0.0570	22	c.200 others(39): Show c.2007+723_2007+744dupTAATCCATGTATCCGTCCTCCA	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132159923	G G	GGGGCCTC others(15): Show GGGGCCTCTCGCTGTGTGATGCT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0008 a0002c0008t0003g0008	1	158	0.0063	22	c.222 others(41): Show c.2221-3283_2221-3282insCCTCTCGCTGTGTGATGCTGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132168138	A A	AGAACTGG others(15): Show AGAACTGGCTCTGCCGACTTCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0020 a0003c0002t0020	a0003c0002t0020g0093 a0003c0002t0020g0093	1	158	0.0063	22	c.21 others(31): Show c.210_*231dupAACTGGCTCTGCCGACTTCTCG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/24	1129	INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132180530	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0037 a0002c0004t0003g0037	1	158	0.0063	22	c.11 others(43): Show c.1104-1812_*1104-1811insTGTGTGCGTGTGTGTGTGTGTG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132180740	T T	TGTGCGTG others(15): Show TGTGCGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0020 a0003c0002t0020	a0003c0002t0020g0093 a0003c0002t0020g0093	1	158	0.0063	22	c.11 others(43): Show c.1104-1616_*1104-1615insTGCGTGTGTGTGTGTGTGTGCG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132180740	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0034 a0003c0002t0001g0034	1	158	0.0063	22	c.11 others(43): Show c.1104-1616_*1104-1615insTGTGTGTGTGTGTGTGTGTGCG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAM2_chr21_25634258_25722562	25660759	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	328	0.0031	22	c.67+ others(39): Show c.67+20874_67+20895dupATATATATATATATATATATAT	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(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0283	1	328	0.0031	22	c.67+ others(39): Show c.67+20895_67+20896insATATATATATATATATATATTT	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(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0004 a0002c0003t0007g0004	1	328	0.0031	22	c.67+ others(39): Show c.67+20895_67+20896insATATATATATATATATATTTTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JARID2_chr6_15241069_15527042	15320852	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0106 a0001c0001t0008g0106	1	284	0.0035	22	c.46- others(39): Show c.46-53255_46-53234dupGTGTGTGTGTGTGTGTGTGTGT	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JARID2_chr6_15241069_15527042	15486806	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0137 a0001c0002t0005g0137	1	284	0.0035	22	c.671 others(37): Show c.671-483_671-482insTTTTTTTTTTTTTTTTTTTTTT	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JAZF1_chr7_27825577_28185795	27849752	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03239.hp2 NA18965.hp2 others(2): Show HG01167.hp2 HG03239.hp2 NA18965.hp2 NA19004.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0092 a0001c0001t0001g0135 a0001c0001t0001g0185 others(2): Show a0001c0001t0001g0092 a0001c0001t0001g0135 a0001c0001t0001g0185 a0001c0001t0002g0020 a0001c0001t0002g0055	5	206	0.0243	22	c.386 others(39): Show c.386-8907_386-8886dupGTGTGTGTGTGTGTGTGTGTGT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	3/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	27849772	C C	CACACACA others(15): Show CACACACACACACACACACATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp2 HG02809.hp2 HG01081.hp2 HG01109.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0106 a0001c0001t0001g0144 a0001c0001t0014g0042 a0001c0001t0001g0106 a0001c0001t0001g0144 a0001c0001t0014g0042	3	206	0.0146	22	c.386 others(39): Show c.386-8906_386-8905insATATGTGTGTGTGTGTGTGTGT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	3/4			chr7	TogoVar
JCAD_chr10_30007803_30064586	30059599	T T	TCCGCCCC others(15): Show TCCGCCCCGCCCACCGCCCGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01884.hp1 HG02258.hp2 others(29): Show HG01167.hp2 HG01884.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02647.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0006 others(6): Show a0001 a0002 a0006 a0007 a0009 a0010 a0023 a0027 a0033	a0001c0005 a0001c0008 a0001c0010 others(9): Show a0001c0005 a0001c0008 a0001c0010 a0002c0002 a0002c0006 a0006c0011 a0007c0032 a0009c0016 a0010c0017 a0023c0026 a0027c0049 a0033c0048	a0001c0005t0007 a0001c0005t0011 a0001c0005t0021 others(16): Show a0001c0005t0007 a0001c0005t0011 a0001c0005t0021 a0001c0008t0010 a0001c0008t0011 a0001c0008t0023 a0001c0010t0022 a0002c0002t0003 a0002c0002t0016 a0002c0002t0031 a0002c0006t0004 a0002c0006t0026 a0006c0011t0019 a0007c0032t0061 a0009c0016t0003 a0010c0017t0004 a0023c0026t0049 a0027c0049t0032 a0033c0048t0004	a0001c0005t0007g0128 a0001c0005t0011g0028 a0001c0005t0021g0134 others(26): Show a0001c0005t0007g0128 a0001c0005t0011g0028 a0001c0005t0021g0134 a0001c0008t0010g0006 a0001c0008t0010g0082 a0001c0008t0011g0304 a0001c0008t0023g0008 a0001c0008t0023g0125 a0001c0010t0022g0011 a0001c0010t0022g0133 a0002c0002t0003g0135 a0002c0002t0016g0089 a0002c0002t0016g0090 a0002c0002t0016g0091 a0002c0002t0031g0080 a0002c0006t0004g0122 a0002c0006t0004g0124 a0002c0006t0004g0126 a0002c0006t0026g0199 a0006c0011t0019g0127 a0006c0011t0019g0196 a0006c0011t0019g0197 a0007c0032t0061g0084 a0009c0016t0003g0303 a0010c0017t0004g0136 a0010c0017t0004g0137 a0023c0026t0049g0083 a0027c0049t0032g0029 a0033c0048t0004g0098	32	398	0.0804	22	c.-19 others(31): Show c.-199_-178dupGCCCGGGCGGTGGGCGGGGCGG	JCAD	ENSG00000165757.9	transcript	ENST00000375377.2	protein_coding		14		chr10	TogoVar
JKAMP_chr14_59479517_59510410	59502754	T T	TTGGTTTT others(15): Show TTGGTTTTTTTTCTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	358	0.0028	22	c.718 others(39): Show c.718-1099_718-1098insGGTTTTTTTTCTTTGTTTTTGT	JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
JKAMP_chr14_59479517_59510410	59502754	T T	TTGTTTTT others(15): Show TTGTTTTTTTTTCTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp1 others(134): Show HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02602.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02922.hp2 HG02976.hp1 HG03017.hp2 HG03195.hp1 HG03225.hp2 HG03669.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18989.hp2 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19055.hp1 NA19059.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp1 NA19086.hp1 NA19088.hp2 NA19089.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(32): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0003t0001g0044	137	358	0.3827	22	c.718 others(39): Show c.718-1099_718-1098insGTTTTTTTTTCTTTGTTTTTGT	JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
JKAMP_chr14_59479517_59510410	59508399	T T	TACACACA others(15): Show TACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01256.hp1 HG01258.hp1 others(15): Show HG00140.hp1 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG03225.hp1 HG03471.hp1 HG03516.hp1 NA18940.hp2 NA18984.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0031 a0001c0001t0001g0119 a0001c0001t0001g0137 others(12): Show a0001c0001t0001g0031 a0001c0001t0001g0119 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0019 a0001c0001t0002g0053 a0001c0001t0002g0069 a0001c0001t0002g0074 a0001c0001t0002g0076	18	358	0.0503	22	c.43 others(33): Show c.4327_*4328insACACACACACACACACACACAC	JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding		2990		chr14	TogoVar
JMJD1C_chr10_63162225_63470977	63243103	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02922.hp1 HG03130.hp2 others(1): Show HG01071.hp2 HG02922.hp1 HG03130.hp2 NA18953.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0166 a0002c0002t0001g0226 a0002c0002t0001g0282 others(1): Show a0002c0002t0001g0166 a0002c0002t0001g0226 a0002c0002t0001g0282 a0002c0002t0001g0293	4	310	0.0129	22	c.447 others(41): Show c.447+21526_447+21547dupTATATATATATATATATATATA	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	3/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63292144	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA19078.hp2 NA18960.hp2 NA19078.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0176 a0003c0003t0001g0186 a0003c0003t0001g0176 a0003c0003t0001g0186	2	310	0.0065	22	c.334 others(41): Show c.334-27381_334-27380insAAAAAAAAAAAAAAAAAAAAAA	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63337624	A A	AAAAAGAA others(15): Show AAAAAGAAAAAGAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	310	0.0032	22	c.333 others(41): Show c.333+42693_333+42694insCTTTTCTTTTTCTTTTTCTTTT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63387629	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02559.hp2 NA18906.hp1 HG01192.hp2 HG02559.hp2 NA18906.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0119 a0005c0005t0001g0146 a0005c0005t0001g0149 a0005c0005t0001g0119 a0005c0005t0001g0146 a0005c0005t0001g0149	3	310	0.0097	22	c.169 others(39): Show c.169-7169_169-7148dupAAAAAAAAAAAAAAAAAAAAAA	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	1/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63392867	A A	AACACACA others(15): Show AACACACACACAAACACACACAC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA19068.hp2 NA18949.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0050 a0001c0001t0001g0033 a0001c0001t0001g0050	2	310	0.0065	22	c.169 others(41): Show c.169-12386_169-12385insGTGTGTGTGTTTGTGTGTGTGT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	1/25			chr10	TogoVar
JMJD6_chr17_76713451_76731606	76722917	A A	ACAAAGAC others(15): Show ACAAAGACAATAGGTAACTACTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(432): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.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.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(135): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0002g0044 a0001c0001t0003g0105 a0001c0001t0004g0140 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0003t0001g0138 a0001c0003t0001g0139 a0001c0004t0001g0058 a0001c0005t0001g0124	435	440	0.9886	22	c.805 others(37): Show c.805+854_805+855insCAGTAGTTACCTATTGTCTTTG	JMJD6	ENSG00000070495.15	transcript	ENST00000397625.9	protein_coding	3/5			chr17	TogoVar
JMJD7_chr15_41823092_41842581	41833393	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA19065.hp2 HG03704.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0131 a0001c0001t0002g0105 a0001c0001t0002g0131	2	386	0.0052	22	c.65- others(37): Show c.65-1346_65-1325dupATATATATATATATATATATAT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JOSD1_chr22_38680543_38705943	38689912	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03139.hp2 NA19012.hp1 others(1): Show HG01891.hp2 HG03139.hp2 NA19012.hp1 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0026 a0001c0002t0002 a0001c0002t0026	a0001c0002t0002g0039 a0001c0002t0002g0109 a0001c0002t0026g0181 a0001c0002t0002g0039 a0001c0002t0002g0109 a0001c0002t0026g0181	4	376	0.0106	22	c.186 others(37): Show c.186-510_186-489dupCACACACACACACACACACACA	JOSD1	ENSG00000100221.11	transcript	ENST00000683374.1	protein_coding	2/4			chr22	TogoVar
JPH1_chr8_74229700_74326540	74296019	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01515.hp1 HG01884.hp2 others(6): Show HG01070.hp1 HG01515.hp1 HG01884.hp2 HG02559.hp1 HG02647.hp2 HG02970.hp1 HG03139.hp2 HG03471.hp2 NA19240.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0015 a0001c0001 a0002c0002 a0006c0015	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0017 a0001c0001t0025 a0002c0002t0006 a0006c0015t0008	a0001c0001t0003g0172 a0001c0001t0004g0171 a0001c0001t0005g0160 others(5): Show a0001c0001t0003g0172 a0001c0001t0004g0171 a0001c0001t0005g0160 a0001c0001t0009g0033 a0001c0001t0017g0012 a0001c0001t0025g0193 a0002c0002t0006g0143 a0006c0015t0008g0040	9	330	0.0273	22	c.113 others(43): Show c.1139+18820_1139+18841dupGTGTGTGTGTGTGTGTGTGTGT	JPH1	ENSG00000104369.5	transcript	ENST00000342232.5	protein_coding	2/5			chr8	TogoVar
JPH2_chr20_44101590_44192188	44134615	A A	ATAAATAT others(15): Show ATAAATATTTATTATAAATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0045 a0002c0025t0045	a0002c0025t0045g0079 a0002c0025t0045g0079	1	338	0.0030	22	c.117 others(43): Show c.1170-15993_1170-15992insATATATTTATAATAAATATTTA	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44134721	T T	TTATTATA others(15): Show TTATTATAAATATATATACATTA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00597.hp1 others(63): Show HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01258.hp1 HG01261.hp1 HG01975.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02698.hp1 HG02735.hp1 HG02896.hp1 HG02976.hp2 HG03017.hp2 HG03209.hp2 HG03669.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 NA18522.hp1 NA18612.hp1 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18950.hp2 NA18951.hp1 NA18963.hp1 NA18969.hp2 NA18970.hp2 NA18975.hp2 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18995.hp2 NA19005.hp2 NA19010.hp2 NA19054.hp2 NA19060.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19079.hp1 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0012 others(4): Show a0001c0001 a0001c0006 a0001c0012 a0002c0002 a0002c0005 a0002c0009 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0012 a0001c0006t0011 a0001c0006t0021 a0001c0006t0032 a0001c0006t0056 a0001c0006t0088 a0001c0006t0105 a0001c0006t0106 a0001c0012t0021 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0010 a0002c0002t0015 a0002c0002t0018 a0002c0002t0020 a0002c0002t0025 a0002c0002t0027 a0002c0002t0033 a0002c0002t0042 a0002c0002t0059 a0002c0002t0067 a0002c0002t0084 a0002c0002t0085 a0002c0002t0086 a0002c0005t0004 a0002c0005t0010 a0002c0005t0025 a0002c0005t0039 a0002c0005t0100 a0002c0009t0029 a0002c0009t0074 a0002c0010t0016	a0001c0001t0001g0236 a0001c0001t0001g0286 a0001c0001t0002g0064 others(63): Show a0001c0001t0001g0236 a0001c0001t0001g0286 a0001c0001t0002g0064 a0001c0001t0003g0057 a0001c0001t0009g0114 a0001c0001t0012g0150 a0001c0001t0012g0158 a0001c0006t0011g0149 a0001c0006t0011g0160 a0001c0006t0011g0161 a0001c0006t0011g0168 a0001c0006t0011g0169 a0001c0006t0011g0170 a0001c0006t0021g0228 a0001c0006t0021g0235 a0001c0006t0032g0311 a0001c0006t0056g0097 a0001c0006t0088g0223 a0001c0006t0105g0313 a0001c0006t0106g0322 a0001c0012t0021g0218 a0002c0002t0003g0024 a0002c0002t0003g0026 a0002c0002t0003g0032 a0002c0002t0003g0067 a0002c0002t0004g0231 a0002c0002t0004g0237 a0002c0002t0006g0146 a0002c0002t0006g0155 a0002c0002t0006g0156 a0002c0002t0006g0157 a0002c0002t0006g0166 a0002c0002t0010g0031 a0002c0002t0015g0107 a0002c0002t0018g0112 a0002c0002t0020g0154 a0002c0002t0025g0045 a0002c0002t0027g0229 a0002c0002t0027g0230 a0002c0002t0027g0233 a0002c0002t0033g0305 a0002c0002t0042g0025 a0002c0002t0059g0123 a0002c0002t0067g0136 a0002c0002t0084g0193 a0002c0002t0085g0278 a0002c0002t0086g0245 a0002c0005t0004g0194 a0002c0005t0004g0211 a0002c0005t0004g0215 a0002c0005t0004g0216 a0002c0005t0004g0217 a0002c0005t0004g0219 a0002c0005t0004g0220 a0002c0005t0010g0008 a0002c0005t0010g0009 a0002c0005t0010g0014 a0002c0005t0010g0016 a0002c0005t0025g0007 a0002c0005t0025g0010 a0002c0005t0039g0003 a0002c0005t0100g0210 a0002c0009t0029g0272 a0002c0009t0029g0274 a0002c0009t0074g0173 a0002c0010t0016g0103	66	338	0.1953	22	c.117 others(43): Show c.1170-16099_1170-16098insTAATGTATATATATTTATAATA	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH3_chr16_87597508_87703156	87659374	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18945.hp1 HG03942.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0283 a0001c0001t0001g0076 a0001c0001t0001g0283	2	380	0.0053	22	c.116 others(43): Show c.1160+14351_1160+14352insAAAAAAAAAAAAAAAAAAAAAA	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JPT1_chr17_75130248_75159512	75142628	A A	AGGGAAGG others(15): Show AGGGAAGGGGAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01981.hp1 HG00741.hp2 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0118 a0001c0001t0001g0081 a0001c0001t0001g0118	2	388	0.0052	22	c.316 others(39): Show c.316+4037_316+4038insCCCTCCCCTCCCTCCCCTTCCC	JPT1	ENSG00000189159.16	transcript	ENST00000409753.8	protein_coding	4/4			chr17	TogoVar
JSRP1_chr19_2247252_2261417	2259312	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 NA20129.hp1 HG03041.hp2 NA20129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0045 a0002c0003t0001g0076 a0002c0003t0001g0045 a0002c0003t0001g0076	2	436	0.0046	22	c.-29 others(33): Show c.-2982_-2961dupTTTTTTTTTTTTTTTTTTTTTT	JSRP1	ENSG00000167476.10	transcript	ENST00000300961.10	protein_coding		2896		chr19	TogoVar
KALRN_chr3_124028369_124731325	124120709	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0107 a0001c0012t0004g0107	1	116	0.0086	22	c.73+ others(39): Show c.73+86897_73+86898insTATATATATATATATATATATA	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124286082	C C	CCTTCTTC others(15): Show CCTTCTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0005 a0001c0018t0005	a0001c0018t0005g0009 a0001c0018t0005g0009	1	116	0.0086	22	c.970 others(41): Show c.970-12706_970-12705insCTTCTTTCTTTCTTTCTTTCTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	5/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124304127	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0112 a0001c0001t0003g0112	1	116	0.0086	22	c.109 others(41): Show c.1092+5227_1092+5248dupACACACACACACACACACACAC	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	6/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124439188	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0065 a0001c0009t0001g0065	1	116	0.0086	22	c.319 others(39): Show c.3198+152_3198+153insACACACACACACACACACACAC	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	18/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124495965	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG03453.hp2 HG01168.hp1 HG03453.hp2	a0001 a0001	a0001c0012 a0001c0051 a0001c0012 a0001c0051	a0001c0012t0004 a0001c0051t0003 a0001c0012t0004 a0001c0051t0003	a0001c0012t0004g0107 a0001c0051t0003g0005 a0001c0012t0004g0107 a0001c0051t0003g0005	2	116	0.0172	22	c.483 others(39): Show c.4833-345_4833-344insGTATATATATATATATATATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	32/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124623399	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01123.hp1 HG02257.hp2 others(4): Show HG00323.hp1 HG01123.hp1 HG02257.hp2 NA18522.hp1 NA18612.hp2 NA18955.hp2 NA19004.hp2	a0001 a0001	a0001c0004 a0001c0016 a0001c0025 others(3): Show a0001c0004 a0001c0016 a0001c0025 a0001c0032 a0001c0038 a0001c0062	a0001c0004t0030 a0001c0016t0011 a0001c0016t0025 others(4): Show a0001c0004t0030 a0001c0016t0011 a0001c0016t0025 a0001c0025t0002 a0001c0032t0003 a0001c0038t0002 a0001c0062t0019	a0001c0004t0030g0052 a0001c0016t0011g0064 a0001c0016t0025g0004 others(4): Show a0001c0004t0030g0052 a0001c0016t0011g0064 a0001c0016t0025g0004 a0001c0025t0002g0027 a0001c0032t0003g0090 a0001c0038t0002g0028 a0001c0062t0019g0074	7	116	0.0603	22	c.518 others(41): Show c.5183-9013_5183-8992dupCACACACACACACACACACACA	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	34/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124642806	G G	GTTGTTTT others(15): Show GTTGTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA19002.hp1 HG00323.hp1 NA19002.hp1	a0001 a0001	a0001c0005 a0001c0016 a0001c0005 a0001c0016	a0001c0005t0001 a0001c0016t0025 a0001c0005t0001 a0001c0016t0025	a0001c0005t0001g0023 a0001c0016t0025g0004 a0001c0005t0001g0023 a0001c0016t0025g0004	2	116	0.0172	22	c.566 others(41): Show c.5664+5505_5664+5506insGTTTTTTTTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	37/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124642806	G G	GTTTTTTT others(15): Show GTTTTTTTGTTGTTGTTGTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0001 a0001c0034t0001	a0001c0034t0001g0030 a0001c0034t0001g0030	1	116	0.0086	22	c.566 others(41): Show c.5664+5510_5664+5511insGTTGTTGTTGTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	37/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124642806	G G	GTTTTTTT others(15): Show GTTTTTTTTTTGTTGTTGTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0008 a0001c0020t0008	a0001c0020t0008g0083 a0001c0020t0008g0083	1	116	0.0086	22	c.566 others(41): Show c.5664+5513_5664+5514insGTTGTTGTTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	37/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124646391	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0073 a0001c0073	a0001c0073t0006 a0001c0073t0006	a0001c0073t0006g0096 a0001c0073t0006g0096	1	116	0.0086	22	c.566 others(41): Show c.5665-4400_5665-4399insTTTTTTTTTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	37/59		INFO_REALIGN_3_PRIME	chr3	TogoVar

Search by Variant

Search

Search Results